Browsing by Subject "FERTILITY"

Sort by: Order: Results:

Now showing items 1-20 of 26
  • Katila, Terttu; Reilas, Tiina; Nivola, Kaisa; Peltonen, Terttu; Virtala, Anna-Maija (2010)
  • Pausch, Hubert; Venhoranta, Heli; Wurmser, Christine; Hakala, Kalle; Iso-Touru, Terhi; Sironen, Anu; Vingborg, Rikke K.; Lohi, Hannes; Soderquist, Lennart; Fries, Ruedi; Andersson, Magnus (2016)
    Background: Artificial insemination is widely used in many cattle breeding programs. Semen samples of breeding bulls are collected and closely examined immediately after collection at artificial insemination centers. Only ejaculates without anomalous findings are retained for artificial insemination. Although morphological aberrations of the spermatozoa are a frequent reason for discarding ejaculates, the genetic determinants underlying poor semen quality are scarcely understood. Results: A tail stump sperm defect was observed in three bulls of the Swedish Red cattle breed. The spermatozoa of affected bulls were immotile because of severely disorganized tails indicating disturbed spermatogenesis. We genotyped three affected bulls and 18 unaffected male half-sibs at 46,035 SNPs and performed homozygosity mapping to map the fertility disorder to an 8.42 Mb interval on bovine chromosome 13. The analysis of whole-genome re-sequencing data of an affected bull and 300 unaffected animals from eleven cattle breeds other than Swedish Red revealed a 1 bp deletion (Chr13: 24,301,425 bp, ss1815612719) in the eleventh exon of the armadillo repeat containing 3-encoding gene (ARMC3) that was compatible with the supposed recessive mode of inheritance. The deletion is expected to alter the reading frame and to induce premature translation termination (p.A451fs26). The mutated protein is shortened by 401 amino acids (46 %) and lacks domains that are likely essential for normal protein function. Conclusions: We report the phenotypic and genetic characterization of a sterilizing tail stump sperm defect in the Swedish Red cattle breed. Exploiting high-density genotypes and massive re-sequencing data enabled us to identify the most likely causal mutation for the fertility disorder in bovine ARMC3. Our results provide the basis for monitoring the mutated variant in the Swedish Red cattle population and for the early identification of infertile animals.
  • Reilas, Tiina; Katila, Terttu; Kosola, Mikko; Virtala, Anna-Maija (2020)
    In Finland, the seasonal foaling rates of trotters began declining at the beginning of the 2000s. This retrospective study aimed to elaborate factors behind the declining foaling rates in Finnhorses using multivariable logit models. The mating records from years 1998 to 2000 (period 1, n = 5967) and 2002 to 2004 (period 2, n = 5373) originated from the Finnish trotting and breeding association. The over-all foaling rate was 66.6% during period 1 and 62.4% during period 2 (p < 0.0001). Foaling rate for on-site artificial insemination decreased from 70.2% to 64.8% (p = 0.003). The proportion of the most fertile mare groups, 2–9-year-olds and foaled mares, decreased by 8.2 and 7.1 percentage points, respectively. Differences in foaling rates between young and middle-aged mares, and maiden and foaled mares changed from non-significant to significant (p<0.0001) due to the foaling rate decline in middle-aged (p = 0.001) and maiden mares (p = 0.01). The decline in foaling rate was also significant for barren and rested mares (p < 0.05), natural mating (p = 0.01), and book size >68 (p < 0.0001). It was concluded that multiple factors were responsible for the foaling rate decline.
  • Lindh, Lena; Lindeberg, H.; Banting, A; Banting, S.; Sainmaa, S.; Beasley, S.; Korhonen, H.; Peltoniemi, Olli (2020)
    The interest in non-surgical approaches to contraception and fertility control in female dogs has increased in recent years. In this study the effect of an aromatase inhibitor (finrozole) was evaluated in fur production animals, farmed blue fox vixens, as a model for contraception in bitches. A total of 80 vixens were divided into 4 groups, receiving orally placebo (A) or finrozole 0.5 mg/kg (B), 3.5 mg/kg (C) or 24.5 mg/kg (D) for 21 consecutive days beginning in the pre-ovulatory period of heat. Monitoring of the vixens included clinical signs of heat, measurement of vaginal electrical resistance (VER) as well as oestradiol and progesterone concentrations in plasma. The approximate relation of the start of treatment to ovulation varied from 11 days before to one day after ovulation provided that the LH peak occurred 0.5 -2 days before the VER peak and ovulation was then estimated to occur 2 days after the LH peak. Seventy vixens were artificially inseminated within 8 h after a 50 Omega decline in vaginal electrical resistance was detected. Ten vixens were not inseminated. Pregnancy was confirmed by transabdominal ultrasound examination and birth of cubs was recorded. The pregnancy rates in the groups were 89.5% (A), 81.3% (B), 55.6% (C) and 52.9% (D). The average number of live born pups in the four groups was 9.4 (A), 7.0 (B), 5.8 (C), and 3.8 (D), respectively. No deleterious effects (for instance malformations) of finrozole on pups could be verified. The administration of finrozole did not have a significant effect on oestradiol parameters and VER values in vixens. Progesterone values were significantly higher in treatment groups compared with the placebo group. The results indicate that pregnancy could be avoided by finrozole provided that doses of >= 3.5 mg/kg were used and the treatment was initiated at least four days before the day of artificial insemination. This corresponds with two to six days before ovulation provided that the LH peak occurred 0.5-2 days before the VER peak and that ovulation then occurred in average 2 days after the LH peak. (C) 2020 The Authors. Published by Elsevier Inc.
  • Rose, Richard J.; Latvala, Antti; Silventoinen, Karri; Kaprio, Jaakko (2022)
    Background Do drinking patterns in late adolescence/early adulthood predict lifetime childlessness and number of children? Research on this question has been only tangentially relevant and the results inconsistent. The designs used to date have been compromised by genetic and environmental confounds that are poorly controlled; covariate effects of smoking and education that are often ignored; males being understudied; population-based sampling rare, and long-term prospective studies with genetically informative designs yet to be reported. Method In a 33-year follow-up, we linked the drinking patterns of >3500 Finnish twin pairs, assessed at ages 18-25, to registry data on their eventual number of children. Analyses distinguished associations of early drinking patterns with lifetime childlessness from those predictive of family size. Within-twin pair analyses used fixed-effects regression models to account for shared familial confounds and genetic liabilities. Childlessness was analyzed with Cox proportional hazards models and family size with Poisson regression. Analyses within-pairs and of twins as individuals were run before and after adjustment for smoking and education, and for oral contraceptive (OC) use in individual-level analyses of female twins. Results Baseline abstinence and heavier drinking both significantly predicted lifetime childlessness in individual-level analyses. Few abstinent women used OCs, but they were nonetheless more often eventually childless; adjusting for smoking and education did not affect this finding. Excluding childless twins, Poisson models of family size showed heavier drinking at 18-25 to be predictive of fewer children in both men and women. Those associations were replicated in within-pair analyses of dizygotic twins, each level of heavier drinking being associated with smaller families. Among monozygotic twins, associations of drinking with completed family size yielded effects of similar magnitude, reaching significance at the highest levels of consumption, ruling out familial confounds. Conclusions Compared to moderate levels of drinking, both abstinence and heavier drinking in late adolescence/early adulthood predicted a greater likelihood of lifetime childlessness and eventual number of children. Familial confounds do not fully explain these associations.
  • Nováková, Eliška; Zablatzká , Lenka; Brus , Jan; Nesrstová , Viktorie; Hanáček, Pavel; Kalendar, Ruslan; Cvrčková , Fatima; Majeský , Ľuboš; Smýkal, Petr (2019)
    Reproductive isolation is an important component of species differentiation. The plastid accD gene coding for the acetyl-CoA carboxylase subunit and the nuclear bccp gene coding for the biotin carboxyl carrier protein were identified as candidate genes governing nuclear-cytoplasmic incompatibility in peas. We examined the allelic diversity in a set of 195 geographically diverse samples of both cultivated (Pisum sativum, P. abyssinicum) and wild (P. fulvum and P. elatius) peas. Based on deduced protein sequences, we identified 34 accD and 31 bccp alleles that are partially geographically and genetically structured. The accD is highly variable due to insertions of tandem repeats. P. fulvum and P. abyssinicum have unique alleles and combinations of both genes. On the other hand, partial overlap was observed between P. sativum and P. elatius. Mapping of protein sequence polymorphisms to 3D structures revealed that most of the repeat and indel polymorphisms map to sequence regions that could not be modeled, consistent with this part of the protein being less constrained by requirements for precise folding than the enzymatically active domains. The results of this study are important not only from an evolutionary point of view but are also relevant for pea breeding when using more distant wild relatives.
  • Sironen, Anu; Uimari, Pekka; Venhoranta, Heli; Andersson, Magnus; Vilkki, Johanna (2011)
    ABSTRACT: BACKGROUND: Male infertility is an increasing problem in all domestic species including man. Localization and identification of genes involved in defects causing male infertility provide valuable information of specific events in sperm development. Sperm development is a complex process, where diploid spermatogonia develop into haploid, highly specialized spermatozoa. Correct expression and function of various genes and their protein products are required for production of fertile sperm. We have identified an infertility defect in Finnish Yorkshire boars caused by spermatogenic arrest. The aim of this study was to locate the disease associated region using genome wide screen with the PorcineSNP60 Beadchip and identify the causal mutation by candidate gene approach. RESULTS: In the Finnish Yorkshire pig population the spermatogenic arrest (SA) defect appears to be of genetic origin and causes severe degeneration of germ cells and total absence of spermatozoa. Genome wide scan with the PorcineSNP60 Beadchip localized the SA defect to porcine chromosome 12 in a 2 Mbp region. Sequencing of a candidate gene Tex14 revealed a 51 bp insertion within exon 27, which caused differential splicing of the exon and created a premature translation stop codon. The expression of Tex14 was markedly down regulated in the testis of a SA affected boar compared to control boars and no protein product was identified by Western blotting. The SA insertion sequence was also found within intron 27 in all analyzed animals, thus the insertion appears to be a possible duplication event. CONCLUSION: In this study we report the identification of a causal mutation for infertility caused by spermatogenic arrest at an early meiotic phase. Our results highlight the role of TEX14 specifically in spermatogenesis and the importance of specific genomic remodeling events as causes for inherited defects.
  • Kareskoski, Maria; Venhoranta, Heli; Virtala, Anna-Maija; Katila, Terttu (2019)
    Artificial insemination (AI) with cooled stallion semen has increased markedly during the last decades in all countries, but fertility is often lower than when fresh semen or natural mating is used. The objective of this study was to examine field data (1634,cycles 523 Standardbred (SB) mares, 575 Finnhorse (FH) mares, and 90 stallions) using multivariable logistic regression for factors influencing the pregnancy rate (PR) after Al with cooled transported semen from SB and FH stallions. The PR per cycle for the material was 47%: Finnhorses 42% and Standardbreds 53%. When assessed with multivariable logistic regression analyses with a generalized linear mixed model, variables that affected the PR were breed, the number of inseminated estrus cycles, the percentage of progressively motile sperm (PMOT) in the ejaculate/AI dose at the time of shipment, and the number of progressively motile sperm in the Al dose at the time of insemination. In Standardbreds, variables that increased the per cycle PR were the number of Al per estrus cycle (multiple inseminations increasing the probability of pregnancy compared to only one insemination), the number of inseminated cycles, and PMOT in the AI dose at the time of insemination. In Finnhorses, the number of Al per estrus cycle (two and three inseminations increasing the probability of pregnancy compared to only one), the number of spermatozoa in the ejaculate and in the Al dose, and PMOT in the ejaculate/AI dose at the time of shipment increased the per cycle PR. Non-significant factors for the whole material included the type of artificial vagina (open-ended or closed), transport time, place of Al (stud farm or home stable), insemination done by veterinarian or technician, weekday, month, age of the mare (all age classes combined), age of the stallion, ejaculate parameters (sperm concentration, total number of sperm), and insemination dose parameters (volume proportion of seminal plasma, sperm concentration, PMOT, total number of sperm). In conclusion, breed, breeding opportunity in more than one cycle, more than one insemination/estrus, PMOT of the ejaculate/AI dose and the number of progressively motile sperm in the Al dose at the time of insemination are important for the outcome of inseminations with cooled semen. (C) 2018 Elsevier Inc. All rights reserved.
  • Toffol, Elena; But, Anna; Heikinheimo, Oskari; Latvala, Antti; Partonen, Timo; Haukka, Jari (2020)
    Objectives Sociodemographic and mental health characteristics are associated with contraceptive choices. We aimed to describe the sociodemographic, reproductive and mental health characteristics of all fertile-aged women in Finland who used hormonal contraception (HC) in 2017. Design A nationwide, register-based study. Setting All women living in Finland in 2017; data from the Care Register of Health Care, Medical Birth Register, Population Register Centre, Prescription Centre, Register of Induced Abortions. Participants All women aged 15-49 with one redeemed HC prescription in 2017 (n=294 356), and a same-sized, age-matched and residence-matched, control group of non-users. Outcomes Rates of HC use; associations between HC use and mental disorders, sociodemographic and reproductive characteristics. Results 25.8% of women aged 15-49 years used HC. Women with the lowest socioeconomic levels had lower odds of using HC than women with upper-level statuses (OR, 95% CI students: 0.97, 0.94 to 0.99; entitled to pension: 0.66, 0.63 to 0.69; other: 0.87, 0.85 to 0.89; unknown: 0.90, 0.85 to 0.90). Women with the highest education (secondary: 1.46, 1.43 to 1.48; tertiary: 1.64, 1.58 to 1.70; academic: 1.60, 1.56 to 1.63) and income (second quarter: 1.57, 1.54 to 1.60; third quarter: 1.85, 1.82 to 1.89; fourth quarter: 2.01, 1.97 to 2.06), and unmarried women had higher odds of using HC than women with the lowest education and income levels, and married (0.61, 0.60 to 0.62), divorced (0.86, 0.84 to 0.88), widowed (0.73, 0.65 to 0.83) or other marital status women (0.26, 0.22 to 0.30). Parous women (0.70, 0.69 to 0.71), those with previous induced abortion(s) (0.91, 0.89 to 0.92) or recent eating (0.68, 0.62 to 0.75) or personality (0.89, 0.79 to 0.97) disorders had lower odds of HC use. Absolute risk differences between women with and without mental disorders ranged from 3.1% (anxiety disorders) to 10.1% (eating disorders). Conclusions A quarter of the fertile-aged women use HC in Finland. Sociodemographic disparities persist in relation to HC use, although of small effect size. HC use is less common among women suffering from severe to moderate psychiatric disorders, especially eating disorders.
  • Clark, David W.; Okada, Yukinori; Moore, Kristjan H. S.; Mason, Dan; Pirastu, Nicola; Gandin, Ilaria; Mattsson, Hannele; Barnes, Catriona L. K.; Lin, Kuang; Zhao, Jing Hua; Deelen, Patrick; Rohde, Rebecca; Schurmann, Claudia; Guo, Xiuqing; Giulianini, Franco; Zhang, Weihua; Medina-Gomez, Carolina; Karlsson, Robert; Bao, Yanchun; Bartz, Traci M.; Baumbach, Clemens; Biino, Ginevra; Bixley, Matthew J.; Brumat, Marco; Chai, Jin-Fang; Corre, Tanguy; Cousminer, Diana L.; Dekker, Annelot M.; Eccles, David A.; Van Eijk, Kristel R.; Fuchsberger, Christian; Gao, He; Germain, Marine; Gordon, Scott D.; de Haan, Hugoline G.; Harris, Sarah E.; Hofer, Edith; Huerta-Chagoya, Alicia; Igartua, Catherine; Jansen, Iris E.; Jia, Yucheng; Kacprowski, Tim; Karlsson, Torgny; Kleber, Marcus E.; Li, Shengchao Alfred; Li-Gao, Ruifang; Mahajan, Anubha; Matsuda, Koichi; Meidtner, Karina; Meng, Weihua; Montasser, May E.; van der Most, Peter J.; Munz, Matthias; Nutile, Teresa; Palviainen, Teemu; Prasad, Gauri; Prasad, Rashmi B.; Priyanka, Tallapragada Divya Sri; Rizzi, Federica; Salvi, Erika; Sapkota, Bishwa R.; Shriner, Daniel; Skotte, Line; Smart, Melissa C.; Smith, Albert Vernon; van der Spek, Ashley; Spracklen, Cassandra N.; Strawbridge, Rona J.; Tajuddin, Salman M.; Trompet, Stella; Turman, Constance; Verweij, Niek; Viberti, Clara; Wang, Lihua; Warren, Helen R.; Wootton, Robyn E.; Yanek, Lisa R.; Yao, Jie; Yousri, Noha A.; Zhao, Wei; Adeyemo, Adebowale A.; Afaq, Saima; Alberto Aguilar-Salinas, Carlos; Akiyama, Masato; Albert, Matthew L.; Allison, Matthew A.; Alver, Maris; Aung, Tin; Azizi, Fereidoun; Bentley, Amy R.; Boeing, Heiner; Boerwinkle, Eric; Borja, Judith B.; de Borst, Gert J.; Bottinger, Erwin P.; Broer, Linda; Campbell, Harry; Chanock, Stephen; Chee, Miao-Li; Chen, Guanjie; Chen, Yii-Der I.; Chen, Zhengming; Chiu, Yen-Feng; Cocca, Massimiliano; Collins, Francis S.; Concas, Maria Pina; Corley, Janie; Cugliari, Giovanni; Van Dam, Rob M.; Damulina, Anna; Daneshpour, Maryam S.; Day, Felix R.; Delgado, Graciela E.; Dhana, Klodian; Doney, Alexander S. F.; Doerr, Marcus; Doumatey, Ayo P.; Dzimiri, Nduna; Ebenesersdottir, S. Sunna; Elliott, Joshua; Elliott, Paul; Ewert, Ralf; Felix, Janine F.; Fischer, Krista; Freedman, Barry I.; Girotto, Giorgia; Goel, Anuj; Gogele, Martin; Goodarzi, Mark O.; Graff, Mariaelisa; Granot-Hershkovitz, Einat; Grodstein, Francine; Guarrera, Simonetta; Gudbjartsson, Daniel F.; Guity, Kamran; Gunnarsson, Bjarni; Guo, Yu; Hagenaars, Saskia P.; Haiman, Christopher A.; Halevy, Avner; Harris, Tamara B.; Hedayati, Mehdi; van Heel, David A.; Hirata, Makoto; Hofer, Imo; Hsiung, Chao Agnes; Huang, Jinyan; Hung, Yi-Jen; Ikram, M. Arfan; Jagadeesan, Anuradha; Jousilahti, Pekka; Kamatani, Yoichiro; Kanai, Masahiro; Kerrison, Nicola D.; Kessler, Thorsten; Khaw, Kay-Tee; Khor, Chiea Chuen; de Kleijn, Dominique P. V.; Koh, Woon-Puay; Kolcic, Ivana; Kraft, Peter; Kramer, Bernhard K.; Kutalik, Zoltan; Kuusisto, Johanna; Langenberg, Claudia; Launer, Lenore J.; Lawlor, Deborah A.; Lee, I-Te; Lee, Wen-Jane; Lerch, Markus M.; Li, Liming; Liu, Jianjun; Loh, Marie; London, Stephanie J.; Loomis, Stephanie; Lu, Yingchang; Luan, Jian'an; Magi, Reedik; Manichaikul, Ani W.; Manunta, Paolo; Masson, Gisli; Matoba, Nana; Mei, Xue W.; Meisinger, Christa; Meitinger, Thomas; Mezzavilla, Massimo; Milani, Lili; Millwood, Iona Y.; Momozawa, Yukihide; Moore, Amy; Morange, Pierre-Emmanuel; Moreno-Macias, Hortensia; Mori, Trevor A.; Morrison, Alanna C.; Muka, Taulant; Murakami, Yoshinori; Murray, Alison D.; de Mutsert, Renee; Mychaleckyj, Josyf C.; Nalls, Mike A.; Nauck, Matthias; Neville, Matt J.; Nolte, Ilja M.; Ong, Ken K.; Orozco, Lorena; Padmanabhan, Sandosh; Palsson, Gunnar; Pankow, James S.; Pattaro, Cristian; Pattie, Alison; Polasek, Ozren; Poulter, Neil; Pramstaller, Peter P.; Quintana-Murci, Lluis; Räikkönen, Katri; Ralhan, Sarju; Rao, Dabeeru C.; van Rheenen, Wouter; Rich, Stephen S.; Ridker, Paul M.; Rietveld, Cornelius A.; Robino, Antonietta; van Rooij, Frank J. A.; Ruggiero, Daniela; Saba, Yasaman; Sabanayagam, Charumathi; Sabater-Lleal, Maria; Felicita Sala, Cinzia; Salomaa, Veikko; Sandow, Kevin; Schmidt, Helena; Scott, Laura J.; Scott, William R.; Sedaghati-Khayat, Bahareh; Sennblad, Bengt; van Setten, Jessica; Sever, Peter J.; Sheu, Wayne H-H; Shi, Yuan; Shrestha, Smeeta; Shukla, Sharvari Rahul; Sigurdsson, Jon K.; Sikka, Timo Tonis; Singh, Jai Rup; Smith, Blair H.; Stancakova, Alena; Stanton, Alice; Starr, John M.; Stefansdottir, Lilja; Straker, Leon; Sulem, Patrick; Sveinbjornsson, Gardar; Swertz, Morris A.; Taylor, Adele M.; Taylor, Kent D.; Terzikhan, Natalie; Tham, Yih-Chung; Thorleifsson, Gudmar; Thorsteinsdottir, Unnur; Tillander, Annika; Tracy, Russell P.; Tusie-Luna, Teresa; Tzoulaki, Ioanna; Vaccargiu, Simona; Vangipurapu, Jagadish; Veldink, Jan H.; Vitart, Veronique; Volker, Uwe; Vuoksimaa, Eero; Wakil, Salma M.; Waldenberger, Melanie; Wander, Gurpreet S.; Wang, Ya Xing; Wareham, Nicholas J.; Wild, Sarah; Yajnik, Chittaranjan S.; Yuan, Jian-Min; Zeng, Lingyao; Zhang, Liang; Zhou, Jie; Amin, Najaf; Asselbergs, Folkert W.; Bakker, Stephan J. L.; Becker, Diane M.; Lehne, Benjamin; Bennett, David A.; van den Berg, Leonard H.; Berndt, Sonja I.; Bharadwaj, Dwaipayan; Bielak, Lawrence F.; Bochud, Murielle; Boehnke, Mike; Bouchard, Claude; Bradfield, Jonathan P.; Brody, Jennifer A.; Campbell, Archie; Carmi, Shai; Caulfield, Mark J.; Cesarini, David; Chambers, John C.; Chandak, Giriraj Ratan; Cheng, Ching-Yu; Ciullo, Marina; Cornelis, Marilyn; Cusi, Daniele; Smith, George Davey; Deary, Ian J.; Dorajoo, Rajkumar; van Duijn, Cornelia M.; Ellinghaus, David; Erdmann, Jeanette; Eriksson, Johan G.; Evangelou, Evangelos; Evans, Michele K.; Faul, Jessica D.; Feenstra, Bjarke; Feitosa, Mary; Foisy, Sylvain; Franke, Andre; Friedlander, Yechiel; Gasparini, Paolo; Gieger, Christian; Gonzalez, Clicerio; Goyette, Philippe; Grant, Struan F. A.; Griffiths, Lyn R.; Groop, Leif; Gudnason, Vilmundur; Gyllensten, Ulf; Hakonarson, Hakon; Hamsten, Anders; van der Harst, Pim; Heng, Chew-Kiat; Hicks, Andrew A.; Hochner, Hagit; Huikuri, Heikki; Hunt, Steven C.; Jaddoe, Vincent W. V.; De Jager, Philip L.; Johannesson, Magnus; Johansson, Asa; Jonas, Jost B.; Jukema, J. Wouter; Junttila, Juhani; Kaprio, Jaakko; Kardia, Sharon L. R.; Karpe, Fredrik; Kumari, Meena; Laakso, Markku; van der Laan, Sander W.; Lahti, Jari; Laudes, Matthias; Lea, Rodney A.; Lieb, Wolfgang; Lumley, Thomas; Martin, Nicholas G.; Marz, Winfried; Matullo, Giuseppe; McCarthy, Mark I.; Medland, Sarah E.; Merriman, Tony R.; Metspalu, Andres; Meyer, Brian F.; Mohlke, Karen L.; Montgomery, Grant W.; Mook-Kanamori, Dennis; Munroe, Patricia B.; North, Kari E.; Nyholt, Dale R.; O'connell, Jeffery R.; Ober, Carole; Oldehinkel, Albertine J.; Palmas, Walter; Palmer, Colin; Pasterkamp, Gerard G.; Patin, Etienne; Pennell, Craig E.; Perusse, Louis; Peyser, Patricia A.; Pirastu, Mario; Polderman, Tinca J. C.; Porteous, David J.; Posthuma, Danielle; Psaty, Bruce M.; Rioux, John D.; Rivadeneira, Fernando; Rotimi, Charles; Rotter, Jerome I.; Rudan, Igor; Den Ruijter, Hester M.; Sanghera, Dharambir K.; Sattar, Naveed; Schmidt, Reinhold; Schulze, Matthias B.; Schunkert, Heribert; Scott, Robert A.; Shuldiner, Alan R.; Sim, Xueling; Small, Neil; Smith, Jennifer A.; Sotoodehnia, Nona; Tai, E-Shyong; Teumer, Alexander; Timpson, Nicholas J.; Toniolo, Daniela; Tregouet, David-Alexandre; Tuomi, Tiinamaija; Vollenweider, Peter; Wang, Carol A.; Weir, David R.; Whitfield, John B.; Wijmenga, Cisca; Wong, Tien-Yin; Wright, John; Yang, Jingyun; Yu, Lei; Zemel, Babette S.; Zonderman, Alan B.; Perola, Markus; Magnusson, Patrik K. E.; Uitterlinden, Andre G.; Kooner, Jaspal S.; Chasman, Daniel I.; Loos, Ruth J. F.; Franceschini, Nora; Franke, Lude; Haley, Chris S.; Hayward, Caroline; Walters, Robin G.; Perry, John R. B.; Esko, Tonu; Helgason, Agnar; Stefansson, Kari; Joshi, Peter K.; Kubo, Michiaki; Wilson, James F. (2019)
    In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (F-ROH) for >1.4 million individuals, we show that F-ROH is significantly associated (p <0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: F-ROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44-66%] in the odds of having children. Finally, the effects of F-ROH are confirmed within full-sibling pairs, where the variation in F-ROH is independent of all environmental confounding.
  • Ala-Kurikka, Eve; Heinonen, Mari; Mustonen, Katja; Peltoniemi, Olli; Raekallio, Marja; Vainio, Outi; Valros, Anna (2017)
    Lameness is a common health and welfare problem in sows. Little has been published about behavioral changes in lame sows. Ketoprofen is an effective non-steroidal anti-inflammatory drug used to treat non-infectious locomotor disorders in pigs. The aim of this study was to determine the effect of lameness and lameness-related pain on the behavior of sows. To evaluate this effect, we studied whether pain alleviation with ketoprofen and clinical relief of lameness were associated with changes in behavior. We allocated randomly 13 lame, early pregnancy sows in three treatment groups receiving either ketoprofen 4 mg/kg, ketoprofen 2 mg/kg (these two groups were pooled for statistical analyses) or placebo. The animals were treated orally for 5 days and lameness scored before and on the last day of the treatment. Lameness was assessed with a 5-grade scoring system and behavior by scan sampling method. A clinically healthy, non-lame control sow was paired with each lame sow and they were examined the same way as lame sows but received no treatment. Lame sows were more passive, they lay more and stood and explored pen fixtures less than the control sows before treatment. After 5-days treatment, placebo-treated sows were in contact with the wall and lying more often when compared to control sows. Ketoprofen-treated sows were more seldom in contact with the wall and exploring bedding more often than placebo-treated sows. Placebo sows tended also to move and explore bedding less than control sows. Lameness had been relieved in altogether 7 out of 13 sows on day 5: six out of nine ketoprofen-medicated sows and one out of four placebo-treated sows. The behaviour of sows with relieved lameness did not differ from that of control sows on day 5. Sows with non-relieved lameness were in contact with the wall and lying more and moving and standing less than control sows. When compared to control sows, sows with non-relieved lameness tended to be more passive. When compared to sows with relieved lameness, sows with non-relieved lameness showed a tendency to be in contact with the wall more often. Our study showed that lameness reduces the activity of sows and affects their position in the pen. Passive behavior seemed at least partly be due to pain and lameness relief was associated with normalization of the behavior.
  • Oliviero, Claudio; Lindh, Lena; Peltoniemi, Olli (2019)
    The feral pig populations of many countries continue to increase. Scientific studies on population size are scarce, while the numbers of reported observations on presence of and damage caused by feral pigs are increasing. Feral pigs can carry and spread several diseases (including zoonotic), but African Swine Fever (ASF) is of most concern. It is a highly transmissible viral disease associated with an extremely high mortality rate. Since 2009 ASF has appeared in several European countries, with cases being identified first among local feral pigs and consequently in domestic pig production units, indicating a clear linkage with the movement of the feral pig population and the spread of the disease across national boundaries. Control of feral pig populations is currently under discussion. Because massive culling raises questions of animal welfare and ethics, fertility control could represent an important and effective means to control feral pig populations. Contraceptive vaccines have been used with some degree of success in many wild species because they are able to provide a long-term effect without any consequent health problems. However, extensive and efficacious use of vaccines to control feral pig populations is not simple. The aim of this article was to review the progress in immunocontraception use in feral pigs, providing an account of the current status and future perspectives.
  • Lynch, Robert; Lummaa, Virpi; Briga, Michael; Chapman, Simon; Loehr, John (2020)
    Understanding how conditions experienced during development affect reproductive timing is of considerable cross-disciplinary interest. Life-history theory predicts that organisms will accelerate reproduction when future survival is unsure. In humans, this can be triggered by early exposure to mortality. Previous studies, however, have been inconclusive due to several confounds that are also likely to affect reproduction. Here we take advantage of a natural experiment in which a population is temporarily divided by war to analyze how exposure to mortality affects reproduction. Using records of Finnish women in World War II, we find that young girls serving in a paramilitary organization wait less time to reproduce, have shorter inter-birth intervals, and have more children than their non-serving peers or sisters. These results support the hypothesis that exposure to elevated mortality rates during development can result in accelerated reproductive schedules and adds to our understanding of how participation in warfare affects women.
  • Kalamo, Mari; Mäenpää, Johanna; Seppälä, Toni; Mecklin, Jukka-Pekka; Pylvänäinen, Kirsi; Staff, Synnöve (2021)
    Background Due to increased risk of endometrial and ovarian cancer, women belonging to known Lynch Syndrome (LS) families are recommended to undergo germline testing. Current practice in Finland is to offer counselling to women with pathogenic variant and advocate risk-reducing surgery (RRS) after completion of childbirth. The present study aimed to clarify the impacts of positive germline testing on family planning and reproductive decisions of these women, which are relatively unknown. Methods Seventy-nine carriers of germline MMR gene pathogenic variant (path_MMR) were identified from the Finnish LS Registry as having genetic testing performed before the age of 45 years and not having undergone hysterectomy or oophorectomy. These women were sent a questionnaire concerning family planning, intimate relationships and psychosocial wellbeing. Results Thirty-five women (44.3%) responded. Parity of path_MMR carriers (2.1) was slightly higher than parity among Finnish women in general (1.8). No significant differences were found between parity, number of induced abortions or sterilizations before and after genetic testing. Only minority of subjects reported any influence on family planning (20%) or negative impact on feminine self and body image (14%). Conclusions The positive germline testing does not seem to have a major negative impact on family planning, intimate relationships or feminine self and body image. According to the open comments, counselling, supportive and empathic attitude of the professionals seem to have a significant impact on this. These results are a valuable addition to the counselling of LS women at reproductive age.
  • Hognert, Helena; Skjeldestad, Finn Egil; Gemzell-Danielsson, Kristina; Heikinheimo, Oskari; Milsom, Ian; Lidegaard, Ojvind; Lindh, Ingela (2018)
    Objectives Compare hormonal contraceptive use, birth and abortion rates among teenagers in the Nordic countries. A secondary aim was to explore plausible explanations for possible differences between countries. Design Ecological study using national registry data concerning births and abortions among all women aged 15-19 years residing in Denmark, Finland, Iceland, Norway and Sweden 2008-2015. Age-specific data on prescriptions for hormonal contraceptives for the period 2008-2015 were obtained from national databases in Denmark, Norway and Sweden. Setting Denmark, Finland, Iceland, Norway and Sweden. Participants Women 15-19 years old in all Nordic countries (749 709) and 13-19 years old in Denmark, Norway and Sweden (815 044). Results Both annual birth rates and abortion rates fell in all the Nordic countries during the study period. The highest user rate of hormonal contraceptives among 15-19-year-olds was observed in Denmark (from 51% to 47%) followed by Sweden (from 39% to 42%) and Norway (from 37% to 41%). Combined oral contraceptives were the most commonly used methods in all countries. The use of long-acting reversible contraceptives (LARC), implants and the levonorgestrel-releasing intrauterine systems, were increasing, especially in Sweden and Norway. In the subgroup of 18-19-year-old teenagers, the user rates of hormonal contraceptives varied between 63% and 61% in Denmark, 56% and 61% in Norway and 54% and 56% in Sweden. In the same subgroup, the steepest increase of LARC was seen, from 2% to 6% in Denmark, 2% to 9% in Norway and 7% to 17% in Sweden. Conclusions Birth and abortion rates continuously declined in the Nordic countries among teenagers. There was a high user rate of hormonal contraceptives, with an increase in the use of LARC especially among the oldest teenagers.
  • Kokkonen, Tuomo Juhani; Salin, Siru; Jaakkola, Seija Liisa; Taponen, Juhani Olavi; Elo, Kari Tapani; Vanhatalo, Aila Orvokki (2018)
    The aim was to study if overconsumption of grass silage during the far-off dry period (FODP) and decreasing feed allowance in close-up dry period (CUDP) affect body condition score (BCS) and body weight (BW) changes, as well as lactation performance and body tissue mobilization after calving in dairy cows. Control diet (CON) was fed to meet the metabolizable energy (ME) requirements, the test diet (HEI) averaged 144% and 119% of ME requirements in the FODP and CUDP, respectively. All cows were fed concentrates in the CUDP (30% of ME d(-1)). Plasma non-esterified fatty acids (NEFA) were lower and insulin tended to be higher in HEI vs. CON prepartum. No dietary effects in accretion or mobilization of body reserves were observed, and accordingly no differences in silage DMI, ME balance and plasma parameters postpartum were detected. Concentrate DMI and milk yield tended to be lower in HEI vs. CON during early lactation.
  • Berg, Venla; Lummaa, Virpi; Rickard, Ian J.; Silventoinen, Karri; Kaprio, Jaakko; Jokela, Markus (2016)
    Personality has been associated with reproductive success in humans and other animals, suggesting potential evolutionary selection pressures. However, studies to date have only examined these associations on a phenotypic level, which may be inadequate in estimating evolutionary change. Using a large longitudinal twin dataset of contemporary Finns, we compared the phenotypic (breeder's equation) and genetically informed (the Robertson-Price identity) associations between lifetime reproductive success (LRS) and two personality traits-neuroticism and extraversion. Neuroticism was not associated with LRS at the phenotypic nor genetic level, while extraversion was associated with higher LRS in men both phenotypically and genetically. Compared to the univariate phenotypic analysis, the genetic analysis suggested a larger selection response of extraversion, and a selection response of neuroticism due to indirect selection. We estimated that neuroticism decreases by .05 standard deviations and extraversion increases by .11 standard deviations by one generation. Our results highlight the importance of considering genetic associations between personality and fitness and investigating several inter-related personality traits and their covariance with each other to predict responses to selection more accurately.
  • Utriainen, Pauliina; Suominen, Anu; Mäkitie, Outi; Jahnukainen, Kirsi (2019)
    Background: Neuroblastoma is the most common extra-cranial solid tumor in children. Intensive therapy including autologous stem-cell transplantation (HSCT) has improved the poor prognosis of high-risk neuroblastoma (HR-NBL) but may impair gonadal function. Objectives: To investigate the gonadal function and fertility in long-term survivors of childhood HR-NBL. Design: A cohort including all Finnish (n = 20; 11 females) long-term (> 10 years) survivors of HR-NBL and an age-and sex-matched control group (n = 20) was examined at a median age of 22 (16-30) years. Oncologic treatments, pubertal timing, hormonal therapies and the number of off-spring were recorded, and pituitary and gonadal hormones were measured. Results: Altogether 16/20 of the long-term survivors of HR-NBL entered puberty spontaneously; puberty was hormonally induced in four survivors (three females). Among the 8/11 female survivors with spontaneous puberty, seven had spontaneous menarche, but 5/8 developed ovarian failure soon after puberty. Nine females currently needed estrogen substitution. AMH, a marker of ovarian reserve, was lower in the female survivors than controls (median 0.02 vs. 1.7 mu g/l, p <0.001). As a group, male survivors had smaller testicular size (8.5 vs. 39ml, p <0.001) and lower inhibin B ( Conclusion: Gonadal failure is common in long-term survivors of HR-NBL treated with HSCT. Fertility may be preserved in some survivors treated without total-body irradiation.
  • Silventoinen, Karri; Helle, Samuli; Nisen, Jessica; Martikainen, Pekka; Kaprio, Jaakko (2013)
  • Torres, Andres F. Castro; Batyra, Ewa; Myrskylä, Mikko (2022)
    The relationship between levels of social and economic inequality and demographic changes remains poorly documented, particularly for fertility. Covering a period from 1986 to 2018, this paper documents a positive country-level association between income inequality and the dispersion of first birth schedules among women from 88 countries of the Global South. This association is driven by a dual dynamic of the decreasing mean age at first birth among a shrinking group of women who transition to motherhood early, and the increasing mean age at first birth and rising heterogeneity in the timing of childbearing among a group of first birth delayers. We show that this association is strongest in countries where the total fertility rate is below 2.5 children per woman. We argue that differential opportunities for accessing quality education, formal labor markets, and migration are potential drivers of the rising heterogeneity in the ages at which women transition to childbearing. These results highlight the importance of examining societal and demographic processes jointly and clearly indicate that more and better-quality data on social and economic inequality are needed.