Browsing by Subject "metabolic syndrome"

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  • Miettola, Juhani; Viljanen, Anna Maria (2014)
    Objective. To find a salutogenic approach for prevention of metabolic syndrome in primary care practice. Design. An explanatory sequential mixed-methods procedure was used to fi nd salutogenic approaches for lifestyle change by assessing individual need, potential, and personal motivation. Data from a population health survey and interviews that focused on a sense of coherence were analysed. Subjects. Altogether 480 Finnish subjects participated in a population health survey, and 43 of them were interviewed. The 43 interviewees' data were included in the fi nal analysis. Main outcome measures. With the health survey participants' liability for MetS was assessed, and the objective need for lifestyle intervention was determined. Through the focused interviews potential and personal motivation for lifestyle modifi cation were explored. Finally the data of the 43 interviewed subjects were merged. Results. Four possible lifestyle intervention approaches were identifi ed for specifi c intervention. First, subjects with a strong sense of coherence only need encouragement to maintain a healthy lifestyle; second, professional support was found important for subjects with gaps in health awareness to improve health understanding; third, strengthening of social support for lifestyle change is necessary for subjects with various practical constraints in their everyday life; and fourth, strengthening of stress adaptation is important for subjects with redundant concerns about their health. Conclusions. Salutogenic client-centred lifestyle modifi cation approaches should be part of primary care practice. Further, a cross-disciplinary approach is needed in primary care research and practice to combat the exploding lifestyle illnesses.
  • Liimatta, Jani; Utriainen, Pauliina; Laitinen, Tomi; Voutilainen, Raimo; Jääskeläinen, Jarmo (2019)
    Context: Premature adrenarche (PA) is associated with childhood overweight and hyperinsulinemia; the long-term cardiometabolic outcome is unknown. Objective: To study cardiometabolic profile in adult women with previous PA. Design and participants: Thirty women with PA and 41 control subjects were followed from prepuberty to young adulthood. Main outcome measures: Prevalence of the metabolic syndrome (MetS) and clinical and biochemical cardiovascular risk factors. Results: There were no differences in the prevalence of MetS or in any parameters indicating dyslipidemia, hypertension, hepatosteatosis, atherosclerosis, or low-grade inflammation between the study groups. However, prevalence of insulin resistance (IR; P = 0.014) and acanthosis nigricans (P = 0.010) was higher in the PA group. Neither fasting glucose nor insulin concentrations differed between the study groups, but HbA1c [adjusted for body mass index (BMI) P = 0.011] and Homeostatic Model Assessment of Insulin Resistance (P = 0.044; BMI-adjusted P = nonsignificant) were higher in the PA group. Although BMI and fat percentage were comparable between the study groups, the PA group had higher central fat mass than the control group. In the whole study population, MetS and IR were associated with greater adult fat mass, but no prepubertal factors predicting later IR were found. Conclusion: PA does not seem to be associated with MetS, dyslipidemia, hypertension, atherosclerosis, or low-grade inflammation in young adult women. However, some women with PA may be at an increased risk of unfavorable glucose metabolism, which is associated with increased central adiposity at adult age rather than determined by prepubertal factors. Copyright (C) 2019 Endocrine Society
  • Taskinen, Marja-Riitta; Packard, Chris J.; Boren, Jan (2019)
    Consumption of fructose, the sweetest of all naturally occurring carbohydrates, has increased dramatically in the last 40 years and is today commonly used commercially in soft drinks, juice, and baked goods. These products comprise a large proportion of the modern diet, in particular in children, adolescents, and young adults. A large body of evidence associate consumption of fructose and other sugar-sweetened beverages with insulin resistance, intrahepatic lipid accumulation, and hypertriglyceridemia. In the long term, these risk factors may contribute to the development of type 2 diabetes and cardiovascular diseases. Fructose is absorbed in the small intestine and metabolized in the liver where it stimulates fructolysis, glycolysis, lipogenesis, and glucose production. This may result in hypertriglyceridemia and fatty liver. Therefore, understanding the mechanisms underlying intestinal and hepatic fructose metabolism is important. Here we review recent evidence linking excessive fructose consumption to health risk markers and development of components of the Metabolic Syndrome.
  • Abu-Farha, Mohamed; Tuomilehto, Jaakko; Abubaker, Jehad (2021)
  • Määttä, Anne; Salminen, Aino; Pietiäinen, Milla; Leskelä, Jaakko; Palviainen, Teemu; Sattler, Wolfgang; Sinisalo, Juha; Salomaa, Veikko; Kaprio, Jaakko; Pussinen, Pirkko (2021)
    Our aim was to analyze whether endotoxemia, i.e. translocation of LPS to circulation, is reflected in the serum metabolic profile in a general population and in participants with cardiometabolic disorders. We investigated three Finnish cohorts separately and in a meta-analysis (n = 7178), namely population-based FINRISK97, FinnTwin16 consisting of young adult twins, and Parogene, a random cohort of cardiac patients. Endotoxemia was determined as serum LPS activity and metabolome by an NMR platform. Potential effects of body mass index (BMI), smoking, metabolic syndrome (MetS), and coronary heart disease (CHD) status were considered. Endotoxemia was directly associated with concentrations of VLDL, IDL, LDL, and small HDL lipoproteins, VLDL particle diameter, total fatty acids (FA), glycoprotein acetyls (GlycA), aromatic and branched-chain amino acids, and Glc, and inversely associated with concentration of large HDL, diameters of LDL and HDL, as well as unsaturation degree of FAs. Some of these disadvantageous associations were significantly stronger in smokers and subjects with high BMI, but did not differ between participants with different CHD status. In participants with MetS, however, the associations of endotoxemia with FA parameters and GlycA were particularly strong. The metabolic profile in endotoxemia appears highly adverse, involving several inflammatory characters and risk factors for cardiometabolic disorders.
  • Liira, Helena; Engberg, Elina; Leppavuori, Jenni; From, Svetlana; Kautiainen, Hannu; Liira, Juha; Remes-Lyly, Taina; Tikkanen, Heikki; Pitkala, Kaisu (2014)
  • Cuthbertson, Daniel J.; Koskinen, Juha; Brown, Emily; Magnussen, Costan G.; Hutri-Kahonen, Nina; Sabin, Matthew; Tossavainen, Paivi; Jokinen, Eero; Laitinen, Tomi; Viikari, Jorma; Raitakari, Olli T.; Juonala, Markus (2021)
    Aims To investigate the association between overweight/obesity and fatty liver index (FLI) on the odds of incident prediabetes/type 2 diabetes and non-alcoholic fatty liver disease (NAFLD) in 2020 participants after 10 years follow up. Methods At baseline (in 2001) 2020 participants, males and females, aged 24-39 years, were stratified according to body mass index (BMI), normal weight (= 25-= 30 kg/m(2)) and FLI (as high FLI >= 60 or low FLI
  • Porkka, Laura (Helsingfors universitet, 2016)
    Ei-alkoholiperäinen rasvamaksa (NAFLD) on noin neljäsosalla länsimaisesta väestöstä. Se on yhteydessä metaboliseen oireyhtymään, sydän- ja verisuonisairauksiin sekä tyypin 2 diabetekseen. Tämän tutkimuksen tavoite oli selvittää, mitkä tekijät korreloivat maksan rasvapitoisuuteen ja vaikuttavat sen muutoksiin seuranta-aikana. Erityisen kiinnostuneita oltiin liikunnan vaikutuksesta maksan rasvaan. Seurasimme keskimäärin 12 vuoden ajan 89 henkilöä, joiden maksan rasvapitoisuus määritettiin magneettiresonanssispektroskopialla (1H-MRS). Tutkimuksessa vahvistettiin maksan rasvapitoisuuden korreloivan merkitsevästi metabolisen oireyhtymän tekijöihin, maksaentsyymeihin sekä vapaa-ajan liikuntaan käytettyyn energiamäärään. Myös lähtötilanteen maksa-arvot ja metabolisen oireyhtymän komponentit, verenpainetta lukuun ottamatta, korreloivat merkitsevästi maksan rasvapitoisuuteen 12 vuotta myöhemmin. Monimuuttuja-analyysissä maksan rasvaa parhaiten ennakoivat ALAT-taso, ikä ja triglyseridit. Maksan rasvan muutokseen seuranta-aikana korreloivat muun muassa triglyseridien, vyötärönympäryksen, paastoinsuliinin, HbA1c:n, systolisen verenpaineen ja maksaentsyymien muutokset. Vaikka liikunta ei ollut merkitsevästi yhteydessä maksan rasvan muutokseen, sen vaikutus oli selvä. Liikuntamäärältään alimpaan kolmannekseen kuuluvien maksan rasvapitoisuuden mediaani oli yli yhdeksän prosenttiyksikköä korkeampi kuin ylimmällä kolmanneksella ja täysin passiivisista henkilöistä 70 %:lla oli NAFLD.
  • Manrique, Pilar; Zhu, Yifan; van der Oost, John; Herrema, Hilde; Nieuwdorp, Max; de Vos, Willem M.; Young, Mark (2021)
    Metabolic Syndrome (MetS) is a growing public health concern worldwide. Individuals with MetS have an increased risk for cardiovascular (CV) disease and type 2 diabetes (T2D). These diseases–in part preventable with the treatment of MetS–increase the chances of premature death and pose a great economic burden to health systems. A healthy gut microbiota is associated with a reduction in MetS, T2D, and CV disease. Treatment of MetS with fecal microbiota transplantation (FMT) can be effective, however, its success rate is intermediate and difficult to predict. Because bacteriophages significantly affect the microbiota membership and function, the aim of this pilot study was to explore the dynamics of the gut bacteriophage community after FMT in MetS subjects. We performed a longitudinal study of stool bacteriophages from healthy donors and MetS subjects before and after FMT treatment. Subjects were assigned to either a control group (self-stool transplant, n = 3) or a treatment group (healthy-donor-stool transplant; n-recipients = 6, n-donors = 5). Stool samples were collected over an 18-week period and bacteriophage-like particles were purified and sequenced. We found that FMT from healthy donors significantly alters the gut bacteriophage community. Subjects with better clinical outcome clustered closer to the heathy donor group, suggesting that throughout the treatment, their bacteriophage community was more similar to healthy donors. Finally, we identified bacteriophage groups that could explain these differences and we examined their prevalence in individuals from a larger cohort of MetS FMT trial. Trial information- http://www.trialregister.nl/trialreg/admin/rctview.asp?TC=2705; NTR 2705.
  • Puhkala, Jatta; Kukkonen-Harjula, Katriina; Mansikkamaki, Kirsi; Aittasalo, Minna; Hublin, Christer; Karmeniemi, Paula; Olkkonen, Seppo; Partinen, Markku; Sallinen, Mikael; Tokola, Kari; Fogelholm, Mikael (2015)
    Objectives We conducted a randomized trial among overweight long-distance drivers to study the effects of structured lifestyle counseling on body weight and cardiometabolic risk factors. Methods Men with waist circumference > 100 cm were randomized into a lifestyle counseling (LIFE, N=55) and a reference (REF, N=58) group. The LIFE group participated in monthly counseling on nutrition, physical activity, and sleep for 12 months aiming at 10% weight loss. After 12 months, the REF group participated in 3-month counseling. Assessments took place at 0, 12, and 24 months. Between-group differences in changes were analyzed by generalized linear modeling. Metabolic risk (Z score) was calculated from components of metabolic syndrome. Results The mean body weight change after 12 months was -3.4 kg in LIFE (N=47) and 0.7 kg in REF (N=48) [net difference -4.0 kg, 95% confidence interval (95% CI) -1.9- -6.2]. Six men in LIFE reduced body weight by >= 10%. Changes in waist circumference were -4.7 cm in LIFE and -0.1 cm in REF (net -4.7 cm, 95% CI -6.6- -2.7). Metabolic risk decreased more in the LIFE than REF group (net -1.2 points, 95% CI -0.6- -2.0). After 24 months follow-up, there were no between-group differences in changes in body weight (net -0.5 kg, 95% CI -3.8-2.9) or metabolic risk score (net 0.1 points; 95% CI -0.8-1.0) compared to baseline. Conclusions Weight reduction and decreases in cardiometabolic risk factors were clinically meaningful after 12 months of counseling.
  • Nyman, K.; Granér, M.; Pentikäinen, M.O.; Lundbom, J.; Hakkarainen, A.; Sirén, R.; Nieminen, M.S.; Taskinen, M.-R.; Lundbom, N.; Lauerma, K. (2018)
    Background and aims: Obesity and metabolic syndrome (MetS) are risk factors of atrial fibrillation (AF), but limited data exist on their effect on left atrial (LA) function. The aim of the study was to evaluate the effects of cardiac, hepatic and intra-abdominal ectopic fat depots and cardiometabolic risk factors on LA function in non-diabetic male subjects. Methods and results: Myocardial and hepatic triglyceride contents were measured with 1.5T H-1-magnetic resonance spectroscopy and LA and left ventricular function, visceral adipose tissue (VAT), subcutaneous adipose tissue (SAT), epicardial and pericardial fat by magnetic resonance imaging (MRI) in 33 men with MetS and 40 men without MetS. LA volumes were assessed using a novel three-chamber orientation based MRI approach. LA ejection fraction (EF) was lower in MetS patients than in the control group (44 +/- 7.7% in MetS vs. 49 +/- 8.6% in controls, p = 0.013) without LA enlargement, indicating LA dysfunction. LA EF correlated negatively with waist circumference, body mass index, SAT, VAT, fasting serum insulin, and homeostasis model assessment of insulin resistance index, and positively with fasting serum high-density lipoprotein cholesterol. VAT was the best predictor of reduced LA EF. Conclusions: MetS associates with subclinical LA dysfunction. Multiple components of MetS are related to LA dysfunction, notably visceral obesity and insulin resistance. Further studies are needed to elucidate the role of mechanical atrial remodeling in the development of AF. (C) 2018 The Italian Society of Diabetology, the Italian Society for the Study of Atherosclerosis, the Italian Society of Human Nutrition, and the Department of Clinical Medicine and Surgery, Federico II University. Published by Elsevier B.V. All rights reserved.
  • Hungarian Pancreatic Study Grp; Szentesi, Andrea; Parniczky, Andrea; Vincze, Aron; Sallinen, Ville; Hegyi, Peter (2019)
    Introduction: The incidence of acute pancreatitis (AP) and the prevalence of metabolic syndrome (MetS) are growing worldwide. Several studies have confirmed that obesity (OB), hyperlipidemia (HL), or diabetes mellitus (DM) can increase severity, mortality, and complications in AP. However, there is no comprehensive information on the independent or joint effect of MetS components on the outcome of AP. Our aims were (1) to understand whether the components of MetS have an independent effect on the outcome of AP and (2) to examine the joint effect of their combinations. Methods: From 2012 to 2017, 1435 AP cases from 28 centers were included in the prospective AP Registry. Patient groups were formed retrospectively based on the presence of OB, HL, DM, and hypertension (HT). The primary endpoints were mortality, severity, complications of AP, and length of hospital stay. Odds ratio (OR) with 95% confidence intervals (CIs) were calculated. Results: 1257 patients (55.7 +/- 17.0 years) were included in the analysis. The presence of OB was an independent predictive factor for renal failure [OR: 2.98 (CI: 1.33-6.66)] and obese patients spent a longer time in hospital compared to non-obese patients (12.1 vs. 10.4 days, p = 0.008). HT increased the risk of severe AP [OR: 3.41 (CI: 1.39-8.37)], renal failure [OR: 7.46 (CI: 1.61-34.49)], and the length of hospitalization (11.8 vs. 10.5 days, p = 0.020). HL increased the risk of local complications [OR: 1.51 (CI: 1.10-2.07)], renal failure [OR: 6.4 (CI: 1.93-21.17)], and the incidence of newly diagnosed DM [OR: 2.55 (CI: 1.26-5.19)]. No relation was found between the presence of DM and the outcome of AP. 906 cases (mean age +/- SD: 56.9 +/- 16.7 years) had data on all four components of MetS available. The presence of two, three, or four MetS factors increased the incidence of an unfavorable outcome compared to patients with no MetS factors. Conclusion: OB, HT, and HL are independent risk factors for a number of complications. HT is an independent risk factor for severity as well. Components of MetS strongly synergize each other's detrimental effect. It is important to search for and follow up on the components of MetS in AP.
  • Chan, Jessica L.; Kar, Sujata; Vanky, Eszter; Morin-Papunen, Laure; Piltonen, Terhi; Puurunen, Johanna; Tapanainen, Juha S.; Maciel, Gustavo Arantes Rosa; Hayashida, Sylvia Asaka Yamashita; Soares, Jose Maria; Baracat, Edmund Chada; Mellembakken, Jan Roar; Dokras, Anuja (2017)
    BACKGROUND: Polycystic ovary syndrome is a heterogeneous disorder and its presentation varies with race and ethnicity. Reproductive-age women with polycystic ovary syndrome are at increased risk of metabolic syndrome; however, it is not clear if prevalence of metabolic syndrome and clustering of its components differs based on race and ethnicity. Moreover, the majority of these women do not undergo routine screening for metabolic syndrome. OBJECTIVE: We sought to compare the prevalence of metabolic syndrome and clustering of its components in women with polycystic ovary syndrome in the United States with women in India, Brazil, Finland, and Norway. STUDY DESIGN: This is a cross-sectional study performed in 1089 women with polycystic ovary syndrome from 1999 through 2016 in 5 outpatient clinics in the United States, India, Brazil, Finland, and Norway. Polycystic ovary syndrome was defined by the Rotterdam criteria. Main outcome measures were: metabolic syndrome prevalence, blood pressure, body mass index, fasting high-density lipoprotein cholesterol, fasting triglycerides, and fasting glucose. Data from all sites were reevaluated for appropriate application of diagnostic criteria for polycystic ovary syndrome, identification of polycystic ovary syndrome phenotype, and complete metabolic workup. The US White women with polycystic ovary syndrome were used as the referent group. Logistic regression models were used to evaluate associations between race and metabolic syndrome prevalence and its components and to adjust for potential confounders, including age and body mass index. RESULTS: The median age of the entire cohort was 28 years. Women from India had the highest mean Ferriman-Gallwey score for clinical hyperandrogenism (15.6 +/- 6.5, P <.001). The age-adjusted odds ratio for metabolic syndrome was highest in US Black women at 4.52 (95% confidence interval, 2.46-8.35) compared with US White women. When adjusted for age and body mass index, the prevalence was similar in the 2 groups. Significantly more Black women met body mass index and blood pressure criteria (P <.001), and fewer met fasting triglycerides criteria (P <.05). The age- and body mass index-adjusted prevalence of metabolic syndrome was highest in Indian women (odds ratio, 6.53; 95% confidence interval, 3.47-12.30) with abnormalities in glucose and fasting high-density lipoprotein cholesterol criterion and in Norwegian women (odds ratio, 2.16; 95% confidence interval, 1.17-3.98) with abnormalities in blood pressure, glucose, and fasting high-density lipoprotein cholesterol criterion. The Brazilian and Finnish cohorts had similar prevalence of metabolic syndrome and its components compared to US White women. CONCLUSION: Despite a unifying diagnosis of polycystic ovary syndrome, there are significant differences in the prevalence of metabolic syndrome and clustering of its components based on race and ethnicity, which may reflect contributions from both racial and environmental factors. Our findings indicate the prevalence of metabolic syndrome components varies in women with polycystic ovary syndrome, such that compared to White women from the United States, Black US women had the highest prevalence, whereas women from India and Norway had a higher prevalence of metabolic syndrome independent of obesity. The differences in clustering of components of metabolic syndrome based on ethnicity highlight the need to routinely perform complete metabolic screening to identify specific targets for cardiovascular risk reduction strategies in these reproductive-age women.
  • Lemmetyinen, Juho (Helsingin yliopisto, 2015)
    Metabolista oireyhtymää (MBO) pidetään merkittävänä sydän- ja verisuonisairauksien sekä tyypin 2 diabeteksen (T2D) riskitekijänä. Ruokavalion laatua voidaan tutkia ruokavalioindekseillä. Indekseillä mitatun ruokavalion laa-dun ja MBO:n riskin välistä yhteyttä on kuitenkin tutkittu vähän. Tämän tutkimuksen tavoitteena oli tutkia ruoka-valion laadun ja MBO:n välistä yhteyttä kuuden vuoden seurantatutkimuksessa. Tutkimus perustui PPP-Botnia -tutkimuksen aineistoon. Tutkittavat olivat 18–75-vuotiaita pohjanmaalaisia (n=3053; naisia 53,7 %). Botnia-ruokavalioindeksi perustui suomalaisiin vuoden 2014 ravitsemussuosituksiin, ja sillä tutkittiin ruokavalion laatua tässä tutkimuksessa. Metabolinen oireyhtymä määriteltiin NCEP-ATP III (Nati-onal Cholesterol Education Program Adult Treatment Panel III) - määritelmän mukaisesti. Ruokavalion laadun ja MBO:n seurannan aikaista kehittymistä tai paranemista tutkittiin logistisella regressioanalyysillä laskettujen vedon-lyöntisuhteiden (OR) sekä 95 % -luottamusvälien (LV) perusteella. Lähtötilanteen ruokavalion laatu ei ollut yhteydessä MBO:n paranemiseen tai kehittymiseen. Ruokavalion laadun paraneminen seurannan aikana oli yhteydessä alhaisempaan MBO:sta paranemisen todennäköisyyteen yli 39-vuoti-ailla (OR=0,40; LV=0,18–0,93) sekä lihavilla ja ylipainoisilla tutkittavilla (OR=0,41; LV=0,18–0,91). Terveellistä ruokavaliota noudattaneiden muutkin elämäntavat olivat terveellisemmät, mutta terveydentila huo-nompi, kuin epäterveellistä ruokavaliota noudattaneiden. Sama tulos saatiin myös kun ikä huomioitiin mallissa. Mahdol-lisesti ikääntymisen ja T2D:n perhehistoria ovat voineet motivoida tutkittavia muuttamaan elämäntapojaan terveel-lisemmäksi, minkä vuoksi tutkimuksessa havaittiin yhteys terveellisten elämäntapojen ja korkeamman MBO:n esiintyvyyden välillä.
  • Depommier, Clara; Everard, Amandine; Druart, Celine; Maiter, Dominique; Thissen, Jean-Paul; Loumaye, Audrey; Hermans, Michel P.; Delzenne, Nathalie M.; de Vos, Willem M.; Cani, Patrice D. (2021)
    Reduction of A. muciniphila relative abundance in the gut microbiota is a widely accepted signature associated with obesity-related metabolic disorders. Using untargeted metabolomics profiling of fasting plasma, our study aimed at identifying metabolic signatures associated with beneficial properties of alive and pasteurized A. muciniphila when administrated to a cohort of insulin-resistant individuals with metabolic syndrome. Our data highlighted either shared or specific alterations in the metabolome according to the form of A. muciniphila administered with respect to a control group. Common responses encompassed modulation of amino acid metabolism, characterized by reduced levels of arginine and alanine, alongside several intermediates of tyrosine, phenylalanine, tryptophan, and glutathione metabolism. The global increase in levels of acylcarnitines together with specific modulation of acetoacetate also suggested induction of ketogenesis through enhanced beta-oxidation. Moreover, our data pinpointed some metabolites of interest considering their emergence as substantial compounds pertaining to health and diseases in the more recent literature.
  • Ek, Viktoria (Helsingin yliopisto, 2018)
    Background: The metabolic syndrome predisposes for cardiovascular disease and is characterized by abdominal obesity, dyslipidemia, insulin resistance, hypertension and prothrombotic and proinflammatory states. All obese people do not, however, develop metabolic syndrome. Subcutaneous adipose tissue (SAT) hypertrophy have been linked to metabolic complications in obesity. The aim in this study was to asses if high dietary fructose consumption has an impact on SAT adipocyte size and whether adipocyte size is a metabolic determinant in obese males with metabolic syndrome. Methods: To evaluate the effects of fructose, 34 obese male subjects consumed fructose-sweetened beverages containing 75 g fructose/day for 12 weeks. Subcutaneous abdominal adipose tissue was obtained with needle aspiration technique and adipocyte sizes were measured under a light microscope. Changes in liver fat and cardiometabolic risk parameters were also analyzed. Results: Added dietary fructose intake for 12 weeks did not affect the SAT adipocyte size in subjects with obesity (P=0,417). Subjects showed increased levels of triglycerides (P=0,034) and increased liver fat content (P=0,011) after fructose intervention. Subgroups of subjects with large and small adipocytes (under or over the median value) responded differently to fructose consumption in respect of liver fat gain. Conclusion: SAT adipocyte size was not a major determinant of metabolic health in obese men with features of the metabolic syndrome. Added dietary fructose 75 g per day for 12 weeks did not result in changes in adipocyte size but subgroup of subjects showing decrease in adipocyte size during fructose intervention gained in liver fat. The inability of the SAT adipocytes to expand may play a role in development of the metabolic syndrome in these subjects.
  • Silventoinen, Karri; Gouveia, Elvio; Jelenkovic, Aline; Maia, Jose; Antunes, Antonio M.; Pinheiro de Carvalho, Miguel A. A.; Brehm, Antonio M.; Thomis, Martine; Lefevre, Johan; Kaprio, Jaakko; Freitas, Duarte (2017)
    Background: It is well known that metabolic risk factors of cardiovascular diseases are correlated, but the background of this clustering in children is more poorly known than in adults. Thus, we studied the contribution of genetic and environmental factors to the clustering of metabolic traits in childhood and adolescence. Data and Methods: Nine metabolic traits were measured in 214 complete twin pairs aged 3-18 years in the Autonomous Region of Madeira, Portugal, in 2007 and 2008. The variation of and covariations between the traits were decomposed into genetic and environmental components by using classical genetic twin modeling. Results: A model, including additive genetic and environmental factors unique for each twin individual, explained the variation of metabolic factors well. Under this model, the heritability estimates varied from 0.47 (systolic blood pressure in children under 12 years of age) to 0.91 (high-density lipoprotein [HDL] cholesterol in adolescents 12 years of age or older). The most systematic correlations were found between adiposity (body mass index and waist circumference) and blood lipids (HDL cholesterol, low-density lipoprotein cholesterol, and triglycerides), as well as blood pressure. These correlations were mainly explained by common genetic factors. Conclusions: Our results suggest that obesity, in particular, is behind the clustering of metabolic factors in children and adolescents. Both general and abdominal obesity partly share the same genetic background as blood lipids and blood pressure. Obesity prevention early in childhood is important in reducing the risk of metabolic diseases in adulthood.
  • Luukkonen, Panu K.; Qadri, Sami; Lehtimäki, Tiina E.; Juuti, Anne; Sammalkorpi, Henna; Penttilä, Anne K.; Hakkarainen, Antti; Orho-Melander, Marju; Arola, Johanna; Yki-Järvinen, Hannele (2021)
    Context: The I148M (rs738409-G) variant in PNPLA3 increases liver fat content but may be protective against cardiovascular disease. Insulin resistance (IR) amplifies the effect of PNPLA3-I148M on liver fat. Objective: To study whether PNPLA3-I148M confers an antihyperlipidemic effect in insulin-resistant patients. Design: Cross-sectional study comparing the impact of PNPLA3-I148M on plasma lipids and lipoproteins in 2 cohorts, both divided into groups based on rs738409-G allele carrier status and median HOMA-IR. Setting: Tertiary referral center. Patients: A total of 298 obese patients who underwent a liver biopsy during bariatric surgery (bariatric cohort: age 49 +/- 9 years, body mass index [BMI] 43.2 +/- 6.8 kg/m(2)), and 345 less obese volunteers in whom liver fat was measured by proton magnetic resonance spectroscopy (nonbariatric cohort: age 45 +/- 14 years, BMI 29.7 +/- 5.7 kg/m(2)). Main Outcome Measures: Nuclear magnetic resonance profiling of plasma lipids, lipoprotein particle subclasses and their composition. Results: In both cohorts, individuals carrying the PNPLA3-I148M variant had significantly higher liver fat content than noncarriers. In insulin-resistant and homozygous carriers, PNPLA3-I148M exerted a distinct antihyperlipidemic effect with decreased very-low-density lipoprotein (VLDL) and low-density lipoprotein (LDL) particles and their constituents, and increased high-density lipoprotein particles and their constituents, compared with noncarriers. VLDL particles were smaller and LDL particles larger in PNPLA3-I148M carriers. These changes were geometrically opposite to those due to IR. PNPLA3-I148M did not have a measurable effect in patients with lower IR, and its effect was smaller albeit still significant in the less obese than in the obese cohort. Conclusions: PNPLA3-I148M confers an antiatherogenic plasma lipid profile particularly in insulin-resistant individuals.