Familial risks for gallstones in the population of Sweden

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dc.contributor University of Helsinki, Research Programs Unit en
dc.contributor.author Hemminki, Kari
dc.contributor.author Hemminki, Otto
dc.contributor.author Försti, Asta
dc.contributor.author Sundquist, Kristina
dc.contributor.author Sundquist, Jan
dc.contributor.author Li, Xinjun
dc.date.accessioned 2019-02-20T11:37:01Z
dc.date.available 2019-02-20T11:37:01Z
dc.date.issued 2017-09
dc.identifier.citation Hemminki , K , Hemminki , O , Försti , A , Sundquist , K , Sundquist , J & Li , X 2017 , ' Familial risks for gallstones in the population of Sweden ' , BMJ open gastroenterology , vol. 4 , no. 1 , 000188 . https://doi.org/10.1136/bmjgast-2017-000188 en
dc.identifier.issn 2054-4774
dc.identifier.other PURE: 122468459
dc.identifier.other PURE UUID: 79424e5c-5c7d-4f3c-a4cf-32d302505f58
dc.identifier.other WOS: 000440227600023
dc.identifier.uri http://hdl.handle.net/10138/299244
dc.description.abstract Objectives Gallstone disease (cholelithiasis) has a familial component, but detailed data on the modification of familial risk are lacking. Using nationwide hospital and population records, we aimed to determine detailed familial risks for medically diagnosed gallstone disease. Design Subjects were obtained from the Multigeneration Register, which contains family data on the Swedish population, and patients with gallstone disease were identified from the Hospital Discharge Register (1964-2015) and the Outpatient Register (2001-2015). Standardised incidence ratios (SIRs) were calculated as the ratio of observed to expected number of cases. Results Gallstone disease was diagnosed in 660 732 patients, with an overall incidence of 131 per 100 000 person-years. Familial cases accounted for 36.0% of all patients with gallstone disease. Of these, 50.9% had a parental family history (SIR 1.62), 35.1% had a sibling history (SIR 1.75) and 14.0% had a parental+sibling history (SIR 2.58). Among a total of 54 630 affected siblings, 84.4% were sibling pairs (SIR 1.55). However, the remaining 15.6% of the affected siblings constituted the high-risk group of multiple affected siblings and an SIR >10; these persons accounted for 7.7% of all familial cases. The spousal risk was only slightly increased to 1.18. Conclusions Overall, the results point to the underlying genetic causes for the observed familial clustering, which may involve polygenic gene-environmental interactions for most familial cases but high-risk genes in close to 10% of cases. Family histories should be taken into account in the medical setting and used for counselling of at-risk individuals. en
dc.format.extent 6
dc.language.iso eng
dc.relation.ispartof BMJ open gastroenterology
dc.rights en
dc.subject BILE-DUCT STONES en
dc.subject CANCER HISTORY en
dc.subject DISEASE en
dc.subject ENVIRONMENT en
dc.subject VALIDITY en
dc.subject GENETICS en
dc.subject 3121 Internal medicine en
dc.title Familial risks for gallstones in the population of Sweden en
dc.type Article
dc.description.version Peer reviewed
dc.identifier.doi https://doi.org/10.1136/bmjgast-2017-000188
dc.type.uri info:eu-repo/semantics/other
dc.type.uri info:eu-repo/semantics/publishedVersion
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