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Gallstones
Original research
Familial risks for gallstones in the population of Sweden
  1. Kari Hemminki1,2,
  2. Otto Hemminki3,4,
  3. Asta Försti1,2,
  4. Kristina Sundquist2,5,6,
  5. Jan Sundquist2,5,6,
  6. Xinjun Li2
  1. 1 Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany
  2. 2 Center for Primary Health Care Research, Lund University, Helsinki, Finland
  3. 3 Department of Abdominal Surgery and Urology, Helsinki University Hospital, Helsinki, Finland
  4. 4 Cancer Gene Therapy Group, Faculty of Medicine, University of Helsinki, Helsinki, Finland
  5. 5 Department of Family Medicine and Community Health, Icahn School of Medicine at Mount Sinai, New York, USA
  6. 6 Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, USA
  1. Correspondence to Dr Kari Hemminki; k.hemminki{at}dkfz.de

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.

  • gallbladder
  • cholelithiasis
  • affected family members
  • heritability

This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/

https://doi.org/10.1136/bmjgast-2017-000188

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    Footnotes

    • Contributors KH and OH designed the study, KS and JS provided the datasets, XL and KH carried out analyses, KH wrote the manuscript, all authors helped to modify the interpretations and all authors approved the final text.

    • Funding This study was supported by Deutsche Krebshilfe and ALF grants of Region Skåne.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.