Advanced

Familial risks for gallstones in the population of Sweden

Hemminki, Kari LU ; Hemminki, Otto ; Försti, Asta LU ; Sundquist, Kristina LU ; Sundquist, Jan LU and Li, Xinjun LU (2017) In BMJ open gastroenterology 4(1).
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... (More)

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.

(Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
BMJ open gastroenterology
volume
4
issue
1
article number
e000188
pages
6 pages
publisher
BMJ Publishing Group
external identifiers
  • pmid:29333277
ISSN
2054-4774
DOI
10.1136/bmjgast-2017-000188
language
English
LU publication?
yes
id
1581f408-7d9d-4e9d-8b5e-8ce398948f44
date added to LUP
2019-01-30 10:46:13
date last changed
2019-03-18 13:55:43
@article{1581f408-7d9d-4e9d-8b5e-8ce398948f44,
  abstract     = {<p>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.</p><p>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.</p><p>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 &gt;10; these persons accounted for 7.7% of all familial cases. The spousal risk was only slightly increased to 1.18.</p><p>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.</p>},
  author       = {Hemminki, Kari and Hemminki, Otto and Försti, Asta and Sundquist, Kristina and Sundquist, Jan and Li, Xinjun},
  issn         = {2054-4774},
  language     = {eng},
  number       = {1},
  publisher    = {BMJ Publishing Group},
  series       = {BMJ open gastroenterology},
  title        = {Familial risks for gallstones in the population of Sweden},
  url          = {http://dx.doi.org/10.1136/bmjgast-2017-000188},
  doi          = {10.1136/bmjgast-2017-000188},
  volume       = {4},
  year         = {2017},
}