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Familial risks in urolithiasis in the population of Sweden

Hemminki, Kari LU ; Hemminki, Otto; Försti, Asta LU ; Sundquist, Kristina LU ; Sundquist, Jan LU and Li, Xinjun LU (2018) In BJU International 121(3). p.479-485
Abstract

Objective: To assess detailed familial risks for medically diagnosed urolithiasis (UL, urinary tract stone disease) based on nationwide hospital and population records. Patients/Subjects and Methods: Subjects were identified from the Swedish Multigeneration Register in which there were 211 718 patients with UL. Standardised incidence ratios (SIRs) were calculated by comparison to individuals without a family history of UL. Results: The highest familial SIRs were invariably found for the same (concordant) type of UL: 2.18 for kidney, 2.20 for ureter, and 1.93 for bladder. SIRs increased from 1.84, when one parent was affected, to 3.54 when both parents were affected, which was a multiplicative interaction. The SIR was 1.79 when one... (More)

Objective: To assess detailed familial risks for medically diagnosed urolithiasis (UL, urinary tract stone disease) based on nationwide hospital and population records. Patients/Subjects and Methods: Subjects were identified from the Swedish Multigeneration Register in which there were 211 718 patients with UL. Standardised incidence ratios (SIRs) were calculated by comparison to individuals without a family history of UL. Results: The highest familial SIRs were invariably found for the same (concordant) type of UL: 2.18 for kidney, 2.20 for ureter, and 1.93 for bladder. SIRs increased from 1.84, when one parent was affected, to 3.54 when both parents were affected, which was a multiplicative interaction. The SIR was 1.79 when one sibling was affected but it increased to 24.91 when two siblings were affected. Such excessive risks (5.2% of familial cases) are probably explained by high-penetrant genes. A low SIR of 1.29 between spouses suggested a minor contribution by shared environmental factors on the familial risk. Conclusions: The results point to underlying genetic causes for the observed familial clustering and establish the genetic landscape of UL. Family histories should be taken in UL diagnostics and prevention could follow guidelines recommended for recurrent UL.

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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
bladder stones, heritability, kidney stones, ureter stones
in
BJU International
volume
121
issue
3
pages
7 pages
publisher
Blackwell Science Ltd
external identifiers
  • scopus:85042485402
ISSN
1464-4096
DOI
10.1111/bju.14096
language
English
LU publication?
yes
id
bc3077ea-63b8-4d71-b66e-6e120d229d93
date added to LUP
2018-03-17 19:25:44
date last changed
2019-05-21 04:01:59
@article{bc3077ea-63b8-4d71-b66e-6e120d229d93,
  abstract     = {<p>Objective: To assess detailed familial risks for medically diagnosed urolithiasis (UL, urinary tract stone disease) based on nationwide hospital and population records. Patients/Subjects and Methods: Subjects were identified from the Swedish Multigeneration Register in which there were 211 718 patients with UL. Standardised incidence ratios (SIRs) were calculated by comparison to individuals without a family history of UL. Results: The highest familial SIRs were invariably found for the same (concordant) type of UL: 2.18 for kidney, 2.20 for ureter, and 1.93 for bladder. SIRs increased from 1.84, when one parent was affected, to 3.54 when both parents were affected, which was a multiplicative interaction. The SIR was 1.79 when one sibling was affected but it increased to 24.91 when two siblings were affected. Such excessive risks (5.2% of familial cases) are probably explained by high-penetrant genes. A low SIR of 1.29 between spouses suggested a minor contribution by shared environmental factors on the familial risk. Conclusions: The results point to underlying genetic causes for the observed familial clustering and establish the genetic landscape of UL. Family histories should be taken in UL diagnostics and prevention could follow guidelines recommended for recurrent UL.</p>},
  author       = {Hemminki, Kari and Hemminki, Otto and Försti, Asta and Sundquist, Kristina and Sundquist, Jan and Li, Xinjun},
  issn         = {1464-4096},
  keyword      = {bladder stones,heritability,kidney stones,ureter stones},
  language     = {eng},
  month        = {03},
  number       = {3},
  pages        = {479--485},
  publisher    = {Blackwell Science Ltd},
  series       = {BJU International},
  title        = {Familial risks in urolithiasis in the population of Sweden},
  url          = {http://dx.doi.org/10.1111/bju.14096},
  volume       = {121},
  year         = {2018},
}