To assess detailed familial risks for medically diagnosed urolithiasis (UL, urinary tract stone disease) based on nationwide hospital and population records.
Subjects were identified from the Swedish Multigeneration Register in which 211,718 UL patients. Standardized incidence ratios (SIRs) were calculated by comparison to individuals without a family history of UL.
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 likely explained by high-penetrant genes. Low SIR of 1.29 between spouses suggested minor contribution by shared environmental factors on the familial risk.
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. This article is protected by copyright. All rights reserved.
BJU international. 2017 Dec 13 [Epub ahead of print]
Kari Hemminki, Otto Hemminki, Asta Försti, Kristina Sundquist, Jan Sundquist, Xinjun Li
Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, D-69120, Heidelberg, Germany., Department of Urology, Helsinki University Hospital, Helsinki, Finland., Center for Primary Health Care Research, Lund University, 205 02, Malmö, Sweden.
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