The genetic components of idiopathic nephrolithiasis

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Nephrolithiasis is a cause of significant morbidity and medical care expenses worldwide. Its prevalence has increased steadily during the last three decades among both adults and children. This trend suggests that changing environmental factors play a significant role in the risk of developing kidney stones although, conversely, there are many indications that genes play an important role in this condition as well. A limited number of monogenic forms have been identified, but the majority of nephrolithiasis cases are the result of complex, multi-factorial interactions between genetic inheritance and environmental exposure. Scientific evidence indicates that inheritance accounts for about half of the risk of common forms, making these forms suitable for investigation by genetic analysis. Here, we review the numerous studies that have been conducted to establish the role of genes in determining the risk of nephrolithiasis, the differential contribution of genes to this risk, and the confounding influence that environmental variables have on genetic studies.

Original languageEnglish (US)
Pages (from-to)337-346
Number of pages10
JournalPediatric Nephrology
Volume26
Issue number3
DOIs
StatePublished - Mar 2011

Fingerprint

Nephrolithiasis
Genes
Kidney Calculi
Environmental Exposure
Morbidity

Keywords

  • Association studies
  • Complex diseases
  • Genetics
  • Linkage analysis
  • Nephrolithiasis

ASJC Scopus subject areas

  • Nephrology
  • Pediatrics, Perinatology, and Child Health

Cite this

The genetic components of idiopathic nephrolithiasis. / Attanasio, Massimo.

In: Pediatric Nephrology, Vol. 26, No. 3, 03.2011, p. 337-346.

Research output: Contribution to journalArticle

@article{e158b69364e34272b38e7fdc436c8925,
title = "The genetic components of idiopathic nephrolithiasis",
abstract = "Nephrolithiasis is a cause of significant morbidity and medical care expenses worldwide. Its prevalence has increased steadily during the last three decades among both adults and children. This trend suggests that changing environmental factors play a significant role in the risk of developing kidney stones although, conversely, there are many indications that genes play an important role in this condition as well. A limited number of monogenic forms have been identified, but the majority of nephrolithiasis cases are the result of complex, multi-factorial interactions between genetic inheritance and environmental exposure. Scientific evidence indicates that inheritance accounts for about half of the risk of common forms, making these forms suitable for investigation by genetic analysis. Here, we review the numerous studies that have been conducted to establish the role of genes in determining the risk of nephrolithiasis, the differential contribution of genes to this risk, and the confounding influence that environmental variables have on genetic studies.",
keywords = "Association studies, Complex diseases, Genetics, Linkage analysis, Nephrolithiasis",
author = "Massimo Attanasio",
year = "2011",
month = "3",
doi = "10.1007/s00467-010-1562-6",
language = "English (US)",
volume = "26",
pages = "337--346",
journal = "Pediatric Nephrology",
issn = "0931-041X",
publisher = "Springer Verlag",
number = "3",

}

TY - JOUR

T1 - The genetic components of idiopathic nephrolithiasis

AU - Attanasio, Massimo

PY - 2011/3

Y1 - 2011/3

N2 - Nephrolithiasis is a cause of significant morbidity and medical care expenses worldwide. Its prevalence has increased steadily during the last three decades among both adults and children. This trend suggests that changing environmental factors play a significant role in the risk of developing kidney stones although, conversely, there are many indications that genes play an important role in this condition as well. A limited number of monogenic forms have been identified, but the majority of nephrolithiasis cases are the result of complex, multi-factorial interactions between genetic inheritance and environmental exposure. Scientific evidence indicates that inheritance accounts for about half of the risk of common forms, making these forms suitable for investigation by genetic analysis. Here, we review the numerous studies that have been conducted to establish the role of genes in determining the risk of nephrolithiasis, the differential contribution of genes to this risk, and the confounding influence that environmental variables have on genetic studies.

AB - Nephrolithiasis is a cause of significant morbidity and medical care expenses worldwide. Its prevalence has increased steadily during the last three decades among both adults and children. This trend suggests that changing environmental factors play a significant role in the risk of developing kidney stones although, conversely, there are many indications that genes play an important role in this condition as well. A limited number of monogenic forms have been identified, but the majority of nephrolithiasis cases are the result of complex, multi-factorial interactions between genetic inheritance and environmental exposure. Scientific evidence indicates that inheritance accounts for about half of the risk of common forms, making these forms suitable for investigation by genetic analysis. Here, we review the numerous studies that have been conducted to establish the role of genes in determining the risk of nephrolithiasis, the differential contribution of genes to this risk, and the confounding influence that environmental variables have on genetic studies.

KW - Association studies

KW - Complex diseases

KW - Genetics

KW - Linkage analysis

KW - Nephrolithiasis

UR - http://www.scopus.com/inward/record.url?scp=79955018480&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79955018480&partnerID=8YFLogxK

U2 - 10.1007/s00467-010-1562-6

DO - 10.1007/s00467-010-1562-6

M3 - Article

VL - 26

SP - 337

EP - 346

JO - Pediatric Nephrology

JF - Pediatric Nephrology

SN - 0931-041X

IS - 3

ER -