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Open AccessJournal ArticleDOI

Genetic loci influencing kidney function and chronic kidney disease

John C. Chambers, +102 more
- 01 May 2010 - 
- Vol. 42, Iss: 5, pp 373-375
TLDR
Using genome-wide association, common variants at 2p12–p13, 6q26, 17q23 and 19q13 associated with serum creatinine associated with chronic kidney disease are identified.
Abstract
Using genome-wide association, we identify common variants at 2p12-p13, 6q26, 17q23 and 19q13 associated with serum creatinine, a marker of kidney function (P = 10(-10) to 10(-15)). Of these, rs10206899 (near NAT8, 2p12-p13) and rs4805834 (near SLC7A9, 19q13) were also associated with chronic kidney disease (P = 5.0 x 10(-5) and P = 3.6 x 10(-4), respectively). Our findings provide insight into metabolic, solute and drug-transport pathways underlying susceptibility to chronic kidney disease.

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Journal ArticleDOI

An integrated map of genetic variation from 1,092 human genomes

TL;DR: It is shown that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways, and that each individual contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites.
Journal ArticleDOI

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

Georg Ehret, +391 more
- 06 Oct 2011 - 
TL;DR: A genetic risk score based on 29 genome-wide significant variants was associated with hypertension, left ventricular wall thickness, stroke and coronary artery disease, but not kidney disease or kidney function, and these findings suggest potential novel therapeutic pathways for cardiovascular disease prevention.
Journal ArticleDOI

Evolving importance of kidney disease: from subspecialty to global health burden

TL;DR: Strong, graded, and consistent associations exist between clinical prognosis and two hallmarks of chronic kidney disease: reduced glomerular filtration rate and increased urinary albumin excretion.
Journal ArticleDOI

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.

TL;DR: In this paper, the authors carried out a genome-wide association study in 61,089 individuals, identifying 42 loci associated with concentrations of liver enzymes in plasma, of which 32 are new associations.
References
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Journal ArticleDOI

Principal components analysis corrects for stratification in genome-wide association studies

TL;DR: This work describes a method that enables explicit detection and correction of population stratification on a genome-wide scale and uses principal components analysis to explicitly model ancestry differences between cases and controls.
Journal ArticleDOI

Assessing Kidney Function — Measured and Estimated Glomerular Filtration Rate

TL;DR: Current methods of measuring GFR and GFR-estimating equations and their strengths and weaknesses as applied to chronic kidney disease are considered.
Journal ArticleDOI

Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development.

TL;DR: Examining the expression of 5 of these genes, Tbx1–Tbx5, across a wide range of embryonic stages from blastocyst through gastrulation and early organogenesis by in situ hybridization of wholemounts and tissue sections shows a good indication that the T‐box family of genes has important roles in inductive interactions in many stages of mammalian embryogenesis.
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