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A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

TRAC variants associate with IgA nephropathy.

Ru Li¹, Chao Xue, Caixia Li

¹Department of Medical Genetics and Center for Genome Research, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, China.

Journal of the American Society of Nephrology : JASN

|May 28, 2009

Summary

Genetic variants in the T cell receptor alpha constant gene (TRAC) are associated with an increased risk of developing IgA nephropathy. This study identifies specific TRAC gene variations linked to this kidney disease.

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Published on: December 15, 2011

Area of Science:

Genetics
Immunology
Nephrology

Background:

The T cell receptor alpha constant gene (TRAC) plays a role in immune responses.
Previous studies on the association between TRAC gene variants and IgA nephropathy have yielded controversial results.

Purpose of the Study:

To investigate the association between TRAC gene variants and susceptibility to IgA nephropathy.
To analyze linkage disequilibrium, haplotypes, and functional implications of TRAC variants.

Main Methods:

Resequencing of the TRAC gene in IgA nephropathy patients and controls.
Linkage disequilibrium analysis, haplotype construction, and association studies.
Family-based and case-control studies to validate findings.
Functional analysis of TRAC variants' effect on transcription activity.

Main Results:

Identified nine linkage disequilibrium blocks and a hypervariable region with six single-nucleotide polymorphisms (SNPs) in the TRAC gene.
Multiple SNPs and two specific haplotypes were significantly associated with IgA nephropathy.
Replication of haplotype associations in independent family-based and case-control cohorts.
Overtra nsmitted/observed haplotypes showed reduced transcription activity.

Conclusions:

The study provides evidence for an association between TRAC gene variants and susceptibility to IgA nephropathy.
TRAC variants may influence the risk of developing this kidney disease through altered gene expression.