HOME
Leading the way to a cure

SCIENTIFIC PUBLICATIONS BY ALR FUNDED RESEARCHERS

High density genotyping of STAT4 gene reveals multiple haplotypic associations with Systemic Lupus Erythematosus in different racial groups - Chaim O. Jacob MD, PhD

Objective: Systemic lupus erythematosus (SLE) is the prototypic systemic autoimmune disorder with complex etiology and a strong genetic component. Recently, gene products involved in the interferon pathway have been under intense investigation in SLE pathogenesis. STAT1 and STAT4 are transcription factors that play key roles in the interferon and Th1 signaling pathways, making them attractive candidates for SLE susceptibility.

Methods: Fifty-six single-nucleotide polymorphisms (SNPs) across STAT1 and STAT4 genes on chromosome 2 were genotyped using Illumina platform as a part of extensive association study in a large collection of 9923 lupus cases and controls from different racial groups. DNA from patients and controls was obtained from peripheral blood. Principal component analyses and population based case-control association analyses were performed and the p values, FDR q values and Odds ratios with 95% confidence intervals (95% CIs) were calculated.

Results: We observed strong genetic associations with SLE and multiple SNPs located within the STAT4 gene in different ethnicities (Fisher combined p= 7.02x10-25). In addition to strong confirmation of the association in the 3rd intronic region of this gene reported previously, we identified additional haplotypic association across STAT4 gene and in particular a common risk haplotype that is found in multiple racial groups. In contrast, only a relatively weak suggestive association was observed with STAT1, probably due to the proximity to STAT4.

...

Read the Full article here

Source: Alliance for Lupus Research
Funded Research



1.5 million

people in the U.S. have Lupus.

90 million

dollars committed to lupus research by the Alliance for Lupus Research.


We're walking across the United States to raise awareness and funds for lupus research.

Can't make it? Join our National Virtual Walk to participate anytime, anywhere.


Show your support by visiting the Alliance for Lupus Research online store. Discover the perfect gift, or prepare for a walk with our selection of apparel and accessories.

Powered by Convio
nonprofit software