Open Access
Epidermal growth factor gene is a newly identified candidate gene for gout
Author(s) -
Lin Han,
Chenglong Cao,
Zhaotong Jia,
Shiguo Liu,
Zhen Liu,
Ruosai Xin,
Can Wang,
Xinde Li,
Wei Ren,
Xuefeng Wang,
Changgui Li
Publication year - 2016
Publication title -
scientific reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.24
H-Index - 213
ISSN - 2045-2322
DOI - 10.1038/srep31082
Subject(s) - gene , candidate gene , gout , bioinformatics , computational biology , genetics , biology , medicine
Chromosome 4q25 has been identified as a genomic region associated with gout. However, the associations of gout with the genes in this region have not yet been confirmed. Here, we performed two-stage analysis to determine whether variations in candidate genes in the 4q25 region are associated with gout in a male Chinese Han population. We first evaluated 96 tag single nucleotide polymorphisms (SNPs) in eight inflammatory/immune pathway- or glucose/lipid metabolism-related genes in the 4q25 region in 480 male gout patients and 480 controls. The SNP rs12504538, located in the elongation of very-long-chain-fatty-acid-like family member 6 gene ( Elovl6 ), was found to be associated with gout susceptibility ( P adjusted = 0.00595). In the second stage of analysis, we performed fine mapping analysis of 93 tag SNPs in Elovl6 and in the epidermal growth factor gene ( EGF ) and its flanking regions in 1017 male patients gout and 1897 healthy male controls. We observed a significant association between the T allele of EGF rs2298999 and gout (odds ratio = 0.77, 95% confidence interval = 0.67–0.88, P adjusted = 6.42 × 10 −3 ). These results provide the first evidence for an association between the EGF rs2298999 C/T polymorphism and gout. Our findings should be validated in additional populations.