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Single nucleotide polymorphisms of autophagy‐related 16‐like 1 gene are associated with ankylosing spondylitis in females: a case–control study
Author(s) -
Li Xiaona,
Chen Mengya,
Zhang Xu,
Wang Mengmeng,
Yang Xiao,
Xia Qing,
Han Renfang,
Liu Rui,
Xu Shengqian,
Xu Jianhua,
Shuai Zongwen,
Pan Faming
Publication year - 2018
Publication title -
international journal of rheumatic diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.795
H-Index - 41
eISSN - 1756-185X
pISSN - 1756-1841
DOI - 10.1111/1756-185x.13183
Subject(s) - single nucleotide polymorphism , haplotype , linkage disequilibrium , medicine , bonferroni correction , odds ratio , genotyping , snp , allele , genetics , ankylosing spondylitis , genotype , genetic association , biology , gene , statistics , mathematics
Aims To investigate the associations of autophagy‐related 16‐like 1 ( ATG16L1 ) gene single nucleotide polymorphisms ( SNP s) with ankylosing spondylitis ( AS ) in a Chinese Han population. Methods Six hundred and forty‐nine AS patients from the First Affiliation Hospital of Anhui Medical University and 628 matched controls were selected. Genotyping for five SNP s in the ATG16L1 gene (rs4663421, rs2241880, rs4663396, rs6758317 and rs6431655) was performed using the improved multiplex ligase detection reaction ( iMLDR ) method. Haplotypes were built after linkage disequilibrium ( LD ) analysis. All analyses were stratified by gender. Results Significant differences in the genotype frequencies at rs4663421 were found between female AS patients and female controls ( P = 0.033). The frequencies of allele G of rs4663421 and allele C of rs6758317 were lower in AS patients than controls (odds ratio [ OR ] = 0.391, 95% CI = 0.175–0.876, P = 0.019; OR = 0.499, 95% CI = 0.263–0.949, P = 0.032, respectively) in females. However, no association remained significant after Bonferroni correction. rs4663396 and rs6758317 have been tested in high LD , and were used to construct three haplotypes: ht1 ( CC ), ht2 ( TT ) and ht3 ( CT ). The frequency of ht2 ( TT ) haplotype was higher in AS patients than controls ( OR = 2.003, 95% CI = 1.053–3.808, P = 0.032) in females; similarly, no association existed after Bonferroni correction. Conclusions Two SNP s (rs4663421 and rs6758317) and the TT haplotype of the ATG16L1 gene are possibly associated with AS susceptibility in a Chinese Han female population.