In:
International Journal of Rheumatic Diseases, Wiley, Vol. 21, No. 1 ( 2018-01), p. 322-329
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
1756-1841
,
1756-185X
DOI:
10.1111/apl.2018.21.issue-1
DOI:
10.1111/1756-185X.13183
Language:
English
Publisher:
Wiley
Publication Date:
2018
detail.hit.zdb_id:
2427877-4
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