• Postgrad Med J · Dec 2017

    Association between the autophagy-related gene ULK1 and ankylosing spondylitis susceptibility in the Chinese Han population: a case-control study.

    • Xu Zhang, Renfang Han, Mengmeng Wang, Xiaona Li, Xiao Yang, Qing Xia, Rui Liu, Yaping Yuan, Xingxing Hu, Mengya Chen, Guangming Jiang, Yubo Ma, Jiajia Yang, Shengqian Xu, Jianhua Xu, Zongwen Shuai, and Faming Pan.
    • Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui, China.
    • Postgrad Med J. 2017 Dec 1; 93 (1106): 752-757.

    PurposeAnkylosing spondylitis (AS), inflammatory bowel disease and Crohn's disease (CD) often coexist in the same patient and these diseases have remarkably strong overlaps in genetic association. The association between Unc51like kinase 1 (ULK1) gene polymorphisms and CD has been reported, and the aim of the current study was to investigate whether ULK1 polymorphisms are also associated with susceptibility to AS in the Chinese Han population.MethodsFive tagging single nucleotide polymorphisms in the ULK1 gene (rs9652059, rs11616018, rs12303764, rs4964879 and rs7300908) were genotyped by the improved multiplex ligase detection reaction method in a cohort of patients with AS (n=649) and controls (n=628). Various genetic models were performed and haplotypes were constructed after linkage disequilibrium analysis.ResultsA statistically significant difference was found in the dominant model of the rs9652059 polymorphism (OR (95% CI) = 0.796 (0.638 to 0.994), χ2 = 4.064, p= 0.044). Haplotypes were conducted between rs9652059 and rs11616018, rs11616018 and rs4964879, rs9652059 and rs4964879 based on D' ≥0.9 and r2 ≥ 0.6. Ht5 (rs9652059C-rs4964879G) haplotype was associated with AS (OR (95% CI) = 0.834 (0.706 to 0.985), χ2=4.555, p= 0.0328) and other two haplotypes were marginally correlated with AS (ht2 (rs9652059C-rs11616018T): OR (95% CI) = 0.846 (0.717 to 1.000), χ2= 3.864, p= 0.0493); ht3 (rs9652059T-rs11616018T): OR (95% CI) = 1.440 (0.999 to 2.076), χ2 = 3.849, p = 0.0498).ConclusionsOur findings suggest that rs9652059 variation (C→T) could increase AS susceptibility and haplotypes of rs9652059C-rs4964879G, rs9652059C-rs11616018T and rs9652059T-rs11616018T may be associatd with AS.© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

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