Association of FOXO3a gene polymorphisms and ankylosing spondylitis susceptibility in Eastern Chinese Han population

Shanshan Xu; Zhipeng Pan; Li Huang; Yuting Chen; Huimin Xie; Feier Wang; Tingting Zhou; Lingxiang Yu; Jiangpiang Kong; Shengqian Xu; Faming Pan

doi:10.1016/j.gene.2021.145832

Association of FOXO3a gene polymorphisms and ankylosing spondylitis susceptibility in Eastern Chinese Han population

Gene. 2021 Oct 20:800:145832. doi: 10.1016/j.gene.2021.145832. Epub 2021 Jul 16.

Authors

Affiliations

¹ Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, 81 Meishan Road, Hefei, Anhui 230032, China; The Key Laboratory of Major Autoimmune Diseases, Anhui Medical University, 81 Meishan Road, Hefei, Anhui 230032, China.
² Department of Medical Oncology, the First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230022, China.
³ Anhui Medical College, 387 Wuhu Road, Hefei, Anhui 230032, China.
⁴ Department of Rheumatism and Immunity, the First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230022, China.
⁵ Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, 81 Meishan Road, Hefei, Anhui 230032, China; The Key Laboratory of Major Autoimmune Diseases, Anhui Medical University, 81 Meishan Road, Hefei, Anhui 230032, China. Electronic address: famingpan@ahmu.edu.cn.

PMID: 34274476
DOI: 10.1016/j.gene.2021.145832

Abstract

Objective: To investigate the association of FOXO3a polymorphisms and ankylosing spondylitis (AS) susceptibility in Eastern Chinese Han population.

Methods: FOXO3a polymorphisms rs12206094, rs12212067, rs2253310, rs3800232, and rs4946933 were genotyped in 650 AS patients and 646 controls by the improved Multiple Ligase Detection Reaction.

Results: The distribution of genotype in rs12212067 polymorphism was significantly different between AS patients and controls (P = 0.020), especially in male population (P = 0.009). There was significant difference of the genotype frequency distribution at rs3800232 between patients and controls in male population. The results of binary regression analysis showed that the rs12212067 GG genotype and rs3800232 TT genotype were obviously correlated with elevated AS risk, and the associations were still significant after being adjusted by age and gender (all P < 0.05). Interestingly, rs12212067 and rs3800232 genotypes were associated with disease activity of patients. Additionally, haplotype block rs12212067^G- rs3800232^T (OR = 1.403, 95%CI = 1.011-1.949) was further shown to confer promoting effect on developing AS.

Conclusion: Among Eastern Chinese Han population, FOXO3a polymorphism rs12212067 and rs3800232 may contribute to increased risk of developing AS, but well-designed multicenter studies are needed to further confirm these preliminary findings in the future.

Keywords: Ankylosing spondylitis; FOXO3a; Gene; Molecular epidemiology; Polymorphisms.

MeSH terms

Adult
Asian People / genetics
Case-Control Studies
Female
Forkhead Box Protein O3 / genetics*
Gene Frequency
Genetic Predisposition to Disease
Haplotypes
Humans
Linkage Disequilibrium
Male
Polymorphism, Single Nucleotide*
Spondylitis, Ankylosing / etiology
Spondylitis, Ankylosing / genetics*

Substances

FOXO3 protein, human
Forkhead Box Protein O3