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.
Department of Medical Oncology, the First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230022, China.
Gene. 2021 Oct 20;800:145832. doi: 10.1016/j.gene.2021.145832. Epub 2021 Jul 16.
To investigate the association of FOXO3a polymorphisms and ankylosing spondylitis (AS) susceptibility in Eastern Chinese Han population.
FOXO3a polymorphisms rs12206094, rs12212067, rs2253310, rs3800232, and rs4946933 were genotyped in 650 AS patients and 646 controls by the improved Multiple Ligase Detection Reaction.
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- rs3800232 (OR = 1.403, 95%CI = 1.011-1.949) was further shown to confer promoting effect on developing AS.
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.
探究 FOXO3a 多态性与中国东部汉族人群强直性脊柱炎（AS）易感性的关系。
采用改良多重连接酶检测反应技术，对 650 例 AS 患者和 646 例对照者的 FOXO3a 多态性 rs12206094、rs12212067、rs2253310、rs3800232 和 rs4946933 进行基因分型。
rs12212067 多态性的基因型分布在 AS 患者和对照组之间存在显著差异（P=0.020），尤其是在男性人群中（P=0.009）。在男性人群中，rs3800232 基因型频率分布在患者和对照组之间存在显著差异。二元回归分析结果表明，rs12212067 GG 基因型和 rs3800232 TT 基因型与 AS 发病风险显著升高相关，且在调整年龄和性别后仍具有统计学意义（均 P<0.05）。有趣的是，rs12212067 和 rs3800232 基因型与患者的疾病活动度相关。此外，rs12212067-rs3800232 单体型块（OR=1.403，95%CI=1.011-1.949）进一步显示出对 AS 发病的促进作用。
在中国东部汉族人群中，FOXO3a 多态性 rs12212067 和 rs3800232 可能导致 AS 发病风险增加，但需要进一步进行多中心、大样本研究来验证这些初步发现。
