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MUTYH和ORAI1基因多态性与中国汉族人群骨关节炎易感性相关。

MUTYH and ORAI1 polymorphisms are associated with susceptibility to osteoarthritis in the Chinese Han population.

作者信息

Zhang Shifeng, Guo Haohui, Chen Da, Chen Xi, Jin Qunhua

机构信息

Department of Orthopaedics, General Hospital of Ningxia Medical University, Yinchuan, Ningxia, China.

出版信息

J Int Med Res. 2018 Jun;46(6):2292-2300. doi: 10.1177/0300060518762988. Epub 2018 Mar 27.

Abstract

Background This study analyzed the associations between single nucleotide polymorphisms (SNPs) in the mutY homolog gene ( MUTYH) and the calcium release-activated calcium channel gene ( ORAI1) with susceptibility to osteoarthritis in the Chinese Han population. Methods A total of 350 patients diagnosed with osteoarthritis from October 2013 to May 2016 were selected as the study group, together with 350 age- and gender-matched healthy controls. MUTYH SNP rs3219463 and ORAI1 SNPs rs712853, rs12313273, rs6486795, rs12320939, and rs7135617 were analyzed by Sanger sequencing. Serum MUTYH levels were measured by enzyme-linked immunosorbent assay. The relationship between SNPs in MUTYH and ORAI1 and osteoarthritis susceptibility was analyzed and compared with the level of serum MUTYH in the osteoarthritis and control groups. Results MUTYH rs3219463 G allele carriers (GG or GA genotypes) and ORAI1 rs7135617 T allele carriers had a higher risk of osteoarthritis than patients with other genotypes. The level of serum MUTYH in the study group was significantly higher than in the control group (22.05 ± 19.14 ng/mL vs. 14.15 ± 13.54 ng/mL). Conclusions MUTYH and ORAI1 SNPs are associated with osteoarthritis susceptibility in the Chinese Han population.

摘要

背景 本研究分析了mutY同源基因(MUTYH)和钙释放激活钙通道基因(ORAI1)中的单核苷酸多态性(SNP)与中国汉族人群骨关节炎易感性之间的关联。方法 选取2013年10月至2016年5月期间诊断为骨关节炎的350例患者作为研究组,同时选取350例年龄和性别匹配的健康对照。通过桑格测序分析MUTYH SNP rs3219463和ORAI1 SNPs rs712853、rs12313273、rs6486795、rs12320939以及rs7135617。采用酶联免疫吸附测定法测量血清MUTYH水平。分析MUTYH和ORAI1中的SNP与骨关节炎易感性之间的关系,并与骨关节炎组和对照组的血清MUTYH水平进行比较。结果 MUTYH rs3219463 G等位基因携带者(GG或GA基因型)和ORAI1 rs7135617 T等位基因携带者患骨关节炎的风险高于其他基因型患者。研究组的血清MUTYH水平显著高于对照组(22.05±19.14 ng/mL对14.15±13.54 ng/mL)。结论 MUTYH和ORAI1 SNPs与中国汉族人群的骨关节炎易感性相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54b6/6023038/141b0072dd43/10.1177_0300060518762988-fig1.jpg

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