Yan Aijuan, Cai Gaoyu, Fu Ningzhen, Feng Yulan, Sun Jialan, Maimaiti Yiming, Zhou Weijun, Fu Yi
1Department of Neurology & Institute of Neurology, and.
3Department of Neurology, Minhang Central Hospital, Shanghai 201100, China.
Aging Dis. 2016 Oct 1;7(5):593-603. doi: 10.14336/AD.2016.0201. eCollection 2016 Oct.
Recent research on genome-wide associations has implicated that the serum resistin level and its gene polymorphism are associated with cerebral infarction (CI) morbidity and prognosis, and could thereby regulate CI. This study aimed to investigate the association between the resistin single nucleotide polymorphism (SNP) and the susceptibility to CI in the Chinese Han population. A total of 550 CI patients and 313 healthy controls were genotyped. Nine SNPs of the resistin gene previously shown were sequenced and assessed for an association with CI. The numbers of GG genotype carriers of rs3219175 and rs3486119 in the CI group were significantly higher than those in the control group among the middle-aged group (aged 45-65), at 76% vs 67.9% (=0.025) and 75.5% vs 67.9% (=0.031). rs3219175 and rs34861192 were associated with CI in the dominant and superdominant models according to the genetic model analysis (<0.05). Meanwhile, there was strong linkage disequilibrium among the rs34124816, rs3219175, rs34861192, rs1862513, rs3745367, 180C/G and rs3745369 sites. In a haplotype analysis, the occurrence rate of the haplotype AGGCAGC was 1.97 times (<0.05) higher in the patient group than in the control group. In addition, the numbers of GG genotype carriers of rs3219175 and rs3486119 in the middle-aged male CI patients and the middle-aged small artery occlusion (SAO) CI patients were higher than those in the control group (<0.05). In the Chinese Han middle-aged population, the GG gene type carriers of the resistin gene sites rs3219175 and rs34861192 had a high risk for CI onset, especially in middle-aged male patients and SAO CI in all middle-aged patients.
近期关于全基因组关联研究表明，血清抵抗素水平及其基因多态性与脑梗死（CI）的发病及预后相关，进而可能对CI起到调控作用。本研究旨在探讨中国汉族人群中抵抗素单核苷酸多态性（SNP）与CI易感性之间的关联。对550例CI患者和313名健康对照者进行基因分型。对先前报道的抵抗素基因的9个SNP进行测序，并评估其与CI的关联。在中年组（45 - 65岁）中，CI组中rs3219175和rs3486119的GG基因型携带者数量显著高于对照组，分别为76% 对67.9%（=0.025）和75.5% 对67.9%（=0.031）。根据遗传模型分析，rs3219175和rs34861192在显性和超显性模型中与CI相关（<0.05）。同时，rs34124816、rs3219175、rs34861192、rs1862513、rs3745367、180C/G和rs3745369位点之间存在强连锁不平衡。单倍型分析显示，患者组中AGGCAGC单倍型的发生率比对照组高1.97倍（<0.05）。此外，中年男性CI患者和中年小动脉闭塞（SAO）CI患者中rs3219175和rs3486119的GG基因型携带者数量高于对照组（<0.05）。在中国汉族中年人群中，抵抗素基因位点rs3219175和rs34861192的GG基因型携带者发生CI的风险较高，尤其是中年男性患者以及所有中年患者中的SAO CI。
