lncRNA GAS5基因多态性与多囊卵巢综合征发病风险的相关性研究  

Correlation between genetic polymorphism of lncRNA GAS5 and risk of polycystic ovary syndrome

作　　者：陆玉兰[1] 庞晓霞[2] 陈兴鸿 韦玉霞 刘纯宏 LU Yulan;PANG Xiaoxia;CHE Xinghong;WEI Yuxia;LIU Chunhong(Reproductive Medicine Center,Affiliated Hospital of Youjiang Medical University for Nationalities,Baise 533000,China;Department of Clinical Laboratory,Affiliated Hospital of Youjiang Medical University for Nationalities,Baise 533000,Chi-na;Key Laboratory of Research on Clinical Molecular Diagnosis for High Incidence Diseases in Western Guangxi of Guangxi Higher Education Institutions,Affiliated Hospital of Youjiang Medical University for Nationalities,Baise 533000,China)

机构地区：[1]右江民族医学院附属医院生殖医学中心,广西百色533000 [2]右江民族医学院附属医院检验科,广西百色533000 [3]右江民族医学院附属医院,广西高校桂西高发病临床分子诊断研究重点实验室,广西百色533000

出　　处：《中国病理生理杂志》2025年第2期348-353,共6页Chinese Journal of Pathophysiology

基　　金：广西高校中青年教师科研基础能力提升项目(No.2022KY0553,No.2023KY0555);百色市科技开发计划(No.20212334,No.20212321,No.20213228);右江民族医学院附属医院科研项目(No.Y20212604)。

摘　　要：目的:研究长链非编码RNA(lncRNA)生长阻滞特异性转录物5(GAS5)基因多态性与多囊卵巢综合征(PCOS)发病的关联性。方法:选取2018年5月~2019年5月在广西右江民族医学院附属医院生殖医学中心确诊的236例PCOS患者作为病例组,同时选取同期性别、年龄相匹配的277例健康女性作为对照组,采用iMLDR单核苷酸多态性(SNP)分型方法检测GAS5基因rs145204276 I/D、rs55829688 C/T和rs6790 G/A位点基因型。采用logistic回归分析GAS5基因多态性与PCOS的相关性。结果:GAS5基因rs145204276 I/D位点多态性在对照组和PCOS组之间差异有统计学意义,logistic回归分析结果显示,与I/I基因型相比,I/D和D/D基因型以及显性模型I/D+D/D具有较低的PCOS发病风险[I/D vs I/I:OR(95%CI)=0.61(0.42,0.88),P=0.009;D/D vs I/I:OR(95%CI)=0.44(0.23,0.84),P=0.013;I/D+D/D vs I/I:OR(95%CI)=0.57(0.40,0.81),P=0.002];与I等位基因相比,D等位基因显著降低PCOS的发病风险[D vs I:OR(95%CI)=0.62(0.47,0.82),P=0.001]。rs55829688 C/T和rs6790 G/A位点多态性在对照组和PCOS组之间比较差异均无统计学意义(P>0.05)。单倍型联合分析显示D-T-A单倍型在对照组和PCOS组间的分布差异有统计学意义[OR(95%CI)=0.61(0.45,0.84),P=0.002]。结论:GAS5基因rs145204276 I/D位点多态性可能与PCOS遗传易感性相关,即携带D等位基因的个体可能具有较低的PCOS发病风险。AIM:To investigate the association between long noncoding RNA(lncRNA)growth arrest-specific transcript 5(GAS5)genetic polymorphism and the onset of polycystic ovary syndrome(PCOS).METHODS:The casecontrol study was performed,selecting 236 PCOS patients diagnosed at the Reproductive Medicine Center of the Affiliated Hospital of Guangxi Youjiang University for Nationalities from May 2018 to May 2019 as the case group,while 277 healthy women matched in sex and age during the same period were selected as the control group.The iMLDR single nucleotide polymorphism(SNP)was used to detected the genotypes of rs145204276 I/D,rs55829688 C/T and rs6790 G/A in GAS5 gene.The correlation between GAS5 gene polymorphism and PCOS was analyzed using logistic regression.RESULTS:The difference of GAS5 gene rs145204276 I/D polymorphism had statistical significance between control group and PCOS group.Logistic regression analysis showed that compared with the I/I genotype,the I/D and D/D genotypes,as well as the dominant model I/D+D/D,had a reduced risk of PCOS[I/D vs I:OR(95%CI)=0.61(0.42,0.88),P=0.009;D vs I/I:OR(95%CI)=0.44(0.23,0.84),P=0.013;I/D+D vs I/I:OR(95%CI)=0.57(0.40,0.81),P=0.002].Compared with the I allele,the D allele significantly reduced the risk of PCOS[D vs I:OR(95%CI)=0.62(0.47,0.82),P=0.001).There was no statistically significant difference in the polymorphism of rs55829688 C/T and rs6790 G/A between control group and PCOS group(P>0.05).The combined analysis of haplotypes showed that the difference of D-T-A haplo-type distribution was statistically significant between control group and PCOS group[OR(95%CI)=0.61(0.45,0.84),P=0.002].CONCLUSION:The polymorphism of GAS5 gene rs145204276 I/D may be associated with genetic suscepti-bility to PCOS,and individuals carrying the D allele may have a reduced risk of developing PCOS.

关 键 词：多囊卵巢综合征 单核苷酸多态性 长链非编码RNA 生长阻滞特异性转录物5 

分 类 号：R394.3[医药卫生—医学遗传学] R363[医药卫生—基础医学] R711.75