陶文玉,李传印,杨莹,杨曼,王晓苓,角铭,何思琦,洪超,李奕平
TAO Wenyu,LI Chuanyin,YANG Ying,YANG Man,WANG Xiaoling,JIAO Ming,HE Siqi,Hong Chao,LI Yiping

• 1:云南省第二人民医院&昆明医科大学第四附属医院内分泌代谢科
• 2:中国医学科学院&北京协和医学院医学生物学研究所

摘要(Abstract)：

目的:探讨两个长链非编码RNA(lncRNA)基因(PROX1-AS1和PRICKLE2-AS1)中的单核苷酸多态性位点(SNP)与中国汉族人群2型糖尿病(T2DM)的相关性。方法:随机选取784名T2DM患者作为T2DM组,846名非糖尿病个体作为对照组;采用质谱法对lncRNA基因PROX1-AS1和PRICKLE2-AS1基因中的多态性位点rs2075423和rs12497268进行基因分型,并分析其与中国汉族人群T2DM的相关性。结果:结果显示PROX1-AS1基因中的多态性位点rs2075423等位基因在T2DM组和对照组中的分布频率差异有统计学意义,该位点等位基因G可能是T2DM的风险性因素(P<0001,OR=1394,95%CI为1153～1686),而PRICKLE2-AS1基因中的多态性位点rs12497268的基因型频率及等位基因频率在T2DM组和对照组中分布频率的差异无统计学意义(P>005);共显性遗传模式的分析结果显示,PROX1-AS1基因中多态性位点rs2075423基因型G/G相对于基因型G/T+T/T来说可能是T2DM发生的风险因素(P<0001,OR=1488,95%CI为1197～1851);PRICKLE2-AS1基因中多态性位点rs12497268基因型G/G相对于基因型G/C+C/C来说可能是T2DM发生的风险因素(P=0027,OR=1260,95%CI为1027～1545)。结论:PROX1-AS1和PRICKLE2-AS1基因中的多态性位点rs2075423和rs12497268可能与中国汉族人群T2DM发病风险相关。
Objective: To investigate the correlation of single nucleotide polymorphisms( SNPs)(rs2075423 and rs12497268) in two long non-coding RNA( lncRNA) genes(PROX1-AS1 andPRICKLE2-AS1) with Type 2 diabetes(T2 DM) in Chinese Han population.Methods: 784 patientswith T2 DM and 846 subjects without diabetes mellitus were divided into T2 DM group and control grouprespectively. rs2075423 inPROX1-AS1 gene and rs12497268 inPRICKLE2-AS1 gene were genotypedby the Mass Apectrometry. Then, their correlation with T2 DM was analyzed.Results: The results showed that the distribution frequency difference of polymorphic site rs2075423 allele ofPROX1-AS1 gene in T2 DM group and control group were statistically significant, G allele of rs2075423 inPROX1-AS1 gene might be the risk factor of T2 DM(P< 0.001,OR= 1.394; 95% CI:1. 153 ～ 1. 686).While the allelic and genotypic frequency of rs12497268 inPRICKLE2-AS1 gene showed no significantdifference between T2 DM and control groups(P> 0. 05). Moreover, the codominant inheritancepattern analysis showed that G/G genotype of rs2075423 might be the risk factor of T2 DM comparedwith G/T + T/T genotype(P< 0.001,OR= 1.488; 95% CI: 1. 197 ～ 1. 851). Similarly, G/Ggenotype of rs12497268 might be the risk factor of T2 DM(P= 0.027,OR= 1.260; 95% CI: 1. 027～ 1. 545) compared with G/C + C/C genotype.Conclusion: Results revealed the two lncRNA SNPs(rs2075423 inPROX1-AS1 gene and rs12497268 inPRICKLE2-AS1 gene) may be correlated withT2 DM recurrence risk in Chinese Han population.

关键词(KeyWords)： 糖尿病,2型;基因型;多态性,单核苷酸;遗传相关性研究;长链非编码RNA
diabetes mellitus,type 2;genotype;polymorphism,single nucleotide;genetic association studies;long non-coding RNA

Abstract:

Keywords:

基金项目(Foundation): 国家自然科学基金项目（31660313）;; 云南省科技厅-昆明医科大学应用基础研究联合专项[2019FE001(-092)和2013FB181];; 云南省中青年学术带头人后备人才项目（2018HB047）;; 云南省高层次卫生计生技术人才培养项目(D-2017040)

作者(Author): 陶文玉,李传印,杨莹,杨曼,王晓苓,角铭,何思琦,洪超,李奕平
TAO Wenyu,LI Chuanyin,YANG Ying,YANG Man,WANG Xiaoling,JIAO Ming,HE Siqi,Hong Chao,LI Yiping

DOI: 10.19367/j.cnki.1000-2707.2020.02.008

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