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AQP7和AQP9基因多态性与中国汉族人群2型糖尿病的相关性研究CSCD
引用本文:何思琦,杨曼,杨莹,王飞英,王晓苓,卢廷莲,角铭,李奕平. AQP7和AQP9基因多态性与中国汉族人群2型糖尿病的相关性研究CSCD[J]. 中华医学遗传学杂志, 2022, 0(2): 234-239
作者姓名:何思琦  杨曼  杨莹  王飞英  王晓苓  卢廷莲  角铭  李奕平
作者单位:1.云南大学附属医院/云南省第二人民医院内分泌科650021;2.大理大学671000;3.云南省急救中心650106;
基金项目:云南省科技厅-昆明医科大学应用基础研究联合专项(2019FE001-092);国家自然科学基金(31660313,81760734);云南省中青年学术和技术带头人后备人才项目(2018HB047);云南省医学学科带头人项目(D-2017040);云南省第二人民医院糖尿病血管病变预防及诊疗省创新团队(2019HC002);云南省第二人民医院内分泌与代谢疾病临床医学中心项目(ZX2019-02-02)。
摘    要:目的探讨水通道蛋白7(aquaporin 7, AQP7)以及水通道蛋白9(aquaporin 9, AQP9)基因单核苷酸多态性(single nucleotide polymorphism, SNP)与中国汉族人群患2型糖尿病(type 2 diabetes mellitus, T2DM)的相关性。方法随机纳入1194例T2DM个体和1274例非糖尿病个体(non-diabetic, NDM)进行对照研究, 采用MassArray质谱基因分型方法对3个SNP位点(AQP7基因rs3758269、AQP9基因rs16939881和rs57139208)进行基因分型。评估以上3个SNP位点与T2DM的相关性;探讨NDM组SNP位点处不同基因型与糖脂代谢指标的关联。结果 AQP7基因rs3758269、AQP9基因rs16939881和rs57139208的等位基因频率及基因型频率在T2DM组和NDM组中的分布无统计学差异(P > 0.05);且分析结果显示不同遗传模式与T2DM无相关性(P > 0.05)。在NDM组中, AQP7基因rs3758269、AQP9基因rs16939881和rs57139208的不同基因型与糖脂代谢指标无相关性(P > 0.05)。结论 AQP7基因rs3758269和AQP9基因rs16939881和rs57139208与中国汉族人群T2DM遗传易感性无关。

关 键 词:2型糖尿病  AQP7基因  AQP9基因  单核苷酸多态性  相关性

Association study of single nucleotide polymorphisms of AQP7 and AQP9 genes with type 2 diabetes mellitus among ethnic Han Chinese populationCSCD
Affiliation:1.Department of Endocrinology and Metabolism, Affiliated Hospital of Yunnan University, Second People's Hospital of Yunnan Province, Yunnan, Dali, Kunming650021;2.Dali University, Yunnan671000;3.Emergency Medical Center of Yunnan Province, Yunnan, Kunming650106;
Abstract:Objective To assess the association of single nucleotide polymorphisms (SNP) of aquaporin 7 ( AQP7) and aquaporin 9 ( AQP9) genes and type 2 diabetes mellitus (T2DM) among ethnic Han Chinese population. Methods A case-control study involving 1194 subjects with T2DM and 1274 non-diabetic mellitus (NDM) subjects were enrolled. Genotypes of three SNPs (rs3758269 of AQP7 gene, rs16939881 and rs57139208 of AQP9 gene) were determined by using a MassArray method. The association of the three SNPs with T2DM was assessed, and the correlation of glucose and lipid metabolism parameters with various SNP genotypes in the NDM group was analyzed. Results The allelic and genotypic frequencies of the three SNPs did not differ significantly between the two groups (P > 0.05). Nor was there significant difference between the two groups with different genetic models (P > 0.05). No significant association of genotypes of AQP7 gene rs3758269, AQP9 gene rs16939881 and rs57139208 with glucose and lipid metabolism parameters were observed in the NDM group (P > 0.05). Conclusion The rs3758269 in AQP7 gene and rs16939881 and rs57139208 in AQP9 gene are not associated with the genetic susceptibility of T2DM among ethnic Han Chinese population. © 2022 West China University of Medical Sciences. All rights reserved.
Keywords:AQP7  gene  AQP9  Association study  Single nucleotide polymorphism  Type 2 diabetes mellitus
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