TCF7L2基因单核苷酸多态性与汉族2型糖尿病遗传易感性关系的研究

目的探讨TCF7L2基因单核苷酸多态性与汉族人2型糖尿病遗传易感性的关系。方法无血缘关系江苏地区汉族人1535例,分为2型糖尿病组（T2DM）、糖耐量减低组（IGT）和正常糖耐量组（NGT）,LDR法检测TCF7L2基因rs7903146（C／T）及rs12255372（G／T）单核苷酸多态性。结果（1）T2DM、IGT组rs7903146位点T等位基因频率均高于NGT组,但差异无统计学意义;（2）糖代谢异常组rs7903146位点CT基因型频率及T等位基因频率则显著高于NGT组（P均〈0．05）,T等位基因参与糖代谢异常发生的相对风险为1．589,人群归因危险度为2．1％。结论TCF7L2基因单核苷酸多态分布存在明显的种族异质性,rs7903146位点T突变可能是中国汉族人群糖代谢异常发生的遗传因素之一。     

广东汉族人群PPARGC1A基因rs6821591和rs2970847位点单核苷酸多态性与2型糖尿病遗传易感性的关联研究

目的探讨T2DM遗传易感性与广东汉族人群PPARGC1A基因rs6821591和rs2970847位点单核苷酸多态性(SNP)的关联。方法采用病例对照设计,运用SNPscanTM分型技术检测T2DM组和正常对照组(NC)PPARGC1A基因rs6821591和rs2970847位点的基因型,比较两组基因型及等位基因频率分布。结果 NC、T2DM组rs6821591位点T、C等位基因频率分别为67.31%、32.69%/67.57%、32.43%,rs2970847为23.91%、76.09%/23.95%、76.05%,两组双位点等位基因频率分布及TT/CT/CC基因型频率分布比较,差异无统计学意义(P0.05)。调整协变量前后,两组rs6821591和rs2970847位点的隐性、显性、共显性及超显性遗传模型比较,差异无统计学意义(P0.05)。结论T2DM遗传易感性可能与广东汉族人群PPARGC1A基因rs6821591和rs2970847位点SNP无明显关联。     

7个单核苷酸位点多态性与2型糖尿病风险因素的相关性研究

目的探讨7个单核苷酸多态性位点(SNP)与T2DM的关系。方法采用高分辨熔解曲线(HRM)检测T2DM组202例和健康对照(NC)组200名的7个易感基因位点,分析这些易感基因位点多态性与T2DM的相关性。结果两组rs8050136、rs13266634、rs7578597、rs864745和rs7961581位点基因型和等位基因频率分布比较差异有统计学意义(P<0.05或P<0.01),rs8050136、rs13266634、rs7578597和rs864745位点OR>1,rs7961581位点OR<1。两组rs10811661、rs10923931位点基因型和等位基因频率分布比较差异无统计学意义,OR均接近于1。结论 rs8050136、rs13266634、rs7578597和rs864745位点多态性与我国汉族人群T2DM发病风险相关,rs10811661、rs10923931位点多态性与我国汉族人群T2DM发病风险无相关性,rs7961581位点多态性对我国汉族人群T2DM可能起保护作用。     

PRKAA2基因rs2051040多态性与东乡族2型糖尿病、脂代谢及体质指数关系的研究

目的探讨PRKAA2基因rs2051040多态性与东乡族T2DM发病风险及脂代谢的关系。方法运用高效变性液相色谱技术检测218名东乡族人群中PRKAA2基因rs2051040多态性,其中T2DM患者(T2DM组)104例,健康者(NC组)114名。分析该多态性位点基因型及等位基因频率与T2DM的关系,比较不同基因型间生化指标的差异。结果 rs2051040多态性位点的基因型和等位基因频率两组间差异无统计学意义,但T2DM组rs2051040多态性与HDL-C及BMI相关。结论 rs2051040多态性位点与东乡族T2DM发生无相关性,但与T2DM患者血脂和BMI相关。     

2型糖尿病患者内脂素基因位点rs61330082、rs4730153多态性的研究

目的 探讨内脂素基因位点rs61330082、rs4730153多态性与T2DM的相关性。方法利用SNPscanTM高通量单核苷酸多态性分型技术,对346例确诊T2DM患者(T2DM组)及1426名非T2DM对照人群(NC组)的内脂素基因位点rs61330082、rs4730153进行基因分型。Logistic回归分析T2DM的影响因素,受试者工作特征(ROC)曲线分析内脂素基因位点rs61330082、rs4730153对T2DM的诊断价值。结果 T2DM组女性比例、年龄、肥胖、吸烟史、高血压、FPG、HbA₁c、TG高于NC组(P<0.01),HDL-C低于NC组(P<0.01)。与NC组比较,T2DM组G等位基因和GG基因型频率升高(P<0.05)。Logistic回归分析显示,年龄、女性、肥胖、高血压、TG、rs4730153位点GG基因型是T2DM的危险因素,HDL-C是T2DM的保护因素。ROC曲线分析显示,曲线下面积为0.668,最佳切点值为20.04%,敏感度60.1%,特异度66.1%。结论 内脂素基因位点rs4730153突变...     

SLC30 A8基因rs13266634多态性与甘肃汉族、回族2型糖尿病的相关性

目的探讨SLC30A8基因rs13266634单核苷酸多态性(SNP)在甘肃汉族、回族人群中的分布及其与2型糖尿病(T2DM)的关系。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测汉族和回族T2DM组和对照组SLC30A8基因的基因型,同时进行人体测量学及临床指标的检测,分别采用稳态模型评估胰岛素抵抗指数(HOMA-IR)和胰岛!细胞分泌功能指数(HOMA-!)评估胰岛素抵抗(IR)和胰岛!细胞功能。结果 SLC30A8基因的基因型CC、CT和TT频率在汉族、回族T2DM组和对照组之间比较有差异(P均0.05);等位基因C、T频率在汉族、回族T2DM组和对照组之间比较亦有差异(P均0.05)。汉族C等位基因患T2DM的风险是T等位基因的1.54倍(OR=1.54,95%CI 1.09~2.16);回族C等位基因患T2DM的风险是T等位基因的1.56倍(OR=1.56,95%CI 1.09~2.22)。结论 SLC30A8基因rs13266634多态性与甘肃汉族、回族T2DM的发病相关,C等位基因可能是T2DM发病的易感基因之一。     

PKBα/Akt1基因多态性与2型糖尿病的相关性研究

目的 研究蛋白激酶B α亚型(PKBα,也称Akt1)基因单核苷酸多态性(SNP)与上海地区汉族人群2型糖尿病易感性的关系.方法 利用等位基因特异PCR技术对460例2型糖尿病患者及444名正常对照者(NC组)Akt1基因3个标签SNP位点rs2494743、rs2494738和rs3001371进行基因分型.结果 位点rs2494738和rs3001371的基因型分布在糖尿病组和NC组之间呈现显著性差异(均P＜0.01);rs2494738和rs3001371等位基因频率在2型糖尿病组和NC组的分布也呈现显著性差异(均P＜0.01);rs2494738的多态性与2型糖尿病发生风险呈等位基因计量效应关系.但rs2494743基因型和等位基因分布在NC组与2型糖尿病组中差异无统计学意义.单倍型分析结果显示3个单倍型频率在2型糖尿病组和NC组之间也存在显著差异(均P＜0.01).结论 在上海地区的汉族人群中,Akt1基因可能是2型糖尿病的易感基因之一;其SNP位点rs2494738和rs3001371变异可能与2型糖尿病发病相关.     

KATP通道基因多态性与2型糖尿病及磺脲类药物疗效的相关性

目的 探讨ATP敏感性钾(KATP)通道基因ABCC8、KCNJ11单核苷酸多态性(SNPs)与山东汉族2型糖尿病(T2DM)遗传易感性的关系,并观察与磺脲类药物疗效的相关性.方法 选取山东济宁地区的正常对照组(NC组)100例,T2DM组200例,并将T2DM组分为磺脲类继发失效(SFS)组86例,有效组114例,运用ABI SNaPshot技术(ABI Biosystem,USA)对ABCC8、KCNJ11基因上2个典型的SNPs进行基因分型.结果 (1) ABCC8基因rs1799854在NC组和T2DM组等位基因频率及基因型构成差异有统计学意义(P＜0.05),T2DM组危险等位基因t显著高于NC组(P＜0.05);KCNJ11基因rs5219在NC组和T2DM组等位基因频率及基因型构成差异无统计学意义(P＞0.05).(2)在200例服用磺脲类降糖药物的T2DM患者中,仅发现ABCC8基因rs1799854在磺脲类继发失效组及有效组等位基因频率及基因型构成差异有统计学意义(P＜0.05),且“t”等位基因的频率在失效组人群中显著增高(P＜0.05).结论 ABCC8基因rs1799854 t/t多态性可能显著增加山东汉族人群T2DM遗传易感性,并且可能与SFS相关;KCNJ11基因rs5219可能与山东地区T2DM遗传易感性及磺脲类药物疗效无关.     

转录因子7类似物2基因rs11196205多态性与安徽地区2型糖尿病及糖调节受损的相关性

目的 探讨转录因子7类似物2(TCF7L2)基因rs11196205位点多态性在安徽地区汉族人群中与2型糖尿病(T2DM)和糖调节受损(IGR)的相关性.方法 选取2009年1月至8月于安徽医科大学第一附属医院就诊的2型糖尿病患者300例、糖调节受损患者300例和糖耐量正常对照者(NGT)300名,收集临床资料和采集血样,测定生化指标并提取DNA;探针固定于芯片,PCR制备荧光标记靶基因与芯片杂交,扫描杂交结果;采用单因素方差分析及K-W检验统计分析rs11196205突变等位基因和基因型频率与T2DM及IGR发病的关系.结果 TCF7L2基因rs11196205位点等位基因频率[C在T2DM、IGR、NGT组频率分别为21%(126/600)、19%(114/600)、11%(68/600)]和基因型频率[GC+CC在T2DM、IGR、NGT组频率分别为41%(122/300)、37%(111/300)、22%(67/300)].T2DM与NGT、IGR与NGT、T2DM+IGR与NGT 3组比较差异均有统计学意义(P<0.05).携带突变等位基因C可增加罹患T2DM(OR=2.08,95%C1=1.51～2.86,X2=20.68,P<0.05)、IGR(OR=1.84,95%CI=1.33～2.54,X2=13.71,P<0.05)或任何一种(OR=1.96,95%CI=1.46～2.61,X2=21.18,P<0.05)的风险.与野生纯合基因型GG比较,体内携带一个以上突变基因C复本可增加罹患T2DM(OR:2.38,95%CI=1.67～3.40,X2=23.37,P<0.05)、IGR(OR=2.04,95%CI=1.43～2.92,X2=15.46,P<0.05)或任何一种(OR=2.21,95%CI=1.61～3.03,X2=24.50,P<0.05)的风险.结论 rs11196205位点G→C突变在安徽地区汉族人群中可能与T2DM和IGR关联,携带突变等位基因C可显著增加罹患T2DM和IGR的风险.     

广西壮族人群TLR2基因rs2289318G/C和rs3804100T/C的多态性研究

［摘要］　目的　探讨广西壮族人群Toll样受体2(TLR2)基因rs2289318G/C和rs3804100T/C多态性,比较其与不同地区及种族的分布差异。方法　采用单碱基延伸技术和DNA测序法对210名广西壮族健康体检者的TLR2基因rs2289318G/C和rs3804100T/C进行基因分型,分析其基因多态性,并与千人基因组计划数据库公布的美国西南部非洲裔(ASW)、巴巴多斯的加勒比非洲裔(ACB)、尼日利亚伊巴丹的约鲁巴人(YRI)、美国人（AMR）、日本东京的日本人(JPT)、欧洲人(EUR)、南亚人(SAS)、中国北京的汉族人(CHB)的基因型进行比较。结果　广西壮族人群TLR2基因rs2289318G/C位点存在GG、CG和CC基因型,其频率分别为58.57%、37.62%和3.81%;G和C等位基因频率分别为77.38%和22.62%。rs3804100T/C位点存在TT、CT和CC基因型,其频率分别为57.62%、38.10%和4.29%;T和C等位基因频率分别为76.67%和23.33%。在广西壮族人群中,TLR2基因rs2289318G/C和rs3804100T/C位点的基因型和等位基因频率在不同性别间比较差异均无统计学意义(P>0.05)。广西壮族人群rs2289318G/C等位基因与SAS比较差异有统计学意义(P<0.05),但其基因型与SAS比较差异无统计学意义（P>0.05）;rs2289318G/C等位基因及等位基因频率与ACB、ASW、YRI、AMR、JPT、EUR、CHB比较差异均无统计学意义(P>0.05)。广西壮族人群rs3804100T/C位点的基因型及等位基因频率与ACB、ASW、YRI、AMR、EUR、SAS、CHB比较差异均有统计学意义(P<0.05),而与JPT比较差异无统计学意义(P>0.05)。结论　广西壮族人群TLR2基因rs2289318G/C、rs3804100T/C多态性与不同种族人群比较存在差异。     

The relationship between the CYP19 alleles rs727479A/C,rs700518A/G,and rs700519C/T and pregnancy outcome after assisted reproductive technology in patients with polycystic ovary syndrome in a Chinese population: A population-based study

This study investigated the relationship between the CYP19 alleles, rs727479A/C, rs700518A/G, and rs700519C/T, and pregnancy outcome after assisted reproductive technology (ART) in patients with polycystic ovary syndrome (PCOS). Between January 2012 and September 2015, 293 PCOS patients undergoing ART were randomly selected for the study. According to pregnancy outcome after ART, the patients were assigned to pregnancy and non-pregnancy groups. CYP19 rs727479A/C, rs700518A/G and rs700519C/T genotypes were determined using the denaturing high-performance liquid chromatography (DHPLC) method. Haplotype frequencies of the CYP19 alleles rs727479A/C, rs700518A/G and rs700519C/T were estimated using the SHEsis platform. Logistic regression analysis was employed to analyze the factors influencing the pregnancy outcome after ART. The frequency of the AC + CC genotype of rs727479A/C was higher in the pregnancy group than in the non-pregnancy group. The frequency of the CT + TT genotype of rs700519A/G was also higher in the pregnancy group than in the non-pregnancy group. Haplotype analysis indicated that the AAC and AGT haplotypes both exhibited unfavorable influence on the pregnancy outcome after ART. The AAT and CGT haplotypes were favorable to the pregnancy outcome after ART. Logistic regression analysis suggested that the rs727479A/C AA genotype, the rs700519C/T CC genotype and body mass index (BMI) might exert unfavorable influence on the pregnancy outcome after ART for PCOS patients. These findings indicated that the CYP19 alleles rs727479A/C and rs700519C/T might be associated with the pregnancy outcome after ART in patients with PCOS.     

Complementary role of vitamin D deficiency and the interleukin-28B rs12979860 C/T polymorphism in predicting antiviral response in chronic hepatitis C

The widely accepted interleukin-28B (IL-28B) rs12979860 C/T polymorphism and the more recently proposed vitamin D serum concentration are two novel predictors of the response to antiviral treatment in chronic hepatitis C virus (HCV) infection. This study aimed to verify whether the IL-28B rs12979860 C/T polymorphism and pretreatment serum vitamin D levels have independent or complementary roles in predicting the rates of sustained viral response (SVR). The present study included 211 consecutive, treatment-na?ve chronic HCV patients who had their pretreatment serum 25-OH vitamin D level and IL-28B rs12979860 C/T genotype determined. Overall, SVR was achieved by 134/211 (63.5%) patients and by 47/110 (42.7%) patients infected with difficult-to-treat HCV genotypes. On multivariate analysis, SVR was predicted by the HCV genotype, the IL-28B rs12979860 C/T polymorphism, and gamma-glutamyl transpeptidase, HCV RNA, cholesterol, and 25-OH vitamin D serum levels, with an area under the receiver operating characteristic (ROC) curve of 0.827. When difficult-to-treat HCV genotypes were analyzed separately, the SVR was predicted by the IL-28B rs12979860 C/T polymorphism, viral load, and serum vitamin D level, with an area under the ROC curve of 0.836. Moreover, by categorizing these latter patients into four groups-C/C homozygotes with vitamin D levels >20 ng/mL (group A) or ≤20 ng/mL (group B) and C/T heterozygotes or T/T homozygotes with vitamin D levels >20 ng/mL (group C) or ≤20 ng/mL (group D)-a significant linear trend was observed, with SVR rates in the following descending order: group A, 18/21 (85.7%); group B, 6/11 (54.5%); group C, 14/38 (36.8%); and group D, 9/40 (22.5%) (P < 0.0001). CONCLUSION: Vitamin D serum levels are complementary to the IL-28B rs12979860 C/T polymorphism in enhancing the correct prediction of the SVR in treatment-na?ve chronic hepatitis C.     

Risk factors of phlegm syndrome in metabolic syndrome:EXT2 gene rs11037909/rs1113132/rs3740878-T allele,BMI and TG

<正>Objective To investigate the effect of single nucleotide polymorphisms (SNPs) of EXT2 gene on the susceptibility of metabolic syndrome (MS) with phlegm syndrome.Methods From November 2013 to December2020,a total of 849 patients with MS who were treated in the Pre Treatment Center and Physical Examination Center of the Third People’s Hospital Affiliated to Fujian University of Traditional Chinese Medicine,and the Endocrine Department of Jinjiang Hospital of Traditional Chinese Medicine A...     

SLC30A8基因rs13266634位点C／T多态性与1型糖尿病易患性的关系——病例对照研究及meta分析

目的评价SLC30A8基因rs13266634位点C／T多态性与1型糖尿病的关系。方法选取2008年9月至2010年11月就诊于江苏省人民医院及其25家合作单位的351例1型糖尿病患者（糖尿病组）,其中男183例,女168例,平均年龄（20±11）岁。同期于江苏省人民医院体检中心选取429名健康志愿者（健康对照组）,其中男201例,女228例,平均年龄（23±4）岁。所有研究对象均行SLC30A8基因rs13266634位点C／T多态性分析。检索Pubmed及中文期刊CNKI数据库,入选有关SLC30A8基因rs13266634位点多态性与1型糖尿病的病例对照研究,进行meta分析。结果病例对照研究表明,糖尿病组与健康对照组SLC30A8rs13266634基因分布频率无显著差异[比值比（OR）为0．96,95％可信区间（95％ CI）=0．79～1．18,P=0．71]。共有5篇文献纳入nleta分析,其中1型糖尿病患者10646例,健康对照者10242名。2组异质性检验,2为0％,异质性检验P值为0．595,无显著异质性,故采用固定效应模型进行数据合并。纳入研究的合并OR值为1．02,95％C／为0．98～1．06,P值为0．38。Begg’s检验中P值为0．155,即纳入研究无发表偏倚。结论病例对照研究及meta分析结果均表明SLC30A8基因rs13266634位点C／T多态性与1型糖尿病易患性无显著关联。