可卡因-安非他明调节转录肽基因与超重、肥胖的关联研究

目的　对可卡因 安非他明调节转录肽 (CART)基因在中国华南地区汉族人多态性情况及其与肥胖的关系进行探讨。方法　本研究用聚合酶链反应 单链构象多态性 (PCR SSCP)的方法 ,对无亲缘关系的正常体重组〔体重指数 (BMI) <2 3kg/m2 者 ,76例〕及BMI≥ 2 3者的超重或肥胖组(10 4例 )CART基因的 3个外显子进行筛查 ,并测序。结果　在正常体重组中国汉族人中存在着CART基因的多态性 ,为DNA链 145 7位上的碱基A缺失 ,位于外显子 3的 3′端非翻译区。等位基因频率为 :A +0 .849、A - 0 .15 1,基因型频率为 :A +A +0 .711、A +A - 0 .2 76、A -A - 0 .0 13 ,已达到Hardy Weinberg遗传平衡。在超重及肥胖组中CART A的等位基因频率为 :A +0 .82 7、A - 0 .173 ,基因型频率为 :A +A +0 .673、A +A - 0 .3 0 8、A -A - 0 .0 19,CART基因A的缺失和超重及肥胖无明显关联。结论　中国汉族人中存在着CART基因DNA链 145 7位上的碱基A缺失 ,此多态性与肥胖无明显关联。     

海南黎族人群低密度脂蛋白受体基因AvaⅡ多态性与血脂水平关系的研究△

目的探讨低密度脂蛋白受体（10wdensitylipoproteinreceptor,LDL-R）基因外显子13中AvaⅡ多态性在海南黎族健康人群中的频率分布,分析其基因多态性与血脂水平的关系。方法采用分层随机抽样方法选取1110例样本（实验组：黎族518名,对照组：汉族592名）,采空腹静脉血,测血清中三酰甘油（triaeylglycerol,TG）、总胆固醇（totalcholesterol,TC）、高密度脂蛋白胆固醇（highdensitylipoproteincholesterol,HDL-C）浓度、低密度脂蛋白胆固醇（10wdensitylipoproteincholesterol,LDL-C）浓度,运用多聚酶链反应-限制性内切酶片段长度多态性（PCR-RFLP）技术检测LDL-R基因AvaⅡ多态性。结果黎族人群与汉族人群LDL．RAvaⅡ基因3种基因型（A-A-）、（A＋A-）、（A＋A＋）频率[70．7％（366／518）VS．70．3％（416／592）,P〉0．05;24．7％（128／518）US．27％（160／592）．P〉0．05：4．6％（24／518vs．2．7％（16／592）,P〉0．05]无]和等位基因的频率[17．0％VS．16．2％,P〉0．05;83．0％眠83．8％,P〉0．05]比较．差异无统计学意义。黎族人群LDL-R3种基因型（A-A-）、（A＋A-）、（A＋A＋）血脂浓度比较,只有血清TG浓度差异有统计学意义[（1．271±0．730）mmol／LVS．（1．552＋1．113）mmol／Lus（1．046_＋0．284）mmol／L,F=3．454,P=0．033]：汉族人群3种基因型（A-A-）、（A＋A-）、（A＋A＋）血脂浓度比较,差异无统计学意义（P〉0．05）。结论黎族人群与汉族人群LDL-R基因AvaⅡ多态性及等位基因频率未发现显著差异。黎族人群AvaⅡ三种基因型（A-A-）、（A＋A-）、（A＋A＋）的血脂浓度比较,只有TG浓度发现显著差异。     

内皮细胞型一氧化氮合酶基因多态性与糖尿病肾病的相关性研究

目的：探讨内皮细胞型一氧化氮合酶（eNOS)基因第7外显子894G→T点突变,及其第4内含子的1个27bp的插入／缺失（a/b)多态性,与2型糖尿病肾病（DN）之间的关系。方法：894G→T点突变采用聚合酶链反应限制性片段长度多态性（PCR－RFLP）技术,27bp的a/b多态性采用聚合酶链反应结合4％琼脂糖凝胶电泳分离技术。比较各组间的等位基因频率与基因型频率。结果：（1）早期糖尿病肾病组（DN^ 组）T等位基因及TG基因型频率显著高于糖尿病非肾病患者（DN^-组,P＜0．05）。（2）DN^ 组a等位基因及ab基因型频率显著高于DN^-组（P＜0．05）。（3）DN^ 组的TGab基因型频率亦显著高于DN^-组（P＜0．05）。（4）糖基化血红蛋白（GHbA1c),收缩压（SBP）,总胆固醇（TC）,eNOS基因第7外显子894G→T基因点突变及第4内含子a/b多态性均属糖尿病肾病的独立危险因素。结论：糖尿病患者eNOS基因第7外显子T等位基因及第4内含子a等位基因与DN^ 的发生密切相关,两种等位基因同时存在者,DN^ 发病风险更高。     

B族Ⅰ型清道夫受体基因外显子1多态性与冠心病、血脂水平的关系

目的 探讨B族Ⅰ型清道夫受体（SR-BⅠ）基因外显子1和内含子5单核苷酸多态性对中国天津地区汉族人群血脂水平和冠心病发病易感性的影响。方法 应用聚合酶链反应-限制性片段长度多态性分析方法,测定370例冠心病患者和143例正常对照者SR-BⅠ基因外显子1的AluI酶切基因型及内含子5的ApaI酶切基因型,分析其与血脂水平、冠心病及冠状动脉造影结果的关系。结果 两组研究对象中内含子5均仅发现CC基因型。SR-BⅠ外显子1等位基因G、A频率在冠心病组和对照组分别为0.988、0.012和0.997、0.003。基因型分布符合Hardy-Weinberg平衡定律。外显子1 AluI酶切多态性基因型频率、等位基因频率组间比较均无显著性差异（P>0.05）。在冠心病组男性患者中,外显子1基因多态性变异组（GA＋AA基因型亚组）的血清高密度脂蛋白胆固醇和载脂蛋白AⅠ水平高于无变异组（GG基因型亚组）。结论 SR-BⅠ基因外显子1多态性可能与中国天津汉族人群冠心病发病易感性及冠心病病变严重程度无关,但冠心病患者SR-BⅠ基因外显子1 A等位基因可引起男性血清高密度脂蛋白胆固醇和载脂蛋白AⅠ水平升高。     

血管紧张素转换酶和载脂蛋白E基因多态性与脑梗塞的关系

目的：探讨血管紧张素转换酶（ACE）基因插入／缺失（I／D）和载脂蛋白E（apoE)外显子4基因多态性与湖北汉族人脑梗塞的关系,方法：分析采用PCR和PCR结合限制性片段长度多态性方法分别检测ACE和apoE基因多态性。结果：脑梗塞ACE基因DD基因频率0．293及D等位基因频率0．569均显著高于对照组的0．134和0．390（P＜0．01）,脑梗塞apoE外显子4基因多态性与正常对照组比无显著性差异,结论：ACE基因缺失型可能是汉族人脑梗塞的遗传危险因素,未发现apoE外显子4基因多态性与脑梗塞之间存在相关关系。     

载脂蛋白H基因多态性与冠心病及血脂代谢关系的研究

目的探讨载脂蛋白H(ApoH)外显子3、8基因多态性与冠心病(CHD)、血脂代谢的关系。方法采用聚合酶链式反应-单链构象多态技术(PCR-SSCP)分析方法,分析了100例健康人及110例CHD患者的ApoH外显子3,8基因型及血脂测定。结果(1)CHD组外显3 GG基因型的频率为81.8%,GA+AA基因型频率为18.2%,G等位基因频率为88%,A等位基因频率是12%,与对照组比较无差异。(2)CHD组外显子8 GG基因型频率为74.5%,GC基因型频率为25.5%,G等位基因频率为87%,C等位基因频率为13%,与对照组比较CHD组的GC基因型频率及C等位基因频率显著增高。(3)外显子3 CHD组低密度胆固醇(LDL-C)高于对照组(P<0.05),CHD组及对照组各基因型间的血脂水平无差异;(4)外显子8 CHD组LDL-C也显著高于对照组(P<0.05),CHD组GC基因型的甘油三酯(TG)显著高于GG型和及对照组的各基因型。结论(1)ApoH外显子3基因多态性与CHD及血脂代谢无相关性;(2)ApoH外显子8 GC基因型及C等位基因与CHD有关,ApoH外显子8基因多态性与TG有关。     

载脂蛋白H基因多态性与冠心病关系的研究

目的探讨载脂蛋白H(ApoH)外显子3、8基因多态性与冠心病(CHD)的关系。方法采用聚合酶链式反应结合限制性片段长度多态分析方法,分析了100例健康人及110例冠心病患者的ApoH外显子3、8基因型。结果CHD组外显3GG基因型的频率为81.8%,GA+AA基因型频率为11.8%,G等位基因频率为88%,A等位基因频率是12%,与对照组比较无差异,CHD组外显子8GG基因型频率为74.5%、GC基因型频率为25.5%,G等位基因频率为87%,C等位基因频率为13%,与对照组比较CHD组的GC基因型频率及C等位基因频率显著增高。结论ApoH外显子3基因多态性与CHD无相关性;8GC基因型及C等位基因与CHD有关。     

细胞毒性T淋巴细胞相关抗原4基因多态性与中国汉族人1型糖尿病、自身免疫性甲状腺病的相关性研究

目的 探讨细胞毒性T淋巴细胞相关抗原4（CTLA－4）基因外显子1的49位点A／G多态性与中国汉族人1型糖尿病、自身免疫性甲状腺病（AITDs）的关系。方法 对33例典型1型糖尿病患者、57例成人晚发自身免疫性糖尿病患者（LADA）、122例自身免疫甲状腺疾病患者（AITDs）和84例健康对照者采用聚合酶链反应－限制性片段长度多态性（PCR－RFLP）技术分析CTLA－4基因外显子1的49位点基因型。结果 1型糖尿病患者的CTLA－4G等位基因频率显著高于对照组（P＝0．0005）;胰岛细胞抗体和谷氨酸脱酶脱羧酶抗体阳性率与G无明显相关性。AITDs患者CTLA－4G等位基因频率高于对照组（P＜0．0001）;Graves病组按性别分层分析后发现G等位基因在不同性别的分布差异无显著性。12例AITDs患者同时合并糖尿病,其CTLA－4G等位基因频率与单纯AITDs患者相比差异无显著性。结论 CTLA－4基因外显子1多态性与中国汉族人1型糖尿病、AITDs有关,G等位基因是1型糖尿病、AITDs的危险因素之一。     

硫酸乙酰肝素蛋白多糖基因多态性与糖尿病肾病关系的研究

目的：探讨硫酸乙酰肝素蛋白多糖基因（HSPG）多态性与中国汉族人2型糖尿病肾脏并发症之间的关系,方法：应用限制性内切酶BamHI的PCR－RFLP法,检测190例非DM对照和136例2型糖尿病伴或不伴肾病者的HSPG多态性基因型。结果：正常白蛋白尿组和异常（微量和大量）白蛋白尿组之间BamHI HSPG2等位基因频率和基因型频率无显著性差异。非MD对照组和糖尿病组之间BamHI HSPG2等位基因频率无显著性差异,但基因型频率的差异有统计学意义。结论：中国汉族人B HI贡HSPG2多态性与2型糖尿病肾脏并发症的发生无显著性相关关系,但其基因型频率似与糖尿病发病有关。     

二乙基对硝基苯磷酯酶2基因G/A148多态性与2型糖尿病及血脂的关系

目的：了解二乙基对硝基苯磷酯酶（PON）2基因G／A148多态性与中国北方地区人群2型糖尿病的相关性及其与血脂等的关系。方法：采用配偶对的病例－对照研究设计，用聚合酶链反应（PCR）－长度多态性的方法检测PON2基因G／A148多态性。结果：PON2基因G／A148多态性的基因型频率和等位基因频率在2型糖尿病组和对照组间差异无显著性意义。与非肥胖、无G等位基因相比，肥胖无G等位基因时，发生2型糖尿病的危害险度（OR）值为2．04；肥胖有G等位基因时，OR增至3．18。在对照人群中，含G等位基因组的总胆固醇（TC）、低密度脂蛋白（LDL）及载脂蛋白B（ApoB)水平均比AA基因型组高。G等位基因对高脂血症的OR为2．48，P＝0．5。结论：在中国北方地区人群中PON2基因G／A148多态性与肥胖有协同促进2型糖尿病发生的作用。在非糖尿病人群中，此多态性与总胆固醇等血脂水平显著相关。     

郑州地区汉族糖尿病合并冠心病患者脂蛋白脂酶多态性

目的探讨脂蛋白脂酶(LPL)在2型糖尿病和糖尿病合并冠心病发病中的作用机制。方法测定糖尿病和糖尿病合并冠心病患者外周血白细胞LPL内含子6的PvuⅡ和内含子8的HindⅢ多态性,以及血清中甘油三酯(TG)、胆固醇(TC)、高密度脂蛋白胆固醇(HDL-c)等的水平。结果糖尿病及糖尿病合并冠心病患者外周血LPL基因PvuⅡ和HindⅢ的等位基因P、H频率与对照组相比较无显著性差异。糖尿病和糖尿病合并冠心病患者LPL基因PvuⅡ多态性中的P ／P 基因型患者的TG、TC和LDL-c水平高于非P ／P 患者和对照组,HDL—c水平低于非P ／P 患者和对照组。结论LPL基因PvuⅡ突变位点与糖尿病合并冠心病患者体内脂质代谢紊乱有关,可通过了解LPL基因多态性以了解糖尿病和糖尿病合并冠心病脂质代谢紊乱的状况。     

The G-250A substitution in the promoter region of the hepatic lipase gene is associated with the conversion from impaired glucose tolerance to type 2 diabetes: the STOP-NIDDM trial

OBJECTIVES: Dyslipidaemia that includes high levels of triglycerides and low high-density lipoprotein cholesterol is a risk factor for type 2 diabetes. Hepatic lipase gene encoding a lipolytic enzyme participating in remodelling of plasma lipoproteins and formation of serum lipid profile is a promising candidate gene for type 2 diabetes. The purpose of the study was to investigate whether the G-250A promoter polymorphism of the LIPC gene predicts the conversion from impaired glucose tolerance (IGT) to type 2 diabetes. SUBJECTS AND DESIGN: Study population comprised of subjects who participated in the STOP-NIDDM trial aiming to investigate the effect of acarbose compared with placebo on the prevention of type 2 diabetes in subjects with IGT. RESULTS: Compared with subjects carrying the G-250G genotype, subjects with the A-250A genotype of the LIPC gene had a 2.35-fold [95% confidence interval (CI) 1.27-4.33, P = 0.006] higher risk of developing type 2 diabetes. Subjects in the placebo group and all women carrying the A-250A genotype had an especially high risk for the conversion to type 2 diabetes [odds ratio (OR) 2.74, 95% CI 1.14-6.61, P = 0.024 and OR 3.70, 95% CI 1.35-10.1, P = 0.011 respectively]. CONCLUSION: The G-250A promoter polymorphism of the LIPC gene is associated with an increased risk of development of type 2 diabetes in high-risk subjects with IGT. Therefore, genes regulating atherogenic dyslipidaemia are promising candidate genes for type 2 diabetes.     

Peroxisome proliferator-activated receptor-gamma co-activator-1alpha (PGC-1alpha) gene polymorphisms and their relationship to Type 2 diabetes in Asian Indians.

AIMS: The objective of the present investigation was to examine the relationship of three polymorphisms, Thr394Thr, Gly482Ser and +A2962G, of the peroxisome proliferator activated receptor-gamma co-activator-1 alpha (PGC-1alpha) gene with Type 2 diabetes in Asian Indians. METHODS: The study group comprised 515 Type 2 diabetic and 882 normal glucose tolerant subjects chosen from the Chennai Urban Rural Epidemiology Study, an ongoing population-based study in southern India. The three polymorphisms were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Haplotype frequencies were estimated using an expectation-maximization (EM) algorithm. Linkage disequilibrium was estimated from the estimates of haplotypic frequencies. RESULTS: The three polymorphisms studied were not in linkage disequilibrium. With respect to the Thr394Thr polymorphism, 20% of the Type 2 diabetic patients (103/515) had the GA genotype compared with 12% of the normal glucose tolerance (NGT) subjects (108/882) (P = 0.0004). The frequency of the A allele was also higher in Type 2 diabetic subjects (0.11) compared with NGT subjects (0.07) (P = 0.002). Regression analysis revealed the odds ratio for Type 2 diabetes for the susceptible genotype (XA) to be 1.683 (95% confidence intervals: 1.264-2.241, P = 0.0004). Age adjusted glycated haemoglobin (P = 0.003), serum cholesterol (P = 0.001) and low-density lipoprotein (LDL) cholesterol (P = 0.001) levels and systolic blood pressure (P = 0.001) were higher in the NGT subjects with the XA genotype compared with GG genotype. There were no differences in genotype or allelic distribution between the Type 2 diabetic and NGT subjects with respect to the Gly482Ser and +A2962G polymorphisms. CONCLUSIONS: The A allele of Thr394Thr (G --> A) polymorphism of the PGC-1 gene is associated with Type 2 diabetes in Asian Indian subjects and the XA genotype confers 1.6 times higher risk for Type 2 diabetes compared with the GG genotype in this population.     

Role of type IV collagen in prolactin release from anterior pituitaries of male rats

We previously demonstrated that laminin, a component of basement membranes, modulates pituitary hormone secretion. In the present study, we evaluated the effect of type IV collagen, another component of this membrane, on the release of prolactin (PRL) by anterior pituitary gland from adult male rats. Hemipituitaries were incubated for 3 h with type IV collagen or antibodies against it and PRL release was studied. Rabbit IgG to type IV collagen at concentrations of 10⁻⁷−10⁻⁵ M had a significant stimulatory effect on PRL release, in comparison to normal rabbit serum IgG or medium alone used as controls. Type IV collagen induced a significant inhibitory effect on basal release of PRL at a concentration of 30 μg/mL. A slight decrease in PRL release was detected in thyrotropin-releasing hormone-stimulated hemipituitaries incubated with type IV collagen at all concentrations used. These results suggest that type IV collagen, similar to laminin-1, modulates PRL released from hemipituitaries, in vitro.     

基质金属蛋白酶9基因多态性与2型糖尿病血管病变的相关性研究

目的 探讨基质金属蛋白酶9(MMP-9)基因C-1562T多态性与2型糖尿痫血管病变的关系．方法 运用PCR-RFLP检测110名健康对照者和450例2型糖尿病(DM)患者(其中单纯2型DM者100例、大血管病变者120例、糖尿病肾病(DN)患者130例、糖尿病视网膜病变患者100例)的MMP-9基因型，比较各组的基因型和等位基因频率。结果 (1)所有糖尿病视网膜病变患者的基因型均为CC型。(2)与对照组和单纯2型DM组相比，大血管病变组的T基因型和T等位基因频率显著升高，而DN组的TT基因型和T等位基因频率明显下降。(3)Logistic回归分析显示MMP-9 T等位基因、血清MMP-9、总胆固醇、低密度脂蛋白胆固醇、脂蛋白(a)是大血管病变发生的危险因素；尿白蛋白排泄率、脂蛋白(a)、HbA1C是DN发生的危险因素。结论 MMP-9基因C-1562T多态性与2型DM血管病变的发生有关，T等位基因是大血管病变的易感基因，是DN的保护基因。     

LDL受体基因第4外显子Xsp Ⅰ位点多态性与高胆固醇血症的相关性研究

目的 研究低密度脂蛋白(LDL)受体基因第4外显子Xsp Ⅰ酶切位点多态性与高胆固醇血症的关系.方法 应用PCR-RFLP技术检测446例高胆固醇血症、284例边缘高胆固醇血症及187名正常血脂人群LDL受体基因第4外显子的Xsp Ⅰ酶切位点多态性.结果 根据LDL受体基因第4外显子是否存在Xsp Ⅰ酶切位点,分为X+X+、X+X-、X-X-三种基因型和X+、X-两种等位基因.(1)高胆固醇血症组的X+X+基因型频率和X+等位基因频率明显高于边缘高胆固醇血症组与正常血脂组(均P<0.05);(2)在第4外显子Xsp Ⅰ位点X-X-、X+X-、X+X+不同基因型组中总胆固醇、低密度脂蛋白胆固醇逐步升高,高密度脂蛋白胆固醇逐步下降(P<0.05);(3)单因素及多因素logisitic回归分析显示X+X+基因型和X+等位基因与高胆固醇血症显著相关.结论 LDL受体基因第4外显子Xsp Ⅰ位点存在基因多态性,X+X+基因型及X+等位基因是中国人高胆固醇血症产生的原因之一.     

Association of lipoprotein lipase Hind III and Ser 447 Ter polymorphisms with dyslipidemia in Asian Indians

Studies have shown an association between the lipoprotein lipase gene and dyslipidemia and atherosclerosis in some populations. The aim of this study was to investigate the association between the common lipoprotein lipase HindIII (T-G) and Ser447Ter (C-G) polymorphisms with dyslipidemia in Asian Indians, who are known to have very high rates of premature coronary artery disease. A total of 1,015 subjects, comprising 550 normal glucose-tolerant subjects and 465 patients with type 2 diabetes, were randomly selected from the Chennai Urban Rural Epidemiology Study. The total serum cholesterol, high-density lipoprotein (HDL) cholesterol, and serum triglyceride levels were assayed using enzymatic methods. Low-density lipoprotein cholesterol was calculated using the Friedewald formula. Genotyping was done using the polymerase chain reaction-restriction fragment length polymorphism method. A significant association was found between the H+ allele of HindIII with low HDL cholesterol and elevated triglyceride levels. The Ser allele of Ser447Ter was also strongly associated with low HDL cholesterol levels. No association was found between the H+ allele and Ser Allele with the total or low-density lipoprotein cholesterol levels. Group-wise haplotype frequencies were generated using the expectation-maximization algorithm to detect differences in overall haplotype frequency profiles between the case-control groups. The haplotype analysis showed that the H+ Ser and H- Ter were the "high-risk" and "low-risk" haplotypes for low HDL cholesterol and elevated triglyceride levels, respectively. In conclusion, the H+ Ser haplotype of the lipoprotein lipase gene was associated with low HDL cholesterol levels and hypertriglyceridemia in Asian Indians.     

Effect of pravastatin on intermediate-density and low-density lipoproteins containing apolipoprotein CIII in patients with diabetes mellitus

The apolipoprotein (apo) B lipoproteins, intermediate-density lipoproteins (IDL) and low-density lipoproteins (LDL) that contain apo-CIII are associated with coronary heart disease in patients with diabetes mellitus. Apo-CIII is prominent in diabetic dyslipidemia. We studied whether these apo-B lipoprotein types containing apo-CIII in diabetics are reduced by 1 year of pravastatin treatment. We randomly selected 45 age- and gender-matched placebo/pravastatin pairs from diabetic patients in the Cholesterol and Recurrent Events trial, a randomized, double-blinded trial of pravastatin 40 mg monotherapy. Very-low-density lipoproteins (VLDL) and IDL + LDL particles were subdivided based on the presence of apo-E and apo-CIII to yield 3 particle types: E+CIII+, E-CIII+, and E-CIII-. Compared with placebo, pravastatin reduced IDL + LDL apo-B concentrations for E+CIII+, E-CIII+, and E-CIII- by 42% (p = 0.02), 17% (p = 0.7), and 29% (p = 0.002), respectively, commensurate with IDL + LDL cholesterol concentration reductions in the particle types of 29% (p = 0.002), 25% (p = 0.2), and 36% (p <0.0001), respectively. These IDL + LDL CIII+ particles are rich in triglycerides and cholesterol and are likely to be remnant particles of VLDL. Thus, pravastatin reduced potentially atherogenic remnant particles, a prominent component of diabetic dyslipidemia associated with coronary events; these results may contribute to its demonstrated effectiveness in reducing coronary heart disease in diabetics.     

MicroRNA-938及其靶基因 TGFBR1单核苷酸多态性与出血性脑卒中的关联研究

目的探讨转化生长因子β受体1（TGFBR1）基因位点rs12346650及结合该基因的miR-938编码基因位点rs2505901单核苷酸多态性（SNP）与出血性脑卒中（HS）的关联。 方法采用病例-对照研究方式,以自2008年1月至2013年7月淮安市第一人民医院和淮阴区医院收治的239例急性HS患者为病例组,993例无脑卒中史的社区人群为对照组。收集性别、年龄、身高、体质量等基本人口信息,及糖尿病史、高血压病史,测量血压并检测血糖（GLU）、甘油三酯（TG）、胆固醇（TC）、高密度脂蛋白胆固醇（HDL-C）、低密度脂蛋白胆固醇（LDL-C）。采用聚合酶链式反应-限制性内切酶片段长度多态性（RFLP）的方法进行基因分型。 结果病例组和对照组间rs2505901和rs12346650的基因型、等位基因型频率差异均无统计学意义（P>0.05）。应用Logistic回归模型校正混杂因素年龄、性别、Ⅱ型糖尿病、TC、TG、HDL-C和LDL-C后,结果仍无统计学意义（P>0.05）。进一步按性别对两个位点与HS的关联性进行分层分析,男性中rs2505901位点显性模型有统计学意义[比值比（OR）=0.641,95%置信区间（CI）：0.417~0.984]。rs12346650位点相加模型和隐性模型均有统计学意义（OR=1.369,95%CI：1.020~1.836;OR=2.092,95%CI：1.243~3.520）。但校正混杂因素后,模型差异无统计学意义（P>0.05）。在女性人群中,而校正协变量后rs12346650位点隐性模型有统计学意义（OR=0.318,95%CI：0.114~0.891）。 结论本研究初步发现TGFBR1基因rs12346650、MIR938基因rs2505901多态性与HS存在关联。