脂蛋白酯酶基因HindⅢ和PvuⅡ位点多态与中国人2型糖尿病的关联及meta分析

目的:探讨脂蛋白脂酶基因HindⅢ(rs320) 和PvuⅡ(rs285)位点多态与中国人2型糖尿病的相关性.方法:采用聚合酶链反应-限制性片段长度多态性方法,对919个湖北地区汉人(包括2型糖尿病患者481人,健康对照438人)脂蛋白脂酶基因内含子6PvuⅡ和内含子8HindⅢ位点多态进行基因分型和关联分析,同时对中国大陆人群的相关研究进行meta分析.结果:HindⅢ和PvuⅡ位点湖北汉族2型糖尿病人和正常人的基因型和等位基因频率均无显著差异.5个研究包括2型糖尿病患者1252例,健康对照1075例的PvuⅡ位点meta分析表明该位点与中国人2型糖尿病无显著相关性(P=0.39);9个研究包括2型糖尿病患者1515例.健康时照1022例的HindⅢ位点meta分析表明该位点与中国人2型糖尿病也无相关性(P=0.14).结论:脂蛋白脂酶基因HindⅢ和PvuⅡ位点多态与中国人2型糖尿病的发生无关.     

脂蛋白酯酶基因HindIII和PvuII位点多态与中国人2型糖尿病的关联及meta分析

目的：探讨脂蛋白脂酶基因HindIII（rs320）和PvuII（rs285）位点多态与中国人2型糖尿病的相关性。方法：采用聚合酶链反应-限制性片段长度多态性方法,对919个湖北地区汉人（包括2型糖尿病患者481人,健康对照438人）脂蛋白脂酶基因内含子6PvuII和内含子8HindIII位点多态进行基因分型和关联分析,同时对中国大陆人群的相关研究进行meta分析。结果：HindIII和PvuII位点湖北汉族2型糖尿病人和正常人的基因型和等位基因频率均无显著差异。5个研究包括2型糖尿病患者1252例,健康对照1075例的PvuII位点meta分析表明该位点与中国人2型糖尿病无显著相关性（P=0.39）;9个研究包括2型糖尿病患者1515例,健康对照1022例的HindIII位点meta分析表明该位点与中国人2型糖尿病也无相关性（P=0.14）。结论：脂蛋白脂酶基因HindIII和PvuII位点多态与中国人2型糖尿病的发生无关。     

PPARGC1A基因Thr394Thr/Gly482Ser多态性与2型糖尿病的关联研究

对344例2型糖尿病患者和307名正常人的PPARGC1A基因单核苷酸多态性rs2970847(Thr394Thr)和rs8192678(Gly482Ser)与2型糖尿病的关系进行了单标记和单体型关联分析以及Logistic回归分析。在单标记分析中,对照组与病例组Thr394Thr的基因型和等位基因频率有显著差异(基因型, P =0.006; 等位基因, P < 0.001); Logistic回归和单体型分析表明, Thr394Thr的AA基因型及Thr394(ACA)-Ser482单体型增加患2型糖尿病的风险。Gly482Ser的基因型和等位基因频率在对照组与病例组间无显著差异。PPARGC1A基因是湖北汉人的一个2型糖尿病易感基因。     

脂联素基因单核苷酸多态性T45G与湖北汉族人2型糖尿病的遗传关联研究

采用病例.家系对照和随机病例.对照两种设计,分析了603例样本脂联素基因(Adiponectin,APMl)单核苷酸多态性(SNP)rs13061862(T45G)与湖北汉族人群2型糖尿病的相关性.在所有样本中,2型糖尿病病人的G等位基因及GG基因型频率显著高于正常人(G:42.0%比21.7%,P<0.001;GG:13.6%比4.5%,P=0.032);在180个病例.家系对照中,2型糖尿病患者的GG基因型频率显著高于对照组(GG:17.8%比5.6%,P=0.011);在423个随机病例.对照中,2型糖尿病患者GG基因型频率也显著高于对照组(GG:12.2%比3.9%,P=0.025);单因素Logistic回归分析显示,GG基因型是2型糖尿病的危险因子(OR=3.58,95%C/=1.70-7.54).这些结果表明,脂联素基因SNPT45G多态性与湖北汉族人群2型糖尿病的发生发展相关,GG基因型是中国湖北汉族人2型糖尿病的遗传危险因素.     

脂蛋白酯酶基因PvuⅡ多态与中国人高脂血症和冠心病的Meta分析

国内多个研究报道了脂蛋白酯酶基因(LPL)PvuⅡ多态(rs285)与中国人高脂血症和冠心病的关系,但单个研究的样本量都较小(119～647),结果不尽一致.为了全面客观评价LPL基因PvuⅡ多态在中国人高脂血症和冠心病发病中的作用,文章对所有中国人群的研究进行了Meta分析.共11篇文献纳入研究,其中关于高脂血症的研究6项,包括患者943例,正常对照1 093例,关于冠心病的研究5项,包括患者821例,正常对照727例.入选研究无明显的发表偏倚,但经同质性检验存在明显的异质性.Meta分析结果显示LPL PvuⅡ多态的P+等位基因增加高脂血症的患病风险(OR=1.36,95%CI1.07～1.73,P=0.011),但与冠心病相关不显著(P=0.755).因此,文章结果表明LPL￡基因pvuⅡ多态与中国人高脂血症易感性相关联,与冠心病关联不显著.     

新疆维吾尔族人寻常型银屑病与HLA-Cw*0602等位基因的关联研究

目的:寻找新疆维吾尔族人银屑病与HLA-Cw*0602等位基因的相关性.方法:运用聚合酶链反应-序列特异性引物(PCR-SSP)法,检测新疆维吾尔族人200例寻常型银屑病患者和200例健康对照的HLA-Cw*0602等位基因频率,分析携带该基因的银屑病患者与其家族史的相互关系.结果:①病例组HLA-Cw*0602等位基因频率较对照组显著升高(73%vs24%,X2＝108.551,OR=10.171,95%可信区间6.410～16.140,P＝0.000),且无性别差异;②携带HLA-Cw*0602等位基因的银屑病患者发病年龄早于不具有该等位基因的患者(80.2%vs28.6%,X2=10.256,OR=0.950,95%可信区间0.920～0.981,P=0.001);③有银屑病家族史患者携带HLA-Cw*0602等位基因的频率与无银屑病家族史的患者无显著意义(X2=0.000,OR=0.986,95%可信区间0.252～3.860,P=1.000).结论:新疆维吾尔族银屑病患者与HLA-Cw*0602等位基因高度关联,且携带该等位基因的银屑病患者易发生早发型(发病年龄≤40岁)银屑病,但不能确定有家族倾向性.     

中国北方汉族人群Apolipoprotein基因T-1131C多态与急性冠脉综合征的关联研究

目的:探讨ApoA5基因T-1131C多态性与急性冠脉综合征(acute coronary syndrome,ACS)的相关关系。方法:采用聚合酶链反应-限制性片段长度多态性技术结合琼脂糖凝胶电泳和基因测序等方法对675例ACS的患者和660例正常对照组进行检测,分析ApoA5基因T-1131C单核苷酸多态的基因型和等位基因频率的在ACS组和对照组的分布情况。结果:ApoA5基因T-1131C单核苷酸多态在ACS组和对照组间的分布频率皆符合Hardy-Weinberg平衡定律(P0.05),ApoA5基因T-1131C单核苷酸多态三种基因型(TT型,TC型和CC型)在ACS组分布频率分别为35.4%,48.1%和16.4%,在对照组的分布频率分别为41.1%,48.6%和10.4%。ApoA5基因T-1131C单核苷酸多态的CC等位基因在ACS组和对照组间的分布存在显著性差异(P=0.002),C等位基因是ACS发病的独立的危险因素1.28(P=0.002,95%CI=1.09-1.57)。Logistic回归校正性别、年龄、体重指数、吸烟、高血压、高脂血症、糖尿病等CAD易患因素后,ApoA5基因T-1131C多态与ACS的发病仍存在相关关系。结论:在中国北方汉族人群中ApoA5基因T-1131C多态与ACS的发病相关,ApoA5基因T-1131C多态C等位基因是ACS发病的独立危险因素。     

SUMO4基因多态性与2型糖尿病的关系

为了探讨北京汉族人群小泛素样修饰蛋白4(Small ubiquitin-like modifier 4, SUMO4)基因多态性与2型糖尿病(Type 2 diabetes mellitus, T2DM)的关系, 文章采用病例对照设计, 选取404例T2DM患者(T2DM组)以及年龄、性别匹配的500例健康对照者(Control组)作为研究对象, 应用聚合酶链反应-高分辨熔解曲线(PCR-HRM)技术结合测序验证法, 检测SUMO4基因3个单核苷酸多态性位点(rs237025、rs237024及rs600739)的基因型与等位基因分布情况, 比较T2DM组糖化血红蛋白(Hemoglobin A_1c, HbA_1c)在各基因型间的分布, 并进行单倍型分析。结果显示：①rs237025的G等位基因在T2DM组出现的频率更高(0.334 vs. 0.282, P =0.017); GA基因型携带者患T2DM的风险是AA基因型携带者的1.563倍(P=0.001; OR, 1.563; 95% CI, 1.189-2.053); 在显性模型(GG+GA vs. AA)分析中, G等位基因携带者(GG+GA)患T2DM的风险是AA基因型携带者的1.525倍(P =0.002; OR, 1.525; 95% CI, 1.169-1.989)。而rs237024和rs600739多态性未发现与T2DM的易感性相关(P >0.05)。②在T2DM组, rs237025的G等位基因携带者、rs237024的TT基因型携带者及rs600739的GG基因携带者具有较高的HbA_1c水平, 但各基因型携带者之间HbA_1c水平并无统计学差异(P >0.05)。③单倍型AAC、AGC及GGT与T2DM的易感性正相关(OR>1); 而单倍型AAT、GAC与T2DM的易感性负相关(OR<1)。据此得出结论：rs237025多态性与北京汉族人群T2DM的易感性相关, rs237024和rs600739多态性可能与T2DM的易感性不相关。     

eNOS基因第四内含子a／b多态与湖北汉族人原发性高血压而不是2型糖尿病相关联

目的：探讨内皮型一氧化氮合酶基因（eNOS）与湖北汉族人原发性高血压（EH）和2型糖尿病（T2DM）的关系。方法：采用病例-对照设计,分析了657例样本eNOS第四内含子重复序列多态性a／b,测量了身高、体重、腰围、臀围、收缩压、舒张压、空腹血糖,餐后2小时血糖等临床指标。结果：EH病例组eNOSab＋aa基因型和a等位基因频率显著高于EH对照组（基因型：25．3％vs18．9％,P=0．049;等位基因：13．3％vs9．8％,P=0．045）;而T2DM病例组与T2DM对照组的eNOSab＋aa基因型频率没有显著差异（20．2％vs24．1％,P=0．247）。单因素Logistic回归分析显示eNOSab＋aa基因型是EH的危险因子（OR=1．623,95％CI 1．053—2．506,P=0．029）。多因素回归分析显示,EH的独立风险因素是年龄、体重指数和eNOS基因a／b多态性,而体重指数和腰臀比是T2DM的独立风险因素。结论：eNOS基因a／b多态性是湖北汉族人群EH的一个易感标记,而与T2DM没有相关性。     

强直性脊柱炎的新易感基因识别研究

为了研究中国人群中TNFα基因与强直性脊柱炎（ankylosing spondylitis,AS）病理发生的潜在关系,我们通过对中国南方75名AS患者的TNFα基因启动子进行扫描分析,发现-850处突变型T等位基因出现频率较高(39.3%)。经Case-Control研究发现TT突变基因型在AS组中的分布显著高于对照组(10.7% vs 2.1% ,P=0.003);突变型T等位基因携带者在AS组与对照组间分布差异极其显著(68.0% vs 21.4%,P=7.928×10－13)。按性别分组后,发现TX基因型和非TX基因型在AS组和对照组之间的分布差异同样具有统计学意义(男性:P=1.029×10-10;女性: P=0.001),此多态位点在男性和女性中都与AS发生存在显著性关联。经文献查新未见本突变位点在国内外有与AS存在相关的报道。本研究证实了我们的研究假设,TNFα基因启动子-850C→T的突变可能是AS发生的新易感基因。Abstract: To study the potential correlations between variances of TNFαgene and onset of ankylosing spondylitis in Chinese population, We scanned and analyzed the promoters of TNFαgenes in 75 AS patients from south of China and found –850 T mutation allele frequency rather high (39.3%).By case-control study, the distribution of TT genotype is significantly higher in AS patients than that in normal subjects (10.7% VS 2.1%,P=0.003); Mutation T allele has a remarkable difference between AS group and normal control (68.0% vs 21.4%,P=7.928×10－13). The difference in distribution of TX genotype and non -TX genotype is also significant statistically between different genders(male: P=1.029×10-10;female: P=0.001).The result suggests that this variation has a strong association with AS in males and females. No similar reports about the association between AS and the T mutation allele have been acquired. Therefore, our hypothesis can be supported by our results on the whole and the –850C→T mutation allele in the region on promoter of TNFαgene is likely one of susceptible genes to AS.     

Association between the ENPP1 K121Q Polymorphism and Risk of Diabetic Kidney Disease: A Systematic Review and Meta-Analysis

The potential association between the K121Q (A/C, rs1044498) polymorphism in the ectonucleotide pyrophosphatase/phosphodiesterase (ENPP1) gene and risk of diabetic kidney disease (DKD) has been investigated. Nevertheless, the effect of this variant on DKD risk is still under debate, and conflicting results have been reported. To this date, no meta-analysis has evaluated the association of the K121Q polymorphism with DKD. This paper describes the first meta-analysis conducted to evaluate whether the ENPP1K121Q polymorphism is associated with DKD. A literature search was conducted to identify all case-control or cross-sectional studies that evaluated associations between the ENPP1K121Q polymorphism and DKD. Pooled odds ratios (OR) and 95% confidence intervals (95% CI) were calculated for allele contrast, additive, dominant and recessive inheritance models. Seven studies were eligible for inclusion in the meta-analysis, providing data on 3571 type 1 or type 2 diabetic patients (1606 cases with DKD and 1965 diabetic controls without this complication). No significant heterogeneity was observed among the studies included in the meta-analysis when assuming different inheritance models (I^² < 50% or P > 0.10 for the entire sample and after stratification by ethnicity). Meta-analysis results revealed significant associations between the K121Q polymorphism and risk of DKD in Asians and Europeans when assuming the different inheritance models analyzed. The most powerful association was observed for the additive model (OR = 1.74, 95% CI 1.27-2.38 for the total sample). In conclusion, the present meta-analysis detected a significant association between the ENPP1K121Q polymorphism and increased susceptibility of DKD in European and Asian populations.     

The ENPP1 K121Q polymorphism is not associated with type 2 diabetes and related metabolic traits in an Iranian population

The K121Q polymorphism of the ectoenzyme nucleotide pyrophosphate phosphodiesterase 1 (ENPP1) gene has been variably associated with insulin resistance and type 2 diabetes (T2D) in several populations. However, this association has not been studied in Iranian subjects and we hypothesized that the K121Q variant might be associated with T2D and related metabolic traits in this population. The K121Q genotypes were determined by PCR-restriction fragment length polymorphism in 377 normoglycemic controls and 155 T2D patients. T2D patients had significantly higher values for systolic and diastolic blood pressure, BMI, glucose, cholesterol, triglyceride, LDL, apoB, insulin, and HOMA-IR, and lower levels of HDL than the normoglycemic subjects. The frequency of the Q allele did not differ between T2D and normoglycemic subjects (OR 0.96, 95% CI 0.90-2.00, P?=?0.70). The Q allele frequency was 16.5% in T2D and 15.2% in normoglycemic subjects. The ENPP1 genotype (KQ?+?QQ) was not associated with the systolic and diastolic blood pressure, glucose, triglyceride, cholesterol, LDL-C and HDL-C, apo B, BMI, HOMA-IR, and insulin levels in both normoglycemic and T2D groups. Our results suggest that the ENPP1 121Q allele might not be associated with T2D and related metabolic traits among Iranian subjects.     

ENPP1/PC-1 K121Q polymorphism and genetic susceptibility to type 2 diabetes in North Indians

Genetic susceptibility may be responsible for high prevalence of type 2 diabetes worldwide. A common missense single nucleotide polymorphism, K121Q in the ectoenzyme nucleotide pyrophosphate phosphodiesterase (ENPP1) gene, has recently been associated with type 2 diabetes in Italian, South Indian, and American populations. The objective of this study was to investigate the possible role of K121Q polymorphism in ENPP1 gene with type 2 diabetes in North Indians. The genotype of the ENPP1/PC-1 K121Q polymorphism was determined using polymerase chain reaction-restriction fragment length polymorphism analysis for 328 T2DM patients and 326 non-diabetic participants. Anthropometric and clinical characteristics (Body mass index (BMI), glucose, total cholesterol, triglyceride, high-density lipoprotein cholesterol (HDL), Creatinine, HbA1c, and insulin levels) were measured using standard protocols. Their Chi-square analyses were used to test the significance differences in genotypic and allelic frequencies. Association studies were undertaken using the t test and logistic regression analyses. Our results revealed there was no significant difference in the genotypic distribution between T2DM patients and control subjects. The KK and KQ genotype frequencies were similar in T2DM cases and controls (60.7 and 39.3% in T2DM and 59.8 and 40.2% in controls). No subjects with the QQ genotype were found. Binary logistic regression analysis of data did not show any association of K121Q polymorphism with type 2 diabetes (OR; 0.97, 95% CI; 0.7–1.32, P = 0.82). No significant correlation among the BMI, WHR, BP, TG, TC, HDL-C, LDL-C, Glucose, HbA1c, Creatinine, and insulin indices (HOMA-IR) was observed in the individuals carrying KK and KQ genotypes. In conclusion, our results showed that ENPP1/PC-1 K121Q polymorphism is not associated with type 2 diabetes and related quantitative metabolic traits in North Indian Punjabi population.     

Gender differences in the relationship of ENPP1/PC-1 variants to obesity in a Turkish population

The ectoenzyme ENPP1 (also termed membrane glycoprotein PC-1 or ENPP1/PC-1) is an inhibitor of insulin-induced activation of the insulin receptor. There is evidence from previous studies that coding variants of ENPP1/PC-1 (K121Q) are associated with type 2 diabetes (T2D) and obesity. Studies in the general Turkish population have demonstrated: unique plasma lipid characteristics, a high prevalence of cardiovascular risk factors, and an increased prevalence of obesity and T2D. We investigated, therefore, the association of ENPP1/PC-1 variants with obesity and T2D in Turkish individuals. The TaqMan allelic discrimination assay was used for genotyping the relationship of ENPP1/PC-1 variants to obesity and T2D in a genetic association study of 1,553 genotyped, randomly selected subjects from the Turkish Heart Study. The K121Q (rs1044498) variant and other previously reported variants (rs997509, rs1799774, rs1044548, rs11964389, rs7754561) were analyzed. In this cohort, the minor allele frequency (MAF) of the K121Q variant was associated with obesity in male, but not in female subjects (male, odds ratio 1.64, 95% confidence interval 1.004-2.698, P = 0.048; female, odds ratio 1.003, 95% confidence interval 0.684-1.471, P = ns). In addition, the previously reported ENPP1/PC-1 "risk haplotype" (Q (rs1044498), delT (rs1799774), and G (rs7754561) alleles) was found to be associated with obesity in male, but not in female, subjects (P = 0.035). In contrast, there was no association of either the K121Q variant or the ENPP1/PC-1 haplotype with T2D. We find evidence that variants of ENPP1/PC-1 are associated with obesity in the male Turkish population; thus, these variants may contribute to the development of the obesity in these individuals.     

The Q121 variant of ENPP1 may protect from childhood overweight/obesity in the Italian population

Ectonucleotide Pyrophosphatase Phosphodiesterase 1 (ENPP1) downregulates insulin signaling by inhibiting the insulin receptor's tyrosine-kinase. K121Q and other ENPP1 single-nucleotide polymorphisms (SNPs), IVS20delT-11 and A/G+1044TGA, have been previously associated with obesity in French children, and the risk haplotype QdelTG has also been associated with this condition in both French and German children. Our aim was to perform a case-control replication study in order to assess the possible association of childhood obesity and overweight with the above-mentioned ENPP1 SNPs, and with the QdelTG haplotype, in the Italian population. A total of 865 healthy Italian children were studied: 453 normal-weight, 243 overweight and 169 obese subjects. Genotyping was performed by Taq-Man or Light-Cycler Technology. The Q variant of K121Q showed a negative association with overweight-obesity under both additive (odds ratio (OR) = 0.74, 95% confidence interval (CI) = 0.57-0.97, P = 0.030) and recessive (OR = 0.32, 95% CI = 0.10-0.97, P = 0.035) modes of inheritance. The Z-score of BMI showed a significant decreasing trend from children K/K homozygous to K/Q heterozygous, and to Q/Q homozygous (0.45 vs. 0.28 vs. -0.19; P = 0.009), according to the additive model. The two other SNPs and the QdelTG haplotype did not exhibit any association with overweight/obesity. This is the first child-based study showing a protective role of the 121Q variant of ENPP1 against overweight/obesity.     

Further evidence for the role of ENPP1 in obesity: association with morbid obesity in Finns

The aim of this study was to investigate a series of single-nucleotide polymorphisms (SNPs) in the genes MC2R, MC3R, MC4R, MC5R, POMC, and ENPP1 for association with obesity. Twenty-five SNPs (2-7 SNPs/gene) were genotyped in 246 Finns with extreme obesity (BMI > or = 40 kg/m2) and in 481 lean subjects (BMI 20-25 kg/m2). Of the obese subjects, 23% had concomitant type 2 diabetes. SNPs and SNP haplotypes were tested for association with obesity and type 2 diabetes. Allele frequencies differed between obese and lean subjects for two SNPs in the ENPP1 gene, rs1800949 (P = 0.006) and rs943003 (P = 0.0009). These SNPs are part of a haplotype (rs1800949 C-rs943003 A), which was observed more frequently in lean subjects compared to obese subjects (P = 0.0007). Weaker associations were detected between the SNPs rs1541276 in the MC5R, rs1926065 in the MC3R genes and obesity (P = 0.04 and P = 0.03, respectively), and between SNPs rs2236700 in the MC5R, rs2118404 in the POMC, rs943003 in the ENPP1 genes and type 2 diabetes (P = 0.03, P = 0.02 and P = 0.02, respectively); these associations did not, however, remain significant after correction for multiple testing. In conclusion, a previously unexplored ENPP1 haplotype composed of SNPs rs1800949 and rs943003 showed suggestive evidence for association with adult-onset morbid obesity in Finns. In this study, we did not find association between the frequently studied ENPP1 K121Q variant, nor SNPs in the MCR or POMC genes and obesity or type 2 diabetes.     

The K121Q polymorphism of the plasma cell glycoprotein-1 gene is not associated with diabetes mellitus type 2 in German Caucasians.

The K121Q polymorphism of the human plasma cell membrane glycoprotein 1 (PC-1) gene is known to be associated with diabetes mellitus type 2 in some populations studied, with contradictory results. The purpose of the present study was to examine a possible association between the presence of diabetes and the PC-1 K121Q polymorphism in a German Caucasian population. Associations between the polymorphism and various metabolic and anthropometric parameters were also examined. The presence of the K121Q variant was investigated using polymerase chain reaction restriction fragment-length polymorphism in 402 subjects with diabetes (231 men, 171 women, age 63+/-11 yrs, body mass index 28.7+/-5.1 kg/m2) and in 432 age- and sex-matched controls (247 men, 185 women, age 64+/-7 yrs, BMI 26.5+/-3.7 kg/m2). Ninety-seven subjects were carriers of the K121Q polymorphism in the control and 110 in the diabetic group (allelic frequency 11.9% and 14.7%, respectively, P=0.25). The polymorphism had no significant influence on the presence of atherosclerotic disease, body mass index, and blood pressure, both, in diabetics and in non-diabetic controls. Our data suggest that the K121Q polymorphism of the PC-1 gene is not associated with diabetes, obesity, hypertension or atherosclerosis in a German Caucasian population.     

The Q121/Q121 genotype of ENPP1/PC-1 is associated with lower BMI in non-diabetic whites

This study investigated the role of the ENPP1/PC-1 gene K121Q polymorphism in predicting BMI (kg/m2) in non-diabetic individuals. Three independent samples (n = 631, n = 304, and n = 505) of adult whites were analyzed. Selection criteria were fasting plasma glucose level <126 mg/dL, absence of severe obesity (BMI > or =40 kg/m2), and lack of treatment known to modulate BMI. In Sample 1, BMI values were different in individuals carrying the K121/K121 (KK), K121/Q121 (KQ), and Q121/Q121 (QQ) genotypes (25.5 +/- 4.3, 25.3 +/- 4.1, and 22.8 +/- 2.5 kg/m2, respectively (adjusted p = 0.022); BMI values in Samples 2 and 3 also tended to be different, although the differences, after adjustment for age and sex, did not reach statistical significance. When data were pooled, BMI values were 25.8 +/- 4.4, 25.6 +/- 4.4, and 23.6 +/- 3.3 kg/m2 in KK, KQ, and QQ individuals (adjusted p = 0.029). According to a recessive model, QQ individuals had lower BMI values than KK and KQ individuals combined (23.6 +/- 3.3 kg/m2 vs. 25.7 +/- 4.4 kg/m2; adjusted p = 0.008). These data suggest that the QQ genotype of the ENPP1/PC-1 gene is associated with lower BMI. If similar results are confirmed in prospective studies, the K121Q polymorphism may help identify people at risk for obesity.     

Quantitative assessment of the associations between four polymorphisms (FokI, ApaI, BsmI, TaqI) of vitamin D receptor gene and risk of diabetes mellitus

The vitamin D receptor (VDR) gene polymorphisms have been suggested to be involved in the development of diabetes mellitus, including type 1 diabetes (T1DM) and type 2 diabetes (T2DM). However, the results have been inconsistent. In this study, we performed a meta-analysis to investigate the associations. Literature was retrieved from PubMed, ISI Web of Science and Chinese databases. Pooled odds ratios (ORs) with 95?% confidence intervals (CIs) were calculated using a random or fixed effect model. 79 studies (FokI: 22 studies; BsmI: 25 studies; ApaI: 17 studies; TaqI: 15 studies) on T1DM and 44 studies (FokI: 10 studies; BsmI: 10 studies; ApaI: 14 studies; TaqI: 10 studies) on T2DM were included. The results indicated that BsmI polymorphism was associated with an increased risk of T1DM (B vs. b: OR 1.31, 95?% CI 1.10-1.55, P?=?0.002), especially in East Asians (B vs. b: OR 2.57, 95?% CI: 1.55-4.24, P?相似文献   

Analysis of Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Gene K121Q Polymorphism Association with Some Risk Factors of Atherosclerosis in Patients with Acute Coronary Syndrome

The present study was performed to investigate whether common single-nucleotide polymorphism K121Q (rs1044498) of the ENPP1 gene is associated with the known risk factors of atherosclerosis (overweight, dyslipoproteinemia, hypertension, diabetes, smoking, and hypercoagulability) in persons with acute coronary syndrome. Venous blood of 118 patients was genotyped for the polymorphism by PCR and restriction fragment length polymorphism method. In patients divided into two subgroups according to their genotype (KK and KQ + QQ), the statistically significant differences were revealed only for plasma LDL-cholesterol level and fibrinolytic activity. The carriers of minor allele (KQ + QQ) had lower LDL-cholesterol concentration and the time of fibrinolysis than the major allele homozygotes (KK). The division of patients into subgroups according to presence or absence of some risk factors for atherosclerosis showed no statistically significant differences between K121Q genotype distributions for any of the comparison.