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[Summary] The genotypes of rs6832151 in the 4p14 were genotyped by Taqman probe technique on FluidigmEPl platform in 617 patients with Graves′disease( GD) and 4 915 health control subjects. The result showed thatRs6832151 Gin4p14wasstronglyassociatedwithGD(OR=1.39,P0. 05). The result suggests that rs6832151 G in 4p14 is the susceptibility genes of Graves′ disease in Bengbu population, and is related to the high risk of GD.
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Thyroid hormones play major roles in the regulation of a wide range of metabolie and physiologic processes.Serum thyroid-stimulating hormone( TSH ) concentration,a sensitive barometer of thyroid function,shows significant individual difference in which genetic variation is a major factor.After using traditional genetic linkage studies and candidate gene association studies to explore the suseeptibility genes of serum TSH,many progresses have been made and new susceptibility genes have been identified by genome-wide association study (GWAS).In this review,we focus on the susceptibility genes of serum TSH levels and also the future prospect that may be obtained from these studies.
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To evaluate the association of ealpain-10 gene UCSNP-43 polyorphism with type 2 diabetes in Chinese Han population.Meta-analysis showed that calpain-10 gene UCSNP-43 polymorphism may be associated with type 2 diabetes in Chinese Han population.Allele G and genotypo GG may be risk factors for type 2 diabetes,while allele A and genotype GA may be the protective factors.
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Objective To assess the association between the amino acid polymorphism (Arg64Gln)within the interferon-γ receptor 2 gene (IFN-γR2) and psoriasis vulgaris in Chinese Hans. Methods Blood samples were collected from 182 patients with psoriasis vulgaris and 114 healthy human controls in Jiangsu and Anhui provinces. The amino acid polymorphism (Arg64Gin) within the IFN- γR2 was examined by PCR-restriction fragment length polymorphism (RFLP) and DNA sequencing. Results No significant difference was observed in the amino acid polymorphism (Arg64GIn) within the IFN-γR2 between the psoriatic patients and healthy controls (P > 0.05 ). There was a significant difference between patients with nail involvement and those without in the frequency of Gln64/Gln64 genotype (57.5% vs 38.1%, X~2= 5.33, P < 0.05),andArg64 (Gln64)allele [19.3% (80.7%)vs30% (70%), X~2=5.03, P < 0.05]. The frequencies of Gln64/Arg64 genotype and Gln64/Gln64 genotype in psoriatic patients with nail involvement significantly differed from those in the controls (29.8% vs 49.1%,X~2 = 5.48, P < 0.05; 57.5% vs 35.1%, X~2= 6.23, P <0.05 ), while no significant difference was found between the psoriatic patients without nail involvement and controls. Moreover, significant difference was noted between patients with prior upper respiratory tract infection (as inducements) and those without in the frequency of Arg64/Arg64 genotype (33.3% vs 15.5%, X~2 =4.94, P < 0.05) and Gln64 (Arg64) allele [51.9% (48.1%) vs 35.2% (64.8%), X~2= 5.46, P < 0.05]. Condusion The amino acid polymorphism (Arg64Gln) within the IFN-γR2 may be associated with the nail involvement and upper respiratory tract infection in patients with psoriasis vulgaris.
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Objective To evaluate the association of apM1 gene single nucleotide polymorphisms (SNP) with type 2 diabetes mellitus in Chinese population. Methods Odds ratios (OR) of apM1 gene SNP distribution were analyzed. The Meta-analysis software (RevMan 4.3.1) was employed for summarizing the studies,calculating the pooled OR and its 95% CI and testing the overall effects. Egger's test and fail-safe number for P=0.05 (Nfs<,0.05>) were performed for evaluating the publication bias. The sensitivity analysis by different effect models and sample sizes were employed for the reliability of Meta-analysis. Results Nine literatures were obtained, apM1 gene SNP45 showed remarkable heterogeneity among the studies (P<0.10). Sub-group analysis revealed that the discrepancy based on southern Chinese individuals was the main source of the total heterogeneity.The distribution frequencies of apM1 gene SNP45G, SNP45GG, SNP276G and SNP276GG were significantly higher in Chinese type 2 diabetes mellitus group than those in NGT group (P<0.05). Their pooled OR and 95% C/were 1.50[1.12,2.02], 2.15[1.53, 3.02],1.23[1.03, 1.46] and 1.26[1.00,1.59], respectively (all P<0.05). The distribution of apM1 gene SNP45TG and SNP276GT between type 2 diabetes mellitus and normal glucose tolerance group revealed no difference among these studies. The results of publication bias diagnostics and sensitivity analysis accounted for the reliability and stability of this Meta-analysis. Conclusion apM1 gene SNPs are strongly associated with type 2 diabetes mellitus in Chinese population. SNP45G and SNP276G seem to be risk factors for type 2 diabetes mellitus.
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Objective To identify the genetic variants of WNK4(with no K=lysine kinase)gene in Kazak population in Xinjiang province,to determine whether the WNK4 gene intron 10 polymorphism iS associated with essential hypertension(EH)and to investigate the distribution of genotype and allele frequencies of WNK4 gene. Methods One hundred and ninety-one patients with EH and 173 normal blood pressure controls were included in the study to assess the contribution of polymorphism of WNK4.Direct DNA sequencing was performed to identify the single nucleotide polymorphism(SNP)in 16 SUbjects with EH and 16 subjects of normotension(NT).Then the polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)method was used for the detection of WNK4 genotype. Results One SNP located in the 10 intron of WNK4 (1156666 base of chromosome 17)was found in the Kazak population.The genotypes of the variants were found to be in Hardy-Weinberg equilibrium.GG,AG,AA genotypes were 88.0%,11.0 oA,1.0%in the EH group and 91.9%,8.1%,0%in the NT group,respectively.The frequencies of genotype and allele in EH group were not significantly different from NT group in Kazak population.Conclusions It suggests that the intron 10 polymorphism of WNK4 gene might be not associated with hypertension in Kazak population.
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Objective To investigate the association of activating transcription factor 6(ATF6)gene Ala145Pro(GCG→CCG)variant with glucose and lipid metabolism in Chinese.Methods The genotypes were determined by PCR-RFLP in 689 Chinese in Shanghai.Among them,361 subjects showed normal glucose regulation,250 cases were newly-diagnosed diabetic patients without taking any drug and 78 cases were probands of early-onset type 2 diabetes pedigrees.The following phenotypes were measured:body height and weight to calculate BMI;waist,hip and femoral circumference to calculate waist-to-hip ratio and waist-to-femoral ratio;blood pressure;plasma glucose levels obtained at 0 and 120 minute during 75 g oral glucose tolerance test;fasting serum lipid profile including total cholesterol,triglyceride,high density lipoprotein-cholesterol and low density lipoprotein-cholesterol;body fat percentage and distribution.Results(1)The frequency of C allele is significantly lower in probands from early-onset type 2 diabetes patients compared with subjects with normal glucose regulation(P=0.035).(2)In subjects with normal glucose regulation,the CC+CG genotype had a significantly lower level of high density lipoprotein cholesterol as compared with GG genotype(P=0.014).(3)In type 2 diabetic patients,the CC+CG genotype had a significantly higher level of low density lipoprotein-cholesterol as compared with GG genotype(P=0.041).Conclusion These findings suggest that variant of ATF6 plays a role in glucose and lipid metabolism in Chinese.