Polymorphism of Transcription Factor 7-Like 2 in Obese Patients with Type 2 Diabetes Mellitus

Objective: The article is to investigate the relationship between the polymorphism of transcription factor 7-like 2 (TCF7L2) gene rs7903146 and type 2 diabetes mellitus with obesity in Chinese Han population. Methods: 216 patients with type 2 diabetes mellitus (T2DM), 92 males, 124 females, 194 normal controls, 89 males and 105 females. The polymorphism of TCF7L2 gene rs7903146 was measured by PCR-RFLP. PCR amplifier was used for amplification reaction, followed by polymorphism analysis of TCF7L2 gene: the reaction system was 20 μl, among which restriction endonuclease was 0.5 μl and PCR product was 7.5 μl. Restriction enzyme SspI (Fermentas) was used for PCR product and was bathed at 37°C for 16 h. The enzyme digestion products were detected and genotypes were identified by 2% agarose gel electrophoresis. The genotyping was repeated in 10% of the samples, and the genotyping rate was 100%. Height and weight were measured and BMI calculated. According to BMI, the experimental group was further divided into the obese group (n = 137, BMI > 25 kg/m2) and the normal body mass group (n = 79, BMI < 25 kgm2). Normal control group: BMI < 25 kgm2: FBG < 6.1 mmol/L and 2 h BG < 7.8 mmol/L after meal. Finally, SPSS18.0 software was used for analysis. Results: FBG, 2 h BG, FIN and Lg homa-ir showed significant differences between the control group and the T2DM groups (P < 0.01), while no statistical difference was found between the other parameters (P > 0.05). There was a significant difference in genotype frequency between the control group and the experimental group (χ2 = 17.382, P < 0.001), but no significant difference in allele frequency between the control group and the T2DM group (P > 0.05). Genotype frequency at BMI level was significantly different between the control group and the T2DM group (χ2 = 20.427, P = 0.001), but there was no significant difference in allele frequency distribution (P > 0.05). The TT type and TC + CC type were significantly different between the T2DM group and the control group (χ2 = 78.154, P = 0.006) and the T2DM obesity group and the control group (χ2 = 7.247, P = 0.009), but there was no significant difference between the T2DM normal body mass group and the control group (P > 0.05). In addition, there was no significant difference between TC type + TT type and CC type between the T2DM group and the control group and the T2DM obesity group and the control group (P > 0.05). Conclusion: There were significant differences in the genotype frequency and recessive inheritance pattern (TT/CC + TC) of rs7903146, suggesting that this SNP may be associated with the incidence of T2DM in obesity and insulin resistance.

DCDC2 gene polymorphisms are associated with developmental dyslexia in Chinese Uyghur children

Developmental dyslexia is a complex reading and writing disorder with strong genetic components. In previous genetic studies about dyslexia, a number of candidate genes have been identified. These include DCDC2, which has repeatedly been associated with developmental dyslexia in various European and American populations. However, data regarding this relationship are varied according to population. The Uyghur people of China represent a Eurasian population with an interesting genetic profile. Thus, this group may provide useful information about the association between DCDC2 gene polymorphisms and dyslexia. In the current study, we examined genetic data from 392 Uyghur children aged 8–12 years old from the Xinjiang Uyghur Autonomous Region of China. Participants included 196 children with dyslexia and 196 grade-, age-, and gender-matched controls. DNA was isolated from oral mucosal cell samples and fourteen single nucleotide polymorphisms（rs6456593, rs1419228, rs34647318, rs9467075, rs793862, rs9295619, rs807701, rs807724, rs2274305, rs7765678, rs4599626, rs6922023, rs3765502, and rs1087266） in DCDC2 were screened via the SNPscan method. We compared SNP frequencies in five models（Codominant, Dominant, Recessive, Heterozygote advantage, and Allele） between the two groups by means of the chi-squared test. A single-locus analysis indicated that, with regard to the allele frequency of these polymorphisms, three SNPs（rs807724, rs2274305, and rs4599626） were associated with dyslexia. rs9467075 and rs2274305 displayed significant associations with developmental dyslexia under the dominant model. rs6456593 and rs6922023 were significantly associated with developmental dyslexia under the dominant model and in the heterozygous genotype. Additionally, we discovered that the T-G-C-T of the four-marker haplotype（rs9295619-rs807701-rs807724-rs2274305） and the T-A of the two-marker haplotype（rs3765502-1087266） were significantly different between cases and controls. Thus, we conclude that DCDC2 gene polymorphisms are associated with developmental dyslexia in Chinese Uyghur children.

The Study of Apolipoprotein B Gene Polymorphisms by Polymerase Chain Reaction.

Two polymorphic sites of apolipoprotein B（apoB） gene-Xbal and EcoRI were examined in a sample of 103 patients with documented coronary heart disease （CHD） and 100 healthy individuals. It was demonstrated: （1） The frequencies of rare Xallele （presence of Xbal cutting site） and E-allele （absence of cutting site） were significantly higher in CHD patients than those in controls. It was suggested that these genetic variations were associated with CHD. （2） The patients with genotype of XXhad significantly lower

An association study of protein tyrosine phosphatase receptor type R gene polymorphism and the resting-state functional magnetic resonance imaging in major depressive disorder

Objective To explore the influence of a polymorphism of protein tyrosine phosphatase receptor type R(PTPRR)gene rs1513105 on abnormal brain activities in resting-state patients with major depressive disorder(MDD)using the gene-imaging technology.Methods 54MDD and 43 gender-,age-,and education-matched con-

Genome-wide Association Study on Susceptibility Genes Associated with Yang-Deficiency Constitution:A Small Sample Case-Control Study

Objective： To explore susceptibility genes associated with yang-deficiency constitution using single nucleotide polymorphism （SNP） genotyping. Methods： Based on an epidemiological survey, 30 volunteers with yang-deficiency constitution and 30 volunteers with a balanced constitution were included according to the Classification and Determination Standards of Constitutions in Traditional Chinese Medicine. Peripheral blood was collected and DNA was extracted from white blood cells. A genome-wide association study （GWAS） was conducted by SNP 6.0 genotyping at the Beijing Capital Bio Corporation Ltd. A minimum association P-value （Fisher＇s exact value） of less than 104 in the allele, genotype, dominant, and recessive models served as the standard for significant association of SNP with yang-deficiency constitution. Results： Among the four genetic models, a total of 42 SNPs were significantly associated with yang-deficiency constitution （Fisher＇s exact P-values 〈10^4）. These SNPs were adjacent to more than 20 genes, including RGS6, mGluR5, GAPDHL19, and II〈ZF1. Conclusions： Yang-deficiency constitution exhibits the characteristics of polygenic inheritance. This pilot study suggests that the polymorphisms in RGS6, mGluR5, GAPDHL19, and IKZF1 are associated with changes in cyclic adenosine monophosphate and cyclic guanosine monophosphate levels, memory, metabolic energy status, and immune function, respectively in people with yang-deficiency constitution.