| Type 2 diabetes mellitus (T2DM) and Coronary heart disease (CHD) are two complex disorders caused by multiple genetic and environmental factors. Genetic fators can decide and impact plasma tyiglyceride levels. More and more patients of T2DM or CHD come out, with the result that the standard of living changes better. Many epidemiological studies or reviews have demonstrated that dyslipidemia is a clinical feature of T2DM, in addition, it was also associated with heterogeneity of the onset and severity of CHD.In 2001, the American scientist named Steppan et al. reported they discovered resistin gene. Resistin is a hormone secreted by adipocytes and it is also called adipose tissue-specific secretory factor (ADSF). Resistin has been found to increase insulin resistance, blood glucose values, dyslipidemia.In post-genomic era, studies on association of sequence variation with phenotype are the main subject of medical genetics. Single nucleotide polymorphisms (SNPs), the third-generation genetic marker, possess the characteristic of large numbers and dispersed distribution. As SNP is bi-allelic polymorphism, it is possible to be detected easily and analyzed with largely scale. Association study based on population level may find the possible SNP and/or haplotype associated with the complex and multiple genetic diseases. They are of importance for clarifying the genetic pathology of some polygenetic inheritance disease.To study the distribution of resistin gene SNPs in Chinese Sichuan Han population and the association of the polymorphism with T2DM and CHD, we examed the distribution of resistin gene SNPs in Chineses patients with T2DM/CHD, and controls. In addition, we screen the unknown polymorphisms using denaturing high performance liquid chromatography (DHPLC).Firstly, we analyzed the genotype and allele frequencies of resistin gene SNP -394C>G by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)in 318 T2DM patients,173 CHD patients and 270 unrelated healthy control individuals. The frequencies of minor allele G in T2DM group, CHD group and control group were 0.3066, 0.3555 and 0.3481, respectively, which are meeted with the Hardy-Weinberg equilibrium. Compared with controls, there was no significant difference in distribution of genotype and allele frequencies of -394C>G polymorphic site in T2DM patients and CHD patients, respectively. Our result is close to the findings Hua W researched in Caucasians. However, in T2DM patients, CC genotype individuals exhibited a significant higher in the level of high density lipoprotein-cholesterol (HDL-C), compared with GC genotype individuals (P<0.05).On the contrary, in control patients, CC genotype individuals exhibited a significant lower in the level of HDL-C, compared with GC genotype individuals (P<0.05)as well as no significant difference of that in CHD patients. No direct association was found between the -394C>G polymorphism and T2DM or CHD, but there is a significant difference of the comparison of sex in T2DM group of resistin gene SNP-394C>G (P<0.05).We also analyzed the genotype and allele frequencies of resistin gene SNP -420C>G by PCR-RFLP in 227 T2DM patients,153 CHD patients and 241 unrelated healthy control individuals. The frequencies of minor allele G in T2DM group, CHD group and control group were 0.4009, 0.3725 and 0.3859, respectively, which are meeted with the Hardy-Weinberg equilibrium. Compared with controls, there was no significant difference in distribution of genotype and allele frequencies of -420C>G polymorphic site in T2DM patients and CHD patients, respectively. However, our result is so close to the one of Dongyan found in east China and the one of Cho found in Korea. In addition, the frequencies of G allele in T2DM groups and control groups of Chinese population are significantly different from those in European population (0.40vs0.27,0.39vs0.26) (P<0.01). No direct association was found between the -420C>G polymorphism and T2DM or CHD.In addition, we found two new potential SNPs,ï¹¢585C>T andï¹¢593G>C, in exon 3 of resistin gene using DHPLC.
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