Association Between Estrogen Receptor α Gene Polymorphism And Type 2 Diabetes Mellitus

Diabetes mellitu is one of the common chronic and non-communicable disease in the world, among which the type 2 diabetes mellitus accounts for 95% of the total diabetes patients. So far there are 154 million T2DM patients around the world., and there are statistics showing that the number will rise to 300million in the year of 2025. Diabetes and its complication has increaingly become a social health issue worldwide. And a lot of cases have been found in our country. The disease not only does harm to the patients themselves, but also imposes heavy burden on families and society. Therefore, it is important to indentify the cause of the disease and develop useful treatment. Being a complex human disease, diabetes is an inherited and polygenic disease and it is subjected to environment. Now the most frequently used study mechanism for genetic diabetes is the meth of scanning the whole genes and candidate gene approach. Studies have shown gene ERαhas some conneciton with the formation and development of T2DM. A lot of studies have been conducted to learn the amount of bone mass and blood fat of T2DM in relation to ERα. And it has been varified that contributes to the healing of diabetes, while estrogen (E) can only be protective to the diabete patients in the process of regulation of metabolism when combined with estrogen receptor(ER), because E and ER together can contribute to the expression and activeness of proteins such as autocrine growth factor(tumor growth factorαand IGFI) signal conducting medium( insulin receptor substrates). As a result, it is very important for the study of ER and the exploration of T2DM's mechanism.This research chooses the T2DM patients of Han Group in North China as the objectives and the healthy people as the contrasts and uses the technology of PCR-RFLP to test on Erαgene the diversity of three SNP s, including rs11155816,rs2077647,rs9397463 . It makes use of the data software package SPSS13.0, Unphased 3.1.2, HaploView4.1 inherittance statistial software to analyse it accordingly. The goodness of fitχ2 will be adopted to test if the spreading of the genes of the samples matches the Hardy-Weinberg law.χ2 will be used to test the differences between the patient froup and the comparasion of their gene types and the frequency of their allelomorphs. And the relations between many positions will use Unphased3.1.2 appoach to deal with so as to discuss the connection between single nucleotide polymorphism and the sensitiveness of T2DM on these three sites of gene ERα.From the tests, we know that of patients group and comparasion both conform the Balance Principle (P>0.05). In the test of rs11155816, there are all together 128 2-type patients (male 63, female 65) and 193 healthy comparasions (male 103, female 90) tested of their SNP genes. And their gene frequency of Position A and Position G has little effct on the part of the statistics(χ2=0.036,P>0.05); the frequency of GG, G and AA type of genes has little statistical meaning between the patients group and comparasion group. (χ2=0.520,P>0.05); In the test of rs2077647, there are all together 128 2-type patients (male 63, female 65) and 183 healthy comparasions (male 98, female 85) tested of their SNP genes. the frequency of T and C type genes between the patients group and comparasion group on the same position has little statistical meaning. (χ2=1.072,P>0.05) .And their gene frequency of TT, TC, CC has little effct on the part of the statistics(χ2=1.072,P>0.05). In the test of rs2077647, there are all together 115 2-type patients (male 56, female 59) and 171 healthy comparasions (male 91 female 80) tested of their SNP genes; the frequency of T and C type genes between the patients group and comparasion group on the same position has little statistical meaning. (χ2=1.438,P>0.05) And their gene frequency of TT, TC, CC has little effct on the part of the statistics(χ2=1.430,P>0.05). The result of analysing haplotype shows that the four unbalanced areas on gene ERα, rs11155816~rs2077647(LD1),rs11155816~rs9397463(LD2),rs2077647~rs9397463(LD3),rs11155816~rs2077647~rs9397463(LD4)has little statistic meaning on the difference between patient group and comparasion group.In sum, this research does not show there is a connection between single nucleotide-polymorphism and T2DM, or between multi-locus united analysis and T2DM.And the results show that rs11155816,rs2077647,rs9397463 on gene ERα, may have nothing to do with the occurrence of T2DM among the Noth China population. Although the results are negative, it can't exclude the possibility of the connection between SNP3 and E2DM. In future researches, more samples are needed, and more SNP positions are to be chosen in various areas and among different ethnic groups of people.