Polymorphism Distribution Of SLC22A1 Rs12208357 In Healthy Uygur Population Of Xinjiang

Objective: The aim of this study is to establish the allele and genotype frequency of rs12208357 single nucleotide polymorphism in ATM gene of Uygur people in Xinjiang,China.Materials and Methods: 276 healthy Uygur male university students from Xinjiang Medical University were recruited and assigned into the positive and negative groups according to the family history of diabetes mellitus.Peripheral blood was collected for DNA genotyping.Results: The genotypes of rs12208357 in Xinjiang Uygur population were CC(94.9%,n=262),CT(4.7%,n=13)and TT(0.4%,n=1),respectively.The gene frequencies of the alleles C and T were 97.3% and 2.7%.The family history of diabetes mellitus exerted no significant effect upon the mutation of this site.Compared with other ethnic groups,the mutation rate was significantly higher compared with those of the Chinese in Beijing,the Han Chinese in the South China,the Yi ethnic group in Xishuangbanna,Yunnan,the Japanese in Tokyo,the Yoruba in Nigeria,the Vietnamese in Southeast Asia,theLuhyas in Kenya,Mendians in Sierra Leone,Caucasians and Asians(all P<0.05),whereas it did not significantly differ from those of the Africans on Barbados in the Caribbean Sea,African-Americans in the southwestern United States,Mexicans in Los Angeles,Finns and the Britons in the United Kingdom and Kingdom of Scotland(all P>0.05).Conclusion: Our research showed there are three mutation of rs12208357 in Urgur people,and the mutation rate is higher to other enthic lines.It is suggested that this locus can be used as a target for the follow-up genetic pharmacology research of metformin.