Analysis Of Association Between MtSNP 10398A/G And The Risk For Breast Cancer In Hunan Han Ethnic Group

Recent studies found that some mitochondrial DNA (mtDNA) single nucleotide polymorphisms (SNPs) were associated with different tumor susceptibility. Among them mtDNA single nucleotide polymorphism (mtSNP) 10398A / G is one of the characteristic polymorphisms identified in the two human mtDNA macro-haplogroups, M and N. Many reports indicate that it is related to the risk of breast cancer in women from Europe, Africa, and other regions. Based on different distributions of 10398A and 10398G alleles in different human race and geographic population, we first investigated the distribution of these two alleles in the Hunan Han ethnic group. The different breast cancer risk in the women of Han population containing different alleles was studied in breast cancer patients and controls. An amplification refractory mutation system (ARMS) was developed to identify individuals'mtDNA 10398A and G allele genotypes. Among 1562 general population in Hunan Province, there were 701 (44.9%) and 861 (55.1%) mtDNA 10398A and G genotypes, respectively, whereas in normal female control group, there were 219 (45.3%) and 265 (54.7%) allele genotypes, respectively, compared with 347 (38.7%) and 552 cases (61.3%), respectively, in breast cancer patients. The current work showed that:(1) mtDNA 10398G genotype was significantly higher in breast cancer group than that of normal controls(p= 0.019), indicating that 10398G allele genotype in the females of Hunan Han population might be a risk factor for breast cancer compared to 10398A genotype; (2)The frequencies of two alleles, mtDNA 10398A and G (-45% and -55%, respectively), in Hunan Han ethnic group are quite different with those in Europeans (-74% and 26%, respectively), Africans (-9% and -91%, respectively), and other Asian regions, such as Japanese (-29% and -71%, respectively). Thus, this study has provided useful mtDNA information in East Asian population to help understanding the migration and evolution of Han Chinese, but also to benefit further studies on the association of disease risk with local people as well.