Study Of3Molecuiar Anthropologic Markers Among Chinese People From Northwest China

Background:Among so many anthropologic polygenetic trait, human height is a highly heritable, classic polygenetic trait. Identification of height-related genes is a hot spot in genetic study. Speech is a form of auditory-guided, learned vocal motor behaviour that evolved in mammals and certain species of birds. Myopia is the highest eye disease, which has increasingly prevailed a lot recent years. Recently, the application of large-scale genome-wide association (GWAS) approach has made tremendous improvement in this aspect: scientists identified a subset of polymorphisms associated with human stature variation in Caucasian; the polymorphism of FOXP2is related with KE family disease (a language disorder), and the polymorphism of RASGRF1is related with myopia. However, few reports on this issue were published in Chinese people, which is evidently differs from Caucasian in genetic background. The associations of height-related genes, FOXP2and RASGRF1polymorphisms with high stature, different languages and myopia in northwest China remain elusive. The aim of our study is to select a subset of genes identified in previous GWAS studies and test their genotypes in Chinese people from northwest China, and to determine whether the correlation between the3phenotypes and the polymorphisms of the selected genes are universal or ethnic specific.Methods:In high stature aspect, selected6genes from the result of GWAS, used PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) assay in534(315of male and219of female) healthy over adult individuals which were randomly investigated in northwest of China. In language aspect, selected a tagSNP-rs9640758of FOXP2and tested it’s genotype in462males of Han and327males of Dongxiang. In myopia aspect, selected a tagSNP-rs16970495of RASGRF1and tested it’s genotype in205males of Han in northwest of China. Genotype and allele distributions were analyzed in inheritance of quantitative character study and case-control study to determine whether the correlation between the3phenotypes and gene polymorphisms.Results: In high stature aspect, the result indicted that CDK’s rs2282978was not significant associated with individual’s height in three ethnic groups, however, BMP-2’s rs967417, NOG’s rs4794665, and DYM’s rs8099594(P<0.05) were significant correlated with individual’s height in three ethnic groups. Remarkably, these three SNPs are also implicated in skeletal dysplasia syndromes. Besides, ZBTB38’s rs36440003was also significant correlated with individual’s height in three ethnic groups. Together, these SNPs accounted for approximately4.88%of the height variation in Chinese people from northwest China.ITM2A’s rs1474563was significant correlated with individual’s height in male group.In language aspect, A/A、A/G and G/G for rs964075were significantly different between Han and Dongxiang (p<0.05).In myopia aspect, the result of ANOVA test shows that RASGRF1’s rs16970495has little related with the myopia in the Northwest of Chinese population(P>0.05).Conclusion:In high stature aspect: Our data strongly suggested that the three SNPs identified in the present work may generally associate with the height trait in Chinese population. C type for rs967417, G type for rs4794665and G type for rs8099594were associated with high stature in Chinese northwest population.In language aspect, these findings suggested genetic polymorphisms of rs964075identified in our study may affect language variations in northwest of Chinese population.In myopia aspect, rs16970495of the RASGRF1gene had no significant effect on the myopia in the Northwest of Chinese population.