北京汉族人群ROR2基因SNPs等位基因及单体型频率研究

MAF and haplotype frequencies of 404 SNPs in ROR2 gene in Han Chinese in Beijing

目的为病因学研究中ROR2基因SNPs的确定和分析提供依据。方法利用Hap loview软件对HapM ap数据库中北京汉族人群(CHB)ROR2基因SNPs基因型数据进行分析。结果和讨论ROR2基因404个SNPs中,103个(25.5%)SNPs为纯合基因型,在中国人群中进行研究时,应避免选择这些SNPs作为遗传标记。263个合格SNPs中,MAF高于10%的SNPs为189个,占71.9%,有足够的标记可供选择。利用263个合格SNPs,本研究共确定77个标签SNPs,构建了5个单体域,各单体域均以前两种单体型为主,累计频率在68.1%-92.3%之间。结论对北京汉族人群ROR2基因SNPs数据进行的全面分析,为该人群中基因与相关疾病的病因学研究打下了基础,也为其它基因的初步研究提供了方法。

Objective：SNPs screening for etiologic studies involving ROR2 gene.Methods： SNPs in ROR2 gene were analyzed using CHB data from HapMap by Haploview program.Results and Discussion： Among the 404 SNPs genotyped in ROR2 gene,a total of 263 SNPs have passed our quality control criteria（Genotyping call rate80%,MAF1%,HWE test P0.01 and gender difference P0.05）.The number of SNPs dropped due to MAF=0 were 103（25.5%） and these SNPs should be avoided in SNPs selection in ROR2 gene related studies that will be conducted in Chinese population.Seventy two percent（189） of the 263 eligible SNPs have MAF greater than 10% providing a rich resource for etiologic studies.Seventy seven tagging SNPs were identified in 263 eligible SNPs with five haplotype blocks identified.The frequencies for the top two haplotypes among each of the five haplotype blocks were between 68.1% and 92.3%.Conclusion： Our analysis of SNPs in ROR2 gene provided clues for future studies involving this gene and primary method for studying other genes as well.