北京汉族和西北欧洲后裔人群ROR2基因单核苷酸多态性比较研究  

Comparison of MAFs and haplotype frequencies for SNPs in the ROR2 gene of CHB and CEU

作　　者：赵凯平[1] 王红[1] 

机构地区：[1]北京大学公共卫生学院,北京100191

出　　处：《中国预防医学杂志》2011年第12期985-990,共6页Chinese Preventive Medicine

基　　金：美国国立卫生研究院国家牙科与颅面研究院基金(No.R21-DE-013707;R01-DE-014581);Fogarty基金(No.D43-TW006176)

摘　　要：目的分析比较北京汉族(CHB)和西北欧洲后裔人群(CEU)ROR2基因单核苷酸多态性(SNPs)和单体域的特征,为两人群病因学研究SNPs的确定和分析提供依据。方法用Haplov-iew软件对HapMapCHB和CEU人群ROR2基因SNPs数据进行分析和比较。结果 HapMap计划在CHB和CEU均测定的ROR2基因SNPs为396个,其中纯合基因型SNPs数目相同,均为102个(25.8%)。两人群206个共同合格SNPs中,189个(91.7%)微效等位基因相同,MAF差值相对比<20%的占39.2%。206个共同合格SNPs在CHB和CEU分别构建了18和14个单体域,两人群各有一个独立单体域,三个单体域在两人群完全重叠,其余在两人群部分重叠。两人群各自合格SNPs中确定了31个共同标签SNPs。结论 CHB和CEU人群ROR2基因SNPs在等位基因组成、MAF和单体域构成等方面共性和独特性并存。本研究为ROR2基因共性位点及单体域在合并人群的分析,以及特异位点及单体域在各自人群的单独分析提供了基础。Objective To provide scientific basis of single nucleotide polymorphism（SNPs） determination for ROR2 gene related etiologic studies in Han Chinese in Beijing（CHB） and Utah residents with Northern and Western European ancestry from the CEPH collection（CEU） populations.Methods SNPs in the ROR2 gene of CHB and CEU were analyzed and compared for minor allele frequencies（MAF）,haplotype blocks and haplotype frequencies by Haploview program.SNPs were screened for eligibility with the quality control criteria of genotyping call rate80%,HWE test P0.01,gender difference P0.05 and MAF0.01.Tag SNPs were determined with the criteria of r2≥0.8 and LOD≥3 for pairwised eligible SNPs.Common Tag SNPs in the populations of CHB and CEU were either directly analyzed by Haploview program or calculated by SPSS13.0 for those highly related independent tag SNPs.Results Among 396 genotyped SNPs in CHB and CEU,102（25.8%） were monotonic and common in both populations.The proportions of common eligible SNPs were 78.3%（206/263） and 75.2%（206/274） for the populations of CHB and CEU,respectively.Most common eligible SNPs had common minor alleles（189/206,91.7%） and of which,39.2% had MAF ratio difference20%.Among 18 and 14 haplotype blocks identified in 206 common eligible SNPs for CHB and CEU,one haplotype block each was independent,three haplotype blocks were common and the remaining 14 haplotype blocks in CHB were overlapped with the 10 haplotype blocks in CEU.A total of 31 common tag SNPs were determined for the populations of CHB（40.3%,31/77） and CEU（44.9%,31/69）.Conclusion SNPs in ROR2 gene had common and unique features in terms of allele,MAF,haplotype blocks and haplotype frequencies for CHB and CEU populations.

关 键 词：ROR2基因 MAF 单体型 HAPMAP Haploview 

分 类 号：R394.3[医药卫生—医学遗传学]