广西壮族人群骨桥蛋白基因的单核苷酸多态性研究

Single nucleotide polymorphisms research of osteopontin gene in Zhuang populations in Guangxi

目的分析骨桥蛋白基因单核苷酸多态性(SNP)位点rs11728697和rs9138的基因型和等位基因型在广西壮族人群中的分布频率,对比其在不同国家或地区人群间的分布差异。方法利用SNaPshot SNP分型技术检测150例广西壮族骨桥蛋白基因SNP位点rs11728697和rs9138的基因型,对比国际人类基因组单倍型图谱计划(HapMap)上4个人群(欧洲人群、非洲人群、日本人群和中国北京人群)的SNP分型数据,分析5个人群的骨桥蛋白基因SNP位点rs11728697和rs9138的基因型和等位基因频率差异。结果在广西壮族人群中,骨桥蛋白基因rs11728697位点的CC基因型最常见,约为42.7%;C等位基因的频率最高,约为62.7%。rs9138位点的CA基因型最常见,约为51.3%;C等位基因的频率最高,约为63.0%。骨桥蛋白基因型及等位基因频率男女组间比较差异无统计学意义(P>0.05)。广西壮族人群骨桥蛋白基因rs11728697位点的基因型和等位基因频率与欧洲人群、日本人群和非洲人群的差异有统计学意义(P<0.05),而与中国北京人群的差异无统计学意义(P>0.05)。广西壮族人群骨桥蛋白基因rs9138位点的基因型和等位基因频率与欧洲人群和非洲人群的差异有统计学意义(P<0.05),而与日本人群和中国北京人群的差异无统计学意义(P>0.05)。结论骨桥蛋白基因SNP位点rs11728697和rs9138基因型和等位基因在广西壮族人群中的分布频率与不同国家或地区人群相比存在差异,这种差异可能是导致某些疾病在不同国家或地区间发病率和临床表现存在差异的因素之一。

Objective To investigate the genotype and allele frequencies of osteopontin gene single nucleotide polymorphisms（SNP）rs11728697and rs9138 in Zhuang populations in Guangxi,and to compare the distribution of osteopontin polymorphisms among different races.Methods The osteopontin gene rs11728697 and rs9138polymorphisms were detected by SNaPshot SNP genotyping technique in 150 Zhuang populations in Guangxi,the genotype and allele frequencies of osteopontin gene rs11728697 and rs9138polymorphisms were analyzed in Zhuang populations compared with the other four populations（HapMap-CEU,HapMapYRI,HapMap-JPT,HapMap-HCB）from HapMap database.Results The most common genotype and allele of osteopontin gene rs11728697 polymorphism in Zhuang populations in Guangxi were CC（42.7%）and C（62.7%）,and the most common genotype and allele of osteopontin gene rs9138 polymorphism were CA（51.3%）and C（63.0%）.There were no significant differences in the genotype and allele frequencies of osteopontin gene rs11728697 and rs9138polymorphisms between male and female groups（P〉0.05）.The genotype and allele frequencies of osteopontin gene rs11728697 polymorphism were significantly differenct compared with HapMap-CEU,HapMap-JPT and HapMap-YRI（P〈0.05）,but were not significantly different compared with HapMap-HCB（P〉0.05）.The genotype and allele frequencies of osteopontin gene rs9138 polymorphism were significantly differenct compared with HapMap-CEU and HapMap-YRI（P〈0.05）,but had no significantly different compared with HapMap-JPT and HapMapHCB（P〈0.05）.Conclusion There are significant differences in the genotype and allele frequencies of osteopontin gene rs11728697 and rs9138polymorphisms between Zhuang populations and other ethnic populations,and this variation might contribute for a variety of clinical manifestation and morbidity of some osteopontin related diseases.