目的:在中国和欧洲人群中比较IgA肾病易感基因遗传多态性的种族差异。方法:检索欧洲人群中已报道的IgA肾病易感基因遗传位点,验证其在中国人群(1 194例患者和902例对照)中的关联性,比较两个人群中显著相关位点的危险等位基因型及其基因...目的:在中国和欧洲人群中比较IgA肾病易感基因遗传多态性的种族差异。方法:检索欧洲人群中已报道的IgA肾病易感基因遗传位点,验证其在中国人群(1 194例患者和902例对照)中的关联性,比较两个人群中显著相关位点的危险等位基因型及其基因型频率、效应 OR 值、人群归因风险百分比之间的差异。利用所有相关位点计算遗传危险度评分,比较其在亚欧人群中的分布,分析其与临床表型的关联。结果:共有11个遗传座位上16个独立相关遗传位点与欧洲人群中IgA肾病的遗传易感性显著相关。93.75%(15/16)欧洲人相关遗传位点在中国人群中得到独立验证( P <0.05),且危险等位基因型在两个人群中一致。与欧洲人群相比,中国人群遗传位点拥有更高的危险等位基因型频率( P =3.09×10^-2 )、 OR 值( P =1.94×10^-2 )和人群归因风险百分比( P =3.03×10^-4 )。中国人群IgA肾病患者与健康对照、东亚人群与欧洲人群相比遗传危险度评分更高( P 值分别为3.60×10^-27 和 1.78 ×10^-163 ),东亚人群和欧洲人群各亚组之间差异无统计学意义。研究人群中IgA肾病遗传危险度评分与血浆IgA1水平、慢性肾脏病(chronic kidney disease,CKD)分期和Hass分级显著相关。结论: IgA肾病相关易感基因在欧洲人群和中国人群相似,中国人群有更高遗传风险,提示亚洲人群中IgA肾病高患病率具有遗传基础。展开更多
Background A previous study has shown that rs548234 polymorphism at PRDM1-ATG5 region is associated with rheumatoid arthritis （RA） in Caucasian populations. The aim of this study was to investigate the effect of rs5...Background A previous study has shown that rs548234 polymorphism at PRDM1-ATG5 region is associated with rheumatoid arthritis （RA） in Caucasian populations. The aim of this study was to investigate the effect of rs548234 polymorphism at PRDM1-ATG5 region on susceptibility to RA in Chinese Han population. Methods We genotyped 848 RA patients and 1431 matched healthy controls for rs548234 single-nucleotide polymorphism （SNP） with a predesigned TaqMan SNP genotyping assay. Association analyses were performed on the whole data set and on rheumatoid factors （RF） and anti-cyclic citrullinated peptides （anti-CCP） antibody. Finally, we carried out combined analysis of rs548234 association with RA based on the published data. Results No significant difference in the genotype distribution between RA patients and healthy controls for rs548234 （C/T） polymorphism was found in Chinese Han population, neither in whole data set nor in stratified subsets, e.g. RF and anti-CCP status. Association analysis in different ethnic groups showed that rs548234 at PRDM1-ATG5 region was associated with RA in Caucasian ancestry but not in East Asian population. Conclusions Our results showed no involvement of rs548234 at PRDM1-ATG5 region in the susceptibility or clinical relevance of RA in Chinese Han population.展开更多
文摘目的:在中国和欧洲人群中比较IgA肾病易感基因遗传多态性的种族差异。方法:检索欧洲人群中已报道的IgA肾病易感基因遗传位点,验证其在中国人群(1 194例患者和902例对照)中的关联性,比较两个人群中显著相关位点的危险等位基因型及其基因型频率、效应 OR 值、人群归因风险百分比之间的差异。利用所有相关位点计算遗传危险度评分,比较其在亚欧人群中的分布,分析其与临床表型的关联。结果:共有11个遗传座位上16个独立相关遗传位点与欧洲人群中IgA肾病的遗传易感性显著相关。93.75%(15/16)欧洲人相关遗传位点在中国人群中得到独立验证( P <0.05),且危险等位基因型在两个人群中一致。与欧洲人群相比,中国人群遗传位点拥有更高的危险等位基因型频率( P =3.09×10^-2 )、 OR 值( P =1.94×10^-2 )和人群归因风险百分比( P =3.03×10^-4 )。中国人群IgA肾病患者与健康对照、东亚人群与欧洲人群相比遗传危险度评分更高( P 值分别为3.60×10^-27 和 1.78 ×10^-163 ),东亚人群和欧洲人群各亚组之间差异无统计学意义。研究人群中IgA肾病遗传危险度评分与血浆IgA1水平、慢性肾脏病(chronic kidney disease,CKD)分期和Hass分级显著相关。结论: IgA肾病相关易感基因在欧洲人群和中国人群相似,中国人群有更高遗传风险,提示亚洲人群中IgA肾病高患病率具有遗传基础。
基金This work was supported by grants from the Major State Basic Research Development Program of China （973 Program） （No. 2010CB529100） and Key Program of the National Natural Science Foundation of China （No. 81030057）.
文摘Background A previous study has shown that rs548234 polymorphism at PRDM1-ATG5 region is associated with rheumatoid arthritis （RA） in Caucasian populations. The aim of this study was to investigate the effect of rs548234 polymorphism at PRDM1-ATG5 region on susceptibility to RA in Chinese Han population. Methods We genotyped 848 RA patients and 1431 matched healthy controls for rs548234 single-nucleotide polymorphism （SNP） with a predesigned TaqMan SNP genotyping assay. Association analyses were performed on the whole data set and on rheumatoid factors （RF） and anti-cyclic citrullinated peptides （anti-CCP） antibody. Finally, we carried out combined analysis of rs548234 association with RA based on the published data. Results No significant difference in the genotype distribution between RA patients and healthy controls for rs548234 （C/T） polymorphism was found in Chinese Han population, neither in whole data set nor in stratified subsets, e.g. RF and anti-CCP status. Association analysis in different ethnic groups showed that rs548234 at PRDM1-ATG5 region was associated with RA in Caucasian ancestry but not in East Asian population. Conclusions Our results showed no involvement of rs548234 at PRDM1-ATG5 region in the susceptibility or clinical relevance of RA in Chinese Han population.
