Variation in IGHMBP2 is not associated with IgA nephropathy in independent studies of UK Caucasian and Chinese Han patients
Variation in IGHMBP2 is not associated with IgA nephropathy in independent studies of UK Caucasian and Chinese Han patients
复制标题
在针对英国白种人和中国汉族患者的独立研究中，IGHMBP2 的变异与 IgA 肾病无关
DOI：
10.1093/ndt/gfp661
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发表时间：
2010-05-01
影响因子：
6.1
通讯作者：
Maxwell, Patrick H.
中科院分区：
文献类型：
--
作者：
Lou, Tanqi;Zhang, Jun;Maxwell, Patrick H.
方法.在英国收集，单倍型标记（标签）单核苷酸多态性（SNP）和单倍型进行了分析，在病例对照研究（349例，605对照）和家庭为基础的分析（162个完整和23个部分完整的家庭三重奏），这是使用传输不平衡检验。同时，对663例伊加肾病患者和663例正常对照进行分析：对该基因的编码区和侧翼区进行亚组重测序，并对全部样本进行SNP和单倍型关联分析。在英国和中国人群中进行的病例对照研究以及在英国人群中进行的基于家族的检测均未提供IGHMBP 2变异与伊加肾病相关的证据。SNP G34448A的A等位基因不存在于英国收集。在中国人群中存在该基因，但与该病无关。IGHMBP2的变异并不赋予英国白人或中国汉族人群伊加肾病的显著易感性。
Methods. In the UK collection, haplotype-tagging (tag) single-nucleotide polymorphisms (SNPs) and haplotypes were analysed in a case-control study (349 cases, 605 controls) and family-based analysis (162 complete and 23 partially complete family trios), which was performed using the transmission disequilibrium test. In parallel, 663 cases of IgA nephropathy and 663 controls from a Chinese population were analysed: coding and flanking regions of the gene were re-sequenced in a subset, and SNP and haplotype association analysis was performed in the whole collection using the identified tagSNPs and all the coding and exonic flanking SNPs.Results. Case-control studies in UK and Chinese populations, and family-based tests in the UK population provided no evidence for association between variation in IGHMBP2 and IgA nephropathy. The A allele of SNP G34448A was not present in the UK collection. It was present but not associated with the disease in the Chinese population.Conclusion. Variation in IGHMBP2 does not confer significant susceptibility to IgA nephropathy in UK Caucasian or Chinese Han populations.