Renal Division, Peking University First Hospital, Peking University Institute of Nephrology, and Key Laboratory of Renal Disease, Ministry of Health of China, Beijing, 100034, People's Republic of China.
Nephrol Dial Transplant. 2010 Jan;25(1):97-101. doi: 10.1093/ndt/gfp374. Epub 2009 Jul 29.
The Fcgamma receptors play important roles in anti-glomerular basement membrane antibody disease (anti-GBM disease) in animal models, and FCGR gene polymorphisms have been reported to be associated with numerous human autoimmune diseases. We aimed to clarify the genetic association of FCGR gene polymorphisms with anti-GBM disease in Chinese patients.
A total of 48 patients with anti-GBM disease and 225 geographically and ethnically matched healthy controls were involved. Genotyping of the previously identified polymorphisms FCGR2A131H/R (rs1801274), FCGR2B 232I/T (rs1050501) and FCGR3A176F/V (rs396991) were detected by the TaqMan genotyping assay and FCGR3B NA1/2 by the PCR-sequence specific primer (SSP). Allele type, genotype and haplotype of identified polymorphisms were analysed between patients and controls.
Our results revealed that FCGR2A131H/R, FCGR3A176F/V and FCGR3B NA1/2 were not associated with anti-GBM disease. The frequency of the FCGR2B 232T allele (30.2% versus 15.6%, corrected P = 0.00028, 95% CI: 1.42-3.89) and genotypes of I232T (60.4% versus 31.1%, corrected P = 0.0004, 95% CI: 1.78-6.43) was significantly increased in patients compared with controls.
The present study demonstrates the genetic association of polymorphism of FCGR2B (I232T) with susceptibility to anti-GBM disease in Chinese.
Fcγ 受体在动物模型中的抗肾小球基底膜抗体病（抗 GBM 病）中发挥重要作用，并且已经报道 FCGR 基因多态性与许多人类自身免疫性疾病相关。我们旨在阐明 FCGR 基因多态性与中国患者抗 GBM 病的遗传相关性。
共纳入 48 例抗 GBM 病患者和 225 名地理和种族匹配的健康对照者。采用 TaqMan 基因分型检测法检测先前鉴定的多态性 FCGR2A131H/R（rs1801274）、FCGR2B232I/T（rs1050501）和 FCGR3A176F/V（rs396991）的基因分型，以及采用 PCR-序列特异性引物（SSP）检测 FCGR3BNA1/2。分析鉴定多态性的等位基因类型、基因型和单倍型在患者和对照组之间的差异。
我们的结果表明，FCGR2A131H/R、FCGR3A176F/V 和 FCGR3BNA1/2 与抗 GBM 病无关。与对照组相比，患者中 FCGR2B232T 等位基因（30.2%比 15.6%，校正 P=0.00028，95%CI：1.42-3.89）和 I232T 基因型（60.4%比 31.1%，校正 P=0.0004，95%CI：1.78-6.43）的频率显著增加。
本研究表明，在中国人群中，FCGR2B（I232T）多态性与抗 GBM 病易感性相关。
