Saka Sanae, Hirawa Nobuhito, Oka Akira, Yatsu Keisuke, Hirukawa Takeshi, Yamamoto Ryohei, Matsusaka Taiji, Imai Enyu, Narita Ichiei, Endoh Masayuki, Ichikawa Iekuni, Umemura Satoshi, Inoko Hidetoshi
Department of Medical Science and Cardiorenal Medicine, Yokohama City University, Graduate School of Medicine, Yokohama, Japan.
Department of Nephrology and Hypertension, Yokohama City University Medical Center, Yokohama, Japan.
J Hum Genet. 2015 Oct;60(10):573-80. doi: 10.1038/jhg.2015.88. Epub 2015 Jul 23.
Immunoglobulin A nephropathy (IgAN) is the most common form of primary glomerulonephritis in many parts of the world. Although previous genome-wide association studies (GWAS) identified the major susceptibility loci for IgAN, the causal genes currently remain unknown. We performed a GWAS using 23 465 microsatellite (MS) markers to identify genes related to IgAN in a Japanese population. A pooled sample analysis was conducted in three-stage screenings of three independent case-control populations, and after the final step of individual typing, 11 markers survived. Of these, we focused on two regions on 6p21 and 12q21 because they (i) showed the strongest relationship with IgAN, and (ii) appeared to be highly relevant to IgAN in view of several previous studies. These regions contained the HLA, TSPAN8 and PTPRR genes. This study on GWAS, using >20 000 MS markers, provides a new approach regarding susceptible genes for IgAN for investigators seeking new tools for the prevention and treatment of IgAN.
免疫球蛋白A肾病（IgAN）是世界上许多地区最常见的原发性肾小球肾炎形式。尽管先前的全基因组关联研究（GWAS）确定了IgAN的主要易感基因座，但目前致病基因仍不清楚。我们使用23465个微卫星（MS）标记进行了一项GWAS，以在日本人群中鉴定与IgAN相关的基因。在三个独立的病例对照人群的三阶段筛查中进行了合并样本分析，在个体分型的最后一步之后，有11个标记留存下来。其中，我们重点关注6p21和12q21上的两个区域，因为它们（i）与IgAN的关系最为密切，并且（ii）鉴于先前的几项研究，似乎与IgAN高度相关。这些区域包含HLA、TSPAN8和PTPRR基因。这项使用超过20000个MS标记的GWAS研究，为寻求IgAN预防和治疗新工具的研究人员提供了一种关于IgAN易感基因的新方法。
