Genome-wide association study of IgA nephropathy using 23 465 microsatellite markers in a Japanese population

Sanae Saka; Nobuhito Hirawa; Akira Oka; Keisuke Yatsu; Takeshi Hirukawa; Ryohei Yamamoto; Taiji Matsusaka; Enyu Imai; Ichiei Narita; Masayuki Endoh; Iekuni Ichikawa; Satoshi Umemura; Hidetoshi Inoko

doi:10.1038/jhg.2015.88

Genome-wide association study of IgA nephropathy using 23 465 microsatellite markers in a Japanese population

J Hum Genet. 2015 Oct;60(10):573-80. doi: 10.1038/jhg.2015.88. Epub 2015 Jul 23.

Authors

Sanae Saka^{1

2}, Nobuhito Hirawa², Akira Oka³, Keisuke Yatsu¹, Takeshi Hirukawa⁴, Ryohei Yamamoto⁵, Taiji Matsusaka⁴, Enyu Imai^{6

7}, Ichiei Narita⁸, Masayuki Endoh⁴, Iekuni Ichikawa^{9

10}, Satoshi Umemura¹, Hidetoshi Inoko³

Affiliations

¹ Department of Medical Science and Cardiorenal Medicine, Yokohama City University, Graduate School of Medicine, Yokohama, Japan.
² Department of Nephrology and Hypertension, Yokohama City University Medical Center, Yokohama, Japan.
³ The Institute of Medical Science, Tokai University, Isehara, Japan.
⁴ Division of Nephrology, Endocrinology and Metabolism, Department of Internal Medicine, Tokai University School of Medicine, Isehara, Japan.
⁵ Department of Nephrology, Osaka University Graduate School of Medicine, Osaka, Japan.
⁶ Nakayamadera Imai Clinic, Takarazuka, Japan.
⁷ Department of Nephrology, Fujita Health University, Toyoake, Japan.
⁸ Division of Clinical Nephrology and Rheumatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
⁹ Department of Ethics, Shinshu Univeristy, Nagano, Japan.
¹⁰ Departments of Pediatrics and Medicine, Vanderbilt University, Nashville, TN, USA.

PMID: 26202575
DOI: 10.1038/jhg.2015.88

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Asian People
Chromosomes, Human, Pair 12 / genetics*
Chromosomes, Human, Pair 6 / genetics*
Female
Genome-Wide Association Study
Glomerulonephritis, IGA / genetics*
HLA Antigens / genetics*
Humans
Japan
Male
Microsatellite Repeats*
Receptor-Like Protein Tyrosine Phosphatases, Class 7 / genetics*
Tetraspanins / genetics*

Substances

HLA Antigens
TSPAN8 protein, human
Tetraspanins
PTPRR protein, human
Receptor-Like Protein Tyrosine Phosphatases, Class 7