title: Replication study for the association of 3 SNP loci identified in a genome-wide association study for diabetic nephropathy in European type 1 diabetes with diabetic nephropathy in Japanese patients with type 2 diabetes.
abstract: BACKGROUND
  A recent genome-wide association study for diabetic nephropathy in European type 1 diabetes identified 3 candidate loci for diabetic nephropathy. In this study, we examined the association of the 3 single nucleotide polymorphism (SNP) loci with susceptibility to diabetic nephropathy in Japanese subjects with type 2 diabetes.
  
  
  METHODS
  We genotyped 3 SNPs, rs7583877 in AFF3, rs12437854 in the RGMA-MCTP2 locus and rs7588550 in ERBB4, for 2,300 Japanese patients with type 2 diabetes [initial study, 1,055 nephropathy cases with overt proteinuria or with end-stage renal disease (ESRD) and 1,245 control patients with normoalbuminuria]. The association of these SNPs with diabetic nephropathy was examined by using a logistic regression analysis.
  
  
  RESULTS
  We observed a significant association of rs7588550 in ERBB4 with diabetic nephropathy in the Japanese patients with type 2 diabetes, although the effect direction was not consistent with that in the European study [p = 0.0126, odds ratio (OR) = 0.79, 95 % confidence interval (CI): 0.65-0.95]. We further examined the association of rs7588550 with diabetic nephropathy in an independent Japanese cohort (596 nephropathy cases and 311 controls) and observed the same trend of the association with the initial study. We did not observe any association of the remaining 2 SNP loci with diabetic nephropathy in the present Japanese sample.
  
  
  CONCLUSIONS
  The association of SNP loci derived from GWAS in European type 1 diabetes with diabetic nephropathy was not replicated in the Japanese patients with type 2 diabetes, although the ERBB4 locus may have some effect also in Japanese type 2 diabetes.
authors.affiliation: Laboratory for Endocrinology and Metabolism, RIKEN Center for Genomic Medicine, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa, 230-0045, Japan, smaeda@src.riken.jp.
authors.forename: Shiro
authors.initials: S
authors.lastname: Maeda
authors.forename: Minako
authors.initials: M
authors.lastname: Imamura
authors.forename: Mahiro
authors.initials: M
authors.lastname: Kurashige
authors.forename: Shinichi
authors.initials: S
authors.lastname: Araki
authors.forename: Daisuke
authors.initials: D
authors.lastname: Suzuki
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Babazono
authors.forename: Takashi
authors.initials: T
authors.lastname: Uzu
authors.forename: Tomoya
authors.initials: T
authors.lastname: Umezono
authors.forename: Masao
authors.initials: M
authors.lastname: Toyoda
authors.forename: Koichi
authors.initials: K
authors.lastname: Kawai
authors.forename: Masahito
authors.initials: M
authors.lastname: Imanishi
authors.forename: Kazushige
authors.initials: K
authors.lastname: Hanaoka
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Maegawa
authors.forename: Yasuko
authors.initials: Y
authors.lastname: Uchigata
authors.forename: Tatsuo
authors.initials: T
authors.lastname: Hosoya
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D003928:Diabetic Nephropathies / Q000235:genetics*; D066246:ErbB Receptors / Q000235:genetics; D005260:Female; D058851:GPI-Linked Proteins / Q000235:genetics; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D007676:Kidney Failure, Chronic / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D066247:Receptor, ErbB-4; D044465:White People / Q000235:genetics*
chemical_list: C097738:AFF3 protein, human; D058851:GPI-Linked Proteins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; C522183:RGMA protein, human; C587689:ERBB4 protein, human; D066246:ErbB Receptors; D066247:Receptor, ErbB-4
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