Replication study in a Japanese population to evaluate the association between 10 SNP loci, identified in European genome-wide association studies, and type 2 diabetes

Ren Matsuba, Kensuke Sakai, Minako Imamura, Yasushi Tanaka, Minoru Iwata, Hiroshi Hirose, Kohei Kaku, Hiroshi Maegawa, Hirotaka Watada, Kazuyuki Tobe, Atsunori Kashiwagi, Ryuzo Kawamori, Shiro Maeda

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Abstract

Aim: We performed a replication study in a Japanese population to evaluate the association between type 2 diabetes and 7 susceptibility loci originally identified by European genomewide association study (GWAS) in 2012: ZMIZ1, KLHDC5, TLE1, ANKRD55, CILP2, MC4R, and BCAR1. We also examined the association of 3 additional loci: CCND2 and GIPR, identified in sex-differentiated analyses, and LAMA1, which was shown to be associated with non-obese European type 2 diabetes. Methods: We genotyped 6,972 Japanese participants (4,280 type 2 diabetes patients and 2,692 controls) for each of the 10 single nucleotide polymorphisms (SNPs): rs12571751 in ZMIZ1, rs10842994 near KLHDC5, rs2796441 near TLE1, rs459193 near ANKRD55, rs10401969 in CILP2, rs12970134 near MC4R, rs7202877 near BCAR1, rs11063069 near CCND2, rs8108269 near GIPR, and rs8090011 in LAMA1 using a multiplex polymerase chain reaction invader assay. The association of each SNP locus with the disease was evaluated using a logistic regression analysis. Results: All SNPs examined in this study had the same direction of effect (odds ratio > 1.0, p = 9.77 × 10<sup>-4</sup>, binomial test), as in the original reports. Among them, rs12571751 in ZMIZ1 was significantly associated with type 2 diabetes [p = 0.0041, odds ratio = 1.123, 95% confidence interval 1.037-1.215, adjusted for sex, age and body mass index (BMI)], but we did not observe significant association of the remaining 9 SNP loci with type 2 diabetes in the present Japanese population (p ≥ 0.005). A genetic risk score, constructed from the sum of risk alleles for the 7 SNP loci identified by un-stratified analyses in the European GWAS meta-analysis were associated with type 2 diabetes in the present Japanese population (p = 2.3 × 10 <sup>-4</sup>, adjusted for sex, age and BMI). Conclusions: ZMIZ1 locus has a significant effect on conferring susceptibility to type 2 diabetes also in the Japanese population.

Original languageEnglish
Article numbere0126363
JournalPLoS One
Volume10
Issue number5
DOIs
Publication statusPublished - 2015 May 7

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Genome-Wide Association Study
Medical problems
Polymorphism
noninsulin-dependent diabetes mellitus
Type 2 Diabetes Mellitus
single nucleotide polymorphism
Single Nucleotide Polymorphism
Nucleotides
Genes
Association reactions
loci
Population
odds ratio
body mass index
gender
Body Mass Index
Odds Ratio
Multiplex Polymerase Chain Reaction
Polymerase chain reaction
genome-wide association study

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

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Replication study in a Japanese population to evaluate the association between 10 SNP loci, identified in European genome-wide association studies, and type 2 diabetes. / Matsuba, Ren; Sakai, Kensuke; Imamura, Minako; Tanaka, Yasushi; Iwata, Minoru; Hirose, Hiroshi; Kaku, Kohei; Maegawa, Hiroshi; Watada, Hirotaka; Tobe, Kazuyuki; Kashiwagi, Atsunori; Kawamori, Ryuzo; Maeda, Shiro.

In: PLoS One, Vol. 10, No. 5, e0126363, 07.05.2015.

Research output: Contribution to journalArticle

Matsuba, R, Sakai, K, Imamura, M, Tanaka, Y, Iwata, M, Hirose, H, Kaku, K, Maegawa, H, Watada, H, Tobe, K, Kashiwagi, A, Kawamori, R & Maeda, S 2015, 'Replication study in a Japanese population to evaluate the association between 10 SNP loci, identified in European genome-wide association studies, and type 2 diabetes', PLoS One, vol. 10, no. 5, e0126363. https://doi.org/10.1371/journal.pone.0126363
Matsuba, Ren ; Sakai, Kensuke ; Imamura, Minako ; Tanaka, Yasushi ; Iwata, Minoru ; Hirose, Hiroshi ; Kaku, Kohei ; Maegawa, Hiroshi ; Watada, Hirotaka ; Tobe, Kazuyuki ; Kashiwagi, Atsunori ; Kawamori, Ryuzo ; Maeda, Shiro. / Replication study in a Japanese population to evaluate the association between 10 SNP loci, identified in European genome-wide association studies, and type 2 diabetes. In: PLoS One. 2015 ; Vol. 10, No. 5.
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abstract = "Aim: We performed a replication study in a Japanese population to evaluate the association between type 2 diabetes and 7 susceptibility loci originally identified by European genomewide association study (GWAS) in 2012: ZMIZ1, KLHDC5, TLE1, ANKRD55, CILP2, MC4R, and BCAR1. We also examined the association of 3 additional loci: CCND2 and GIPR, identified in sex-differentiated analyses, and LAMA1, which was shown to be associated with non-obese European type 2 diabetes. Methods: We genotyped 6,972 Japanese participants (4,280 type 2 diabetes patients and 2,692 controls) for each of the 10 single nucleotide polymorphisms (SNPs): rs12571751 in ZMIZ1, rs10842994 near KLHDC5, rs2796441 near TLE1, rs459193 near ANKRD55, rs10401969 in CILP2, rs12970134 near MC4R, rs7202877 near BCAR1, rs11063069 near CCND2, rs8108269 near GIPR, and rs8090011 in LAMA1 using a multiplex polymerase chain reaction invader assay. The association of each SNP locus with the disease was evaluated using a logistic regression analysis. Results: All SNPs examined in this study had the same direction of effect (odds ratio > 1.0, p = 9.77 × 10-4, binomial test), as in the original reports. Among them, rs12571751 in ZMIZ1 was significantly associated with type 2 diabetes [p = 0.0041, odds ratio = 1.123, 95{\%} confidence interval 1.037-1.215, adjusted for sex, age and body mass index (BMI)], but we did not observe significant association of the remaining 9 SNP loci with type 2 diabetes in the present Japanese population (p ≥ 0.005). A genetic risk score, constructed from the sum of risk alleles for the 7 SNP loci identified by un-stratified analyses in the European GWAS meta-analysis were associated with type 2 diabetes in the present Japanese population (p = 2.3 × 10 -4, adjusted for sex, age and BMI). Conclusions: ZMIZ1 locus has a significant effect on conferring susceptibility to type 2 diabetes also in the Japanese population.",
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T1 - Replication study in a Japanese population to evaluate the association between 10 SNP loci, identified in European genome-wide association studies, and type 2 diabetes

AU - Matsuba, Ren

AU - Sakai, Kensuke

AU - Imamura, Minako

AU - Tanaka, Yasushi

AU - Iwata, Minoru

AU - Hirose, Hiroshi

AU - Kaku, Kohei

AU - Maegawa, Hiroshi

AU - Watada, Hirotaka

AU - Tobe, Kazuyuki

AU - Kashiwagi, Atsunori

AU - Kawamori, Ryuzo

AU - Maeda, Shiro

PY - 2015/5/7

Y1 - 2015/5/7

N2 - Aim: We performed a replication study in a Japanese population to evaluate the association between type 2 diabetes and 7 susceptibility loci originally identified by European genomewide association study (GWAS) in 2012: ZMIZ1, KLHDC5, TLE1, ANKRD55, CILP2, MC4R, and BCAR1. We also examined the association of 3 additional loci: CCND2 and GIPR, identified in sex-differentiated analyses, and LAMA1, which was shown to be associated with non-obese European type 2 diabetes. Methods: We genotyped 6,972 Japanese participants (4,280 type 2 diabetes patients and 2,692 controls) for each of the 10 single nucleotide polymorphisms (SNPs): rs12571751 in ZMIZ1, rs10842994 near KLHDC5, rs2796441 near TLE1, rs459193 near ANKRD55, rs10401969 in CILP2, rs12970134 near MC4R, rs7202877 near BCAR1, rs11063069 near CCND2, rs8108269 near GIPR, and rs8090011 in LAMA1 using a multiplex polymerase chain reaction invader assay. The association of each SNP locus with the disease was evaluated using a logistic regression analysis. Results: All SNPs examined in this study had the same direction of effect (odds ratio > 1.0, p = 9.77 × 10-4, binomial test), as in the original reports. Among them, rs12571751 in ZMIZ1 was significantly associated with type 2 diabetes [p = 0.0041, odds ratio = 1.123, 95% confidence interval 1.037-1.215, adjusted for sex, age and body mass index (BMI)], but we did not observe significant association of the remaining 9 SNP loci with type 2 diabetes in the present Japanese population (p ≥ 0.005). A genetic risk score, constructed from the sum of risk alleles for the 7 SNP loci identified by un-stratified analyses in the European GWAS meta-analysis were associated with type 2 diabetes in the present Japanese population (p = 2.3 × 10 -4, adjusted for sex, age and BMI). Conclusions: ZMIZ1 locus has a significant effect on conferring susceptibility to type 2 diabetes also in the Japanese population.

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