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CMPK1 and RBP3 are associated with corneal curvature in Asian populations.

Publication ,  Journal Article
Chen, P; Miyake, M; Fan, Q; Liao, J; Yamashiro, K; Ikram, MK; Chew, M; Vithana, EN; Khor, C-C; Aung, T; Tai, E-S; Wong, T-Y; Teo, Y-Y ...
Published in: Hum Mol Genet
November 15, 2014

Corneal curvature (CC) measures the steepness of the cornea and is an important parameter for clinically diseases such as astigmatism and myopia. Despite the high heritability of CC, only two associated genes have been discovered to date. We performed a three-stage genome-wide association study meta-analysis in 12 660 Asian individuals. Our Stage 1 was done in multiethnic cohorts comprising 7440 individuals, followed by a Stage 2 replication in 2473 Chinese and Stage 3 in 2747 Japanese. The SNP array genotype data were imputed up to the 1000 Genomes Project Phase 1 cosmopolitan panel. The SNP association with the radii of CC was investigated in the linear regression model with the adjustment of age, gender and principal components. In addition to the known genes, MTOR (also known as FRAP1) and PDGFRA, we discovered two novel genes associated with CC: CMPK1 (rs17103186, P = 3.3 × 10(-12)) and RBP3 (rs11204213 [Val884Met], P = 1.1 × 10(-13)). The missense RBP3 SNP, rs11204213, was also associated with axial length (AL) (P = 4.2 × 10(-6)) and had larger effects on both CC and AL compared with other SNPs. The index SNPs at the four indicated loci explained 1.9% of CC variance across the Stages 1 and 2 cohorts, while 33.8% of CC variance was explained by the genome-wide imputation data. We identified two novel genes influencing CC, which are related to either corneal shape or eye size. This study provides additional insights into genetic architecture of corneal shape.

Duke Scholars

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Published In

Hum Mol Genet

DOI

EISSN

1460-2083

Publication Date

November 15, 2014

Volume

23

Issue

22

Start / End Page

6129 / 6136

Location

England

Related Subject Headings

  • Retinol-Binding Proteins
  • Polymorphism, Single Nucleotide
  • Nucleoside-Phosphate Kinase
  • Middle Aged
  • Male
  • Japan
  • Humans
  • Genome-Wide Association Study
  • Genetics & Heredity
  • Genetic Predisposition to Disease
 

Citation

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Chen, P., Miyake, M., Fan, Q., Liao, J., Yamashiro, K., Ikram, M. K., … Cheng, C.-Y. (2014). CMPK1 and RBP3 are associated with corneal curvature in Asian populations. Hum Mol Genet, 23(22), 6129–6136. https://doi.org/10.1093/hmg/ddu322
Chen, Peng, Masahiro Miyake, Qiao Fan, Jiemin Liao, Kenji Yamashiro, Mohammad K. Ikram, Merywn Chew, et al. “CMPK1 and RBP3 are associated with corneal curvature in Asian populations.Hum Mol Genet 23, no. 22 (November 15, 2014): 6129–36. https://doi.org/10.1093/hmg/ddu322.
Chen P, Miyake M, Fan Q, Liao J, Yamashiro K, Ikram MK, et al. CMPK1 and RBP3 are associated with corneal curvature in Asian populations. Hum Mol Genet. 2014 Nov 15;23(22):6129–36.
Chen, Peng, et al. “CMPK1 and RBP3 are associated with corneal curvature in Asian populations.Hum Mol Genet, vol. 23, no. 22, Nov. 2014, pp. 6129–36. Pubmed, doi:10.1093/hmg/ddu322.
Chen P, Miyake M, Fan Q, Liao J, Yamashiro K, Ikram MK, Chew M, Vithana EN, Khor C-C, Aung T, Tai E-S, Wong T-Y, Teo Y-Y, Yoshimura N, Saw S-M, Cheng C-Y. CMPK1 and RBP3 are associated with corneal curvature in Asian populations. Hum Mol Genet. 2014 Nov 15;23(22):6129–6136.
Journal cover image

Published In

Hum Mol Genet

DOI

EISSN

1460-2083

Publication Date

November 15, 2014

Volume

23

Issue

22

Start / End Page

6129 / 6136

Location

England

Related Subject Headings

  • Retinol-Binding Proteins
  • Polymorphism, Single Nucleotide
  • Nucleoside-Phosphate Kinase
  • Middle Aged
  • Male
  • Japan
  • Humans
  • Genome-Wide Association Study
  • Genetics & Heredity
  • Genetic Predisposition to Disease