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Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.

Publication ,  Journal Article
Liao, J; Su, X; Chen, P; Wang, X; Xu, L; Li, X; Thean, L; Tan, C; Tan, AG; Tay, W-T; Jun, G; Zheng, Y; Chew, M; Wang, YX; Tan, QS; Aung, T ...
Published in: Hum Mol Genet
November 15, 2014

Age-related cataract is a leading cause of blindness worldwide, especially in developing countries where access to cataract surgery remains limited. Previous linkage and candidate gene studies suggested genetic influences on age-related nuclear cataract but few genetic markers have been identified thus far. We conducted genome-wide association studies on 4569 Asians (including 2369 Malays and 2200 Indians), and replicated our analysis in 2481 Chinese from two independent cohorts (1768 Chinese in Singapore and 803 Chinese in Beijing). We confirmed two genome-wide significant loci for nuclear cataract in the combined meta-analysis of four cohorts (n = 7140). The first locus was at chromosome 3q25.31 in KCNAB1 (rs7615568, fixed-effect Pmeta = 2.30 × 10(-8); random-effect Pmeta = 1.08 × 10(-8)). The second locus was at chromosome 21 in the proximity of CRYAA (rs11911275, fixed-effect Pmeta = 2.77 × 10(-8); random-effect Pmeta = 1.98 × 10(-9)), a major protein component of eye lens. The findings were further supported by up-regulation and down-regulation of KCNAB1 and CRYAA in human lens capsule, respectively, as the severity of nuclear cataract increases. The results offer additional insights into the pathogenesis of nuclear cataract in Asians.

Duke Scholars

Published In

Hum Mol Genet

DOI

EISSN

1460-2083

Publication Date

November 15, 2014

Volume

23

Issue

22

Start / End Page

6119 / 6128

Location

England

Related Subject Headings

  • Middle Aged
  • Male
  • Kv1.3 Potassium Channel
  • Humans
  • Genotype
  • Genome-Wide Association Study
  • Genetics & Heredity
  • Genetic Predisposition to Disease
  • Female
  • Crystallins
 

Citation

APA
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MLA
NLM
Liao, J., Su, X., Chen, P., Wang, X., Xu, L., Li, X., … Cheng, C.-Y. (2014). Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract. Hum Mol Genet, 23(22), 6119–6128. https://doi.org/10.1093/hmg/ddu315
Liao, Jiemin, Xinyi Su, Peng Chen, Xu Wang, Liang Xu, Xiang Li, Lennard Thean, et al. “Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.Hum Mol Genet 23, no. 22 (November 15, 2014): 6119–28. https://doi.org/10.1093/hmg/ddu315.
Liao J, Su X, Chen P, Wang X, Xu L, Li X, et al. Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract. Hum Mol Genet. 2014 Nov 15;23(22):6119–28.
Liao, Jiemin, et al. “Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.Hum Mol Genet, vol. 23, no. 22, Nov. 2014, pp. 6119–28. Pubmed, doi:10.1093/hmg/ddu315.
Liao J, Su X, Chen P, Wang X, Xu L, Li X, Thean L, Tan C, Tan AG, Tay W-T, Jun G, Zheng Y, Chew M, Wang YX, Tan QS, Barathi VA, Klein BE, Saw S-M, Vithana EN, Tai E-S, Iyengar SK, Mitchell P, Khor C-C, Aung T, Wang JJ, Jonas JB, Teo Y-Y, Wong TY, Cheng C-Y. Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract. Hum Mol Genet. 2014 Nov 15;23(22):6119–6128.
Journal cover image

Published In

Hum Mol Genet

DOI

EISSN

1460-2083

Publication Date

November 15, 2014

Volume

23

Issue

22

Start / End Page

6119 / 6128

Location

England

Related Subject Headings

  • Middle Aged
  • Male
  • Kv1.3 Potassium Channel
  • Humans
  • Genotype
  • Genome-Wide Association Study
  • Genetics & Heredity
  • Genetic Predisposition to Disease
  • Female
  • Crystallins