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Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore.

Publication ,  Journal Article
Han, S; Chen, P; Fan, Q; Khor, C-C; Sim, X; Tay, W-T; Ong, RT-H; Suo, C; Goh, L-K; Lavanya, R; Zheng, Y; Wu, R; Seielstad, M; Vithana, E ...
Published in: Human molecular genetics
September 2011

Corneal curvature (CC) is a key determinant of major eye diseases, such as keratoconus, myopia and corneal astigmatism. No prior studies have discovered the genes for CC. Here we report the findings from four genome-wide association studies of CC in 10 008 samples from three population groups in Singapore. Our discovery phase surveyed 2867 Chinese and 3072 Malays, allowing us to identify two loci that were associated with CC variation: FRAP1 on chromosome 1p36.2 and PDGFRA on chromosome 4q12. These findings were subsequently replicated in a validation study involving an additional 2953 Asian Indians and a further collection of 1116 Chinese children. The effect sizes of the identified variants were consistent across all four cohorts, with seven single nucleotide polymorphisms (SNPs) in FRAP1 (lead SNP: rs17036350, meta P-value = 4.06 × 10(-13)) and six SNPs in PDGFRA (lead SNP: rs2114039, meta P-value = 1.33 × 10(-9)) attaining genome-wide significance in the SNP-based meta-analysis of the four studies. This is the first genome-wide survey of CC variation and we have identified two implicated loci in three genetically diverse Asian populations, suggesting the presence of common genetic etiology across multiple populations.

Duke Scholars

Published In

Human molecular genetics

DOI

EISSN

1460-2083

ISSN

0964-6906

Publication Date

September 2011

Volume

20

Issue

18

Start / End Page

3693 / 3698

Related Subject Headings

  • Young Adult
  • TOR Serine-Threonine Kinases
  • Singapore
  • Receptor, Platelet-Derived Growth Factor alpha
  • Polymorphism, Single Nucleotide
  • Middle Aged
  • Male
  • Humans
  • Genome-Wide Association Study
  • Genetics & Heredity
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Han, S., Chen, P., Fan, Q., Khor, C.-C., Sim, X., Tay, W.-T., … Saw, S.-M. (2011). Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore. Human Molecular Genetics, 20(18), 3693–3698. https://doi.org/10.1093/hmg/ddr269
Han, Siyu, Peng Chen, Qiao Fan, Chiea-Chuen Khor, Xueling Sim, Wan-Ting Tay, Rick Twee-Hee Ong, et al. “Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore.Human Molecular Genetics 20, no. 18 (September 2011): 3693–98. https://doi.org/10.1093/hmg/ddr269.
Han S, Chen P, Fan Q, Khor C-C, Sim X, Tay W-T, et al. Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore. Human molecular genetics. 2011 Sep;20(18):3693–8.
Han, Siyu, et al. “Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore.Human Molecular Genetics, vol. 20, no. 18, Sept. 2011, pp. 3693–98. Epmc, doi:10.1093/hmg/ddr269.
Han S, Chen P, Fan Q, Khor C-C, Sim X, Tay W-T, Ong RT-H, Suo C, Goh L-K, Lavanya R, Zheng Y, Wu R, Seielstad M, Vithana E, Liu J, Chia K-S, Lee JJ-M, Tai E-S, Wong T-Y, Aung T, Teo Y-Y, Saw S-M. Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore. Human molecular genetics. 2011 Sep;20(18):3693–3698.
Journal cover image

Published In

Human molecular genetics

DOI

EISSN

1460-2083

ISSN

0964-6906

Publication Date

September 2011

Volume

20

Issue

18

Start / End Page

3693 / 3698

Related Subject Headings

  • Young Adult
  • TOR Serine-Threonine Kinases
  • Singapore
  • Receptor, Platelet-Derived Growth Factor alpha
  • Polymorphism, Single Nucleotide
  • Middle Aged
  • Male
  • Humans
  • Genome-Wide Association Study
  • Genetics & Heredity