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Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus.

Publication ,  Journal Article
Fan, BJ; Chen, X; Sondhi, N; Sharmila, PF; Soumittra, N; Sripriya, S; Sacikala, S; Asokan, R; Friedman, DS; Pasquale, LR; Gao, XR; Vijaya, L ...
Published in: Invest Ophthalmol Vis Sci
May 1, 2018

PURPOSE: To identify genetic risk factors contributing to central corneal thickness (CCT) in individuals from South India, a population with a high prevalence of ocular disorders. METHODS: One hundred ninety-five individuals from 15 large South Indian pedigrees were genotyped using the Omni2.5 bead array. Family-based association for CCT was conducted using the score test in MERLIN. RESULTS: Genome-wide association study (GWAS) identified strongest association for single nucleotide polymorphisms (SNPs) in the first intron of WNT7B and CCT (top SNP rs9330813; β = -0.57, 95% confidence interval [CI]: -0.78 to -0.36; P = 1.7 × 10-7). We further investigated rs9330813 in a Latino cohort and four independent European cohorts. A meta-analysis of these data sets demonstrated statistically significant association between rs9330813 and CCT (β = -3.94, 95% CI: -5.23 to -2.66; P = 1.7 × 10-9). WNT7B SNPs located in the same genomic region that includes rs9330813 have previously been associated with CCT in Latinos but with other ocular quantitative traits related to myopia (corneal curvature and axial length) in a Japanese population (rs10453441 and rs200329677). To evaluate the specificity of the observed WNT7B association with CCT in the South Indian families, we completed an ocular phenome-wide association study (PheWAS) for the top WNT7B SNPs using 45 ocular traits measured in these same families including corneal curvature and axial length. The ocular PheWAS results indicate that in the South Indian families WNT7B SNPs are primarily associated with CCT. CONCLUSIONS: The results indicate robust evidence for association between WNT7B SNPs and CCT in South Indian pedigrees, and suggest that WNT7B SNPs can have population-specific effects on ocular quantitative traits.

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Published In

Invest Ophthalmol Vis Sci

DOI

EISSN

1552-5783

Publication Date

May 1, 2018

Volume

59

Issue

6

Start / End Page

2495 / 2502

Location

United States

Related Subject Headings

  • Young Adult
  • Wnt Proteins
  • Quantitative Trait Loci
  • Polymorphism, Single Nucleotide
  • Pedigree
  • Organ Size
  • Ophthalmology & Optometry
  • Middle Aged
  • Male
  • Introns
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Fan, B. J., Chen, X., Sondhi, N., Sharmila, P. F., Soumittra, N., Sripriya, S., … Mexican American Glaucoma Genetic Study; International Glaucoma Genetics Consortium; and NEIGHBORHOOD Consortium, . (2018). Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus. Invest Ophthalmol Vis Sci, 59(6), 2495–2502. https://doi.org/10.1167/iovs.17-23536
Fan, Bao Jian, Xueli Chen, Nisha Sondhi, P Ferdinamarie Sharmila, Nagasamy Soumittra, Sarangapani Sripriya, Srinivasan Sacikala, et al. “Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus.Invest Ophthalmol Vis Sci 59, no. 6 (May 1, 2018): 2495–2502. https://doi.org/10.1167/iovs.17-23536.
Fan BJ, Chen X, Sondhi N, Sharmila PF, Soumittra N, Sripriya S, et al. Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus. Invest Ophthalmol Vis Sci. 2018 May 1;59(6):2495–502.
Fan, Bao Jian, et al. “Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus.Invest Ophthalmol Vis Sci, vol. 59, no. 6, May 2018, pp. 2495–502. Pubmed, doi:10.1167/iovs.17-23536.
Fan BJ, Chen X, Sondhi N, Sharmila PF, Soumittra N, Sripriya S, Sacikala S, Asokan R, Friedman DS, Pasquale LR, Gao XR, Vijaya L, Cooke Bailey J, Vitart V, MacGregor S, Hammond CJ, Khor CC, Haines JL, George R, Wiggs JL, Mexican American Glaucoma Genetic Study; International Glaucoma Genetics Consortium; and NEIGHBORHOOD Consortium. Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus. Invest Ophthalmol Vis Sci. 2018 May 1;59(6):2495–2502.

Published In

Invest Ophthalmol Vis Sci

DOI

EISSN

1552-5783

Publication Date

May 1, 2018

Volume

59

Issue

6

Start / End Page

2495 / 2502

Location

United States

Related Subject Headings

  • Young Adult
  • Wnt Proteins
  • Quantitative Trait Loci
  • Polymorphism, Single Nucleotide
  • Pedigree
  • Organ Size
  • Ophthalmology & Optometry
  • Middle Aged
  • Male
  • Introns