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Eranga N. Vithana, Chiea C. Khor, Wishal D. Ramdas, Belinda K. Cornes, Johannes R. Vingerling, Caroline C. Klaver, E-Shyong Tai, Tien Y. Wong, Cornelia M. van Duijn, Tin Aung; A Genome-wide Association Study Identifies A Novel Locus Influencing Optic Disc Size On Chromosome 22q13.1. Invest. Ophthalmol. Vis. Sci. 2011;52(14):5876.
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Earlier studies have suggested that the size of the optic nerve head could be governed by hereditary factors. A recent genome-wide association study (GWAS) using data from over 11,000 Caucasians identified three loci for optic disc area. Here we report the identification of a novel locus associated with optic disc size identified through a GWAS study in two cohorts of Asian ethnicity from Singapore.
A GWAS was conducted on 4445 Singaporean individuals (N = 2132 of Indian, and N = 2313 of Malay ancestry, respectively), with replication in Rotterdam, the Netherlands (N = 9326 individuals of Caucasian ancestry) using the most widely reported parameter for optic disc traits, the optic disc area.
We identified a novel locus on chromosome 22q13.1, which strongly associates with optic disc size in both Singaporean cohorts as well as in the Rotterdam Study (per-allele change in optic disc size = 0.051 mm2; Pmeta = 2.73 x 10-12) and confirmed the association between CDC7 / TGFBR3 on chromosome 1p22 (lead SNP rs1192415, Pmeta = 7.57 x 10-17) and ATOH7 on chromosome 10q21.3-22.1 (lead SNP rs7916697, Pmeta = 2.00 x 10-15) and optic disc size in Asians. We did not observe evidence of association with optic disc size at the previously reported chromosome 16q12.1 locus near SALL1.
This is the first Asian-based genome-wide association study on optic disc size, identifying a novel locus for optic disc size, but also confirming results found in Caucasian persons suggesting that there are general genetic determinants applicable to the size of optic disc across different ethnicities.
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