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Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area

Chiea Chuen Khor, Wishal D. Ramdas, Eranga N. Vithana, Belinda K. Cornes, Xueling Sim, Wan-Ting Tay, Seang-Mei Saw, Yingfeng Zheng, Raghavan Lavanya, Renyi Wu, Jie Jin Wang, Paul Mitchell (+13 others)
2011 Human Molecular Genetics  

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Damage to the optic nerve (e.g. from glaucoma) has an adverse and often irreversible impact on vision. Earlier studies have suggested that the size of the optic nerve head could be governed by hereditary factors. We conducted a genome-wide association study (GWAS) on 4445 Singaporean individuals (n 5 2132 of Indian and n 5 2313 of Malay ancestry, respectively), with replication in Rotterdam, the Netherlands (n 5 9326 individuals of Caucasian ancestry) using the most widely reported parameter
more » ... optic disc traits, the optic disc area. We identified a novel locus on chromosome 22q13.1, CARD10, which strongly associates with optic disc area in both Singaporean cohorts as well as in the Rotterdam Study (RS; rs9607469, perallele change in optic disc area 5 0.051 mm 2 ; P meta 5 2.73310 212 ) and confirmed the association between CDC7/TGFBR3 (lead single nucleotide polymorphism (SNP) rs1192415, P meta 5 7.57310 217 ) and ATOH7 (lead SNP rs7916697, P meta 5 2.00 3 10 215 ) and optic disc area in Asians. This is the first Asian-based GWAS on optic disc area, identifying a novel locus for the optic disc area, but also confirming the results found in Caucasian persons suggesting that there are general genetic determinants applicable to the size of the optic disc across different ethnicities. †
doi:10.1093/hmg/ddr060 pmid:21307088 fatcat:d7w5ilexljbrboeyyjbzquz6rm
Citation

Chiea Chuen Khor, Wishal D. Ramdas, Eranga N. Vithana, Belinda K. Cornes, Xueling Sim, Wan-Ting Tay, Seang-Mei Saw, Yingfeng Zheng, Raghavan Lavanya, Renyi Wu, Jie Jin Wang, Paul Mitchell, André G. Uitterlinden, Fernando Rivadeneira, Yik-Ying Teo, Kee-Seng Chia, Mark Seielstad, Martin Hibberd, Johannes R. Vingerling, Caroline C.W. Klaver, Nomdo M. Jansonius, E-Shyong Tai, Tien-Yin Wong, Cornelia M. van Duijn, Tin Aung. "Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area." Human Molecular Genetics 20.9 (2011) 1864-1872