@article {1430536,
	title = {Association of the SIX6 locus with primary open angle glaucoma in southern Chinese and Japanese},
	journal = {Exp Eye Res},
	volume = {180},
	year = {2019},
	month = {2019 Mar},
	pages = {129-136},
	abstract = {The purpose of the study was to evaluate the association profiles of the SIX6 locus with primary open-angle glaucoma (POAG) in southern Chinese and Japanese. In this study, we tested single marker and haplotype-based associations of 11 tagging single nucleotide polymorphisms (SNPs) covering the SIX6 locus with POAG in a Hong Kong Chinese cohort (N = 1402). A novel SNP (i.e., rs12436579) and two SNPs (i.e., rs33912345 and rs10483727) from previous genome-wide association studies were further tested in a Chinese cohort from Shantou (N = 888) and a Japanese cohort from Osaka (N = 463). Results from the three cohorts were meta-analysed using a random-effect model. We found rs12436579, which has not been previously reported, was associated with POAG in Hong Kong and Shantou Chinese (P = 4.3 {\texttimes} 10, OR = 0.72, I = 0). Additionally, we replicated the association of one known SNP, rs33912345 (P = 0.0061, OR = 0.69, I = 45\%), with POAG in the Chinese cohorts but not in the Japanese cohort (P \&gt; 0.6). Another known SNP, rs10483727, was nominally associated with POAG in the two Chinese cohorts (P = 0.017, OR = 0.70, I = 53\%). All these three SNPs were significantly associated with POAG when the three cohorts were combined in meta-analysis (P\&lt;0.005). Furthermore, two haplotypes, C-C (P = 1.13 {\texttimes} 10, OR = 1.41, I = 0) and A-A (P = 0.045, OR = 0.68, I = 70\%), defined by rs33912345-rs12436579 were associated with POAG in Chinese but not in Japanese. In conclusion, this study confirmed the association between two GWAS SNPs in SIX6 (rs33912345 and rs10483727) and POAG. Also, a SNP, rs12436579, not associated with POAG before, was found to be associated with POAG in Chinese. Further studies are warranted to elucidate the role of this novel SNP in POAG.},
	issn = {1096-0007},
	doi = {10.1016/j.exer.2018.12.014},
	author = {Rong, Shi Song and Lu, Shi Yao and Matsushita, Kenji and Huang, Chukai and Leung, Christopher K S and Kawashima, Rumi and Usui, Shinichi and Tam, Pancy O S and Young, Alvin L and Tsujikawa, Motokazu and Zhang, Mingzhi and Nishida, Kohji and Wiggs, Janey L and Tham, Clement C and Pang, Chi Pui and Chen, Li Jia}
}
