대한안과학회 학술대회 발표 연제 초록
 
발표일자: 2018년 11월 2일(금) ~ 11월 4(일)
발표번호: P(e-poster)-407
발표장소: 코엑스 컨퍼런스룸 3층 301 A-B
Genetic variants associated with high intraocular pressure are not associated with primary angle closure glaucoma
Singapore National Eye Centre, Singapore (1) Singapore Eye Research Institute, Singapore (2) University of Cambridge, Cambridge, United Kingdom (3) The Chinese University of Hong Kong, Hong Kong (4) Sankara Nethralaya Vision Research Foundation, Chennai , India (5) Vietnam National Institute of Ophthalmology, Ha Noi, Vietnam (6) Universiti Sains Malaysia, Kelantan, Malaysia (7) Human Genetics, Genome Institute of Singapore, Singapore (8)
Rachel S Chong (1,2), Grace SE Kiew (3), Monisha E Nongpiur (1,2), Shamira Perera (1,2), Li Jia Chen (4), Sripriya Sarangapani (5), Do Tan (6), Yaakub Azhany (7), Ahmad Tajudin Liza-Sharmini (7), Clement Tham (4), Nguyen Xuan Hiep (6), Ronnie George (5),
Purpose : To investigate the association of high intraocular pressure (IOP)-associated single nucleotide polymorphisms (SNPs) with primary angle closure glaucoma (PACG). Methods : 1850 PACG cases and 10024 controls were recruited across 5 independent collections at ophthalmic hospitals in Asia. We assessed 12 index SNP markers mapping to genetic loci previously reported to show strong association for IOP (the loci are TMCO1, FNDC38, CAV1, ABCA1, RAPSN, NUP160, PTPRJ and GAS7). Single locus analysis was conducted using unconditional logistic regression fitted to test for association between individual SNP genotypes and PACG disease status. Genotype and allele frequencies were calculated for each SNP. Results : We did not observe evidence of association surpassing the conventional threshold for genome-wide significance (P<5x10-8) at any of the 12 SNPs tested. SNPs mapping to ABO and GAS7 had the lowest nominal p-values (ABO, rs8176743, P = 0.001, OR = 0.85; GAS7, rs9913911, P = 0.002, OR = 0.87). Conclusion : None of the tested SNPs associated with IOP were consistently linked to PACG in our study population. Our results suggest that PACG and POAG may have a divergent genetic basis with relation to IOP.
 
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