PMID- 21896860 OWN - NLM STAT- MEDLINE DCOM- 20120105 LR - 20221207 IS - 1552-5783 (Electronic) IS - 0146-0404 (Linking) VI - 52 IP - 11 DP - 2011 Oct 17 TI - Association of genetic variation on chromosome 9p21 with polypoidal choroidal vasculopathy and neovascular age-related macular degeneration. PG - 8063-7 LID - 10.1167/iovs.11-7820 [doi] AB - PURPOSE: Polypoidal choroidal vasculopathy (PCV) contains aneurismal morphologic and histopathologic feature and it is considered to be a possible distinct entity from neovascular age-related macular degeneration (AMD). In this study, the association of identified risk variants for intracranial aneurysm on chromosome 9p21 with PCV and neovascular AMD in a Chinese Han population was investigated. METHODS: The authors genotyped rs1333040 and rs10757278 on 9p21 in 177 PCV patients, 131 neovascular AMD patients, and 182 controls using a genotyping method and direct DNA sequencing. Allele and genotypes frequencies in the PCV and neovascular AMD groups were compared with controls using a free open-source software and binary logistic regression analysis. RESULTS: Rs1333040 was not associated with PCV or neovascular AMD. Rs10757278 was significantly associated with PCV [risk allele: A, P (allelic) = 0.014; odds ratio = 1.44; 95% confidence interval, 1.08-1.94], but not associated with neovascular AMD. After adjusting for sex, age, smoking status, history of hypertension, type 2 diabetes, and coronary artery disease, the odds ratio for homozygous carriers of rs10757278-A was 2.10 (95% confidence interval, 1.14-3.85) for PCV. CONCLUSIONS: The rs10757278 on chromosome 9p21 is significantly associated with the risk of PCV but not with neovascular AMD in the Chinese Han population. FAU - Zhang, Xiongze AU - Zhang X AD - State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China. FAU - Wen, Feng AU - Wen F FAU - Zuo, Chengguo AU - Zuo C FAU - Li, Meng AU - Li M FAU - Chen, Hui AU - Chen H FAU - Wu, Kunfang AU - Wu K LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20111017 PL - United States TA - Invest Ophthalmol Vis Sci JT - Investigative ophthalmology & visual science JID - 7703701 RN - 0 (DNA Primers) SB - IM MH - Adult MH - Aged MH - Aged, 80 and over MH - Alleles MH - Asian People/genetics MH - Choroid Diseases/*genetics MH - Chromosomes, Human, Pair 9/*genetics MH - DNA Primers/chemistry MH - Female MH - Genotype MH - Humans MH - Male MH - Middle Aged MH - Odds Ratio MH - Peripheral Vascular Diseases/*genetics MH - *Polymorphism, Single Nucleotide MH - Wet Macular Degeneration/*genetics EDAT- 2011/09/08 06:00 MHDA- 2012/01/06 06:00 CRDT- 2011/09/08 06:00 PHST- 2011/09/08 06:00 [entrez] PHST- 2011/09/08 06:00 [pubmed] PHST- 2012/01/06 06:00 [medline] AID - iovs.11-7820 [pii] AID - 10.1167/iovs.11-7820 [doi] PST - epublish SO - Invest Ophthalmol Vis Sci. 2011 Oct 17;52(11):8063-7. doi: 10.1167/iovs.11-7820.