NDLI: A genetic variant in the SKIV2L gene is significantly associated with age-related macular degeneration in a Han Chinese population.

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A genetic variant in the SKIV2L gene is significantly associated with age-related macular degeneration in a Han Chinese population.

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A genetic variant in the SKIV2L gene is significantly associated with age-related macular degeneration in a Han Chinese population.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Shi, Yi Zhang, Qi Xu, Yu Liu, Xiaoqi Zhou, Yu Yang, Zhenglin Fei, Ping Hu, Jianbin Ma, Shi Lin, Ying Zhao, Peiquan Lu, Fang Fan, Yingchuan Qu, Chao Zhu, Xianjun Gong, Bo
Description	Country affiliation: China Author Affiliation: Lu F ( The Sichuan Key Laboratory for Human Disease Gene Study, Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China.)
Abstract	PURPOSE: Previous studies have shown that genetic variants in the complement component 2 (C2)/complement factor B (BF) gene are associated with AMD in Caucasians, but not in Han Chinese. Recent studies have indicated that genetic variants in the neighboring superkiller viralicidic activity 2-like (SKIV2L) gene showed significant association with AMD. We conducted this study to investigate whether genetic variants in the SKIV2L gene are associated with AMD in a Han Chinese population. METHODS: Thirteen single nucleotide polymorphisms (SNPs) in the C2-BF-RDBP-SKIV2L-STK19 region were genotyped by the SNaPshot method in a cohort composed of 449 patients with choriodal neovascularization (CNV) AMD and 1025 healthy controls of Han Chinese descent. RESULTS: Among the SNPs genotyped, P values of seven SNPs were less than 0.05; however, only rs429608 was found to be significantly associated with AMD after correction for multiple testing. The minor allele (A) frequency of rs429608 was 0.050 in cases and 0.089 in controls, and the P value was 3.76 × 10(-4) (0.00489 after Bonferroni correction), with an odds ratio of 0.55 (95% confidence interval, 0.40-0.77). The SKIV2L gene was expressed in the human RPE, retina, and D407 (human RPE) cells, and in mouse retinas and RPE. CONCLUSIONS: We demonstrated that the rs429608 genetic variant in the SKIV2L gene was significantly associated with AMD in a Han Chinese population. SKIV2L may play an important role in the development of AMD.
ISSN	01460404
e-ISSN	15525783
Journal	Investigative Opthalmology & Visual Science
Issue Number	4
Volume Number	54
Language	English
Publisher	Association for Research in Vision and Ophthalmology
Publisher Date	2013-04-26
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Albinism, Oculocutaneous Complications Fovea Centralis Abnormalities Nystagmus, Congenital Refractive Errors Discipline Ophthalmology
Content Type	Text
Resource Type	Article
Subject	Ophthalmology Sensory Systems Cellular and Molecular Neuroscience

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