Different WDR36 Mutation Pattern in Chinese Patients with Primary Open-angle Glaucoma

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Different WDR36 Mutation Pattern in Chinese Patients with Primary Open-angle Glaucoma

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Title: Different WDR36 Mutation Pattern in Chinese Patients with Primary Open-angle Glaucoma
Author: Cheng, Ching-Yu; Ko, Wendy Charles; Lam, Shun Chiu; Pang, Chi Pui; Fan, Baojian; Wang, Danyi

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Citation: Fan, Bao Jian, Dan Yi Wang, Ching-Yu Cheng, Wendy Charles Ko, Shun Chiu Lam, and Chi Pui Pang. 2009. Different mutation pattern in Chinese patients with primary open-angle glaucoma. Molecular Vision 15: 646-653.
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Abstract: Purpose: To determine the distribution of WD repeat domain 36 (WDR36) sequence variants in Chinese patients with primary open-angle glaucoma (POAG). Methods: One hundred and thirty-five unrelated POAG patients (82 high tension glaucoma [HTG], 42 normal tension glaucoma [NTG], and 11 juvenile-onset POAG [JOAG] patients) and 77 unrelated controls were recruited. All 23 coding exons and splicing junctions of WDR36 were sequenced using BigDye® Terminator v3.1 cycle sequencing kit. Single nucleotide polymorphism (SNP) and haplotype associations were analyzed using PLINK (version 1.04). Results: Nineteen sequence alterations were identified, and eight of them were novel including two novel nonsynonymous SNPs (L240V and I713V). Except the common I264V polymorphism, no other previously reported disease-causing or disease-susceptibility mutations were found. The novel I713V mutation was observed in three (3.7%) patients with HTG. One intronic SNP, IVS5+30C>T (rs10038177), showed significantly higher frequency of minor allele T in HTG patients (16.5%) than in controls (1.3%; Odds ratio [OR]=15.0, p=7.9×10−7, Bonferroni corrected p=1.5×10−5). Haplotype GTA, which is composed of rs13153937, rs10038177, and rs11241095, was significantly associated with HTG (OR=22.5, p=0.002, Bonferroni corrected p=0.013). Neither the individual SNPs nor haplotypes of WDR36 were associated with NTG or JOAG (Bonferroni corrected p>0.05). Conclusions: Findings in this study suggest WDR36 to be associated with sporadic HTG but not with NTG or JOAG. Our results also suggest a different mutation pattern of WDR36 in the Chinese population from other ethnic populations.
Published Version: http://www.molvis.org/molvis/v15/a66/
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2664842/pdf/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:4873195

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