Haplotype Analysis of Association of the MYOC Gene with Primary Angle-Closure Glaucoma in a Han Chinese Population
| Autor: | Wei-Wei Xu, Ling-Hui Qu, Yan Gong, Bao-Ke Hou, Da-Jiang Wang, Xin Jin |
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| Rok vydání: | 2015 |
| Předmět: |
Adult
China Glaucoma Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide Asian People Polymorphism (computer science) Genotype Genetic variation medicine Humans Allele Eye Proteins Alleles Genetics (clinical) Myocilin Glycoproteins Genetics Haplotype Original Articles General Medicine Middle Aged medicine.disease Cytoskeletal Proteins Haplotypes Female Glaucoma Angle-Closure |
| Zdroj: | Genetic Testing and Molecular Biomarkers. 19:3-8 |
| ISSN: | 1945-0257 1945-0265 |
| DOI: | 10.1089/gtmb.2014.0130 |
| Popis: | Purpose: The aim of this study is to examine whether or not myocilin (MYOC) genetic variations are associated with susceptibility to primary angle-closure glaucoma (PACG) in the Han Chinese population. Methods: Four single-nucleotide polymorphisms (SNPs)—rs235913, rs183532, rs12076134, and rs235875—in the MYOC gene were genotyped in 212 adult patients with PACG and 255 age-, sex-, and ethnic-matched healthy controls by using a polymerase chain reaction–restriction fragment length polymorphism assay. Data were analyzed by chi-square analysis. Results: The four SNPs in the MYOC gene were in the Hardy–Weinberg equilibrium in all the subjects. The frequencies of A allele rs183532 were significantly different between the PACG patients and the controls (0.238 vs. 0.169, p=0.008; OR=1.541; 95% CI: 1.117–2.127). The frequencies of the AA genotype and A allele of rs235913 were increased in PACG patients compared with controls, but the difference was not significant (p=0.037, p=0.017, respectively). A comparison of the distributions of the genotypes and alleles of rs12076134 and rs235875 showed no statistically significant differences between the PACG patients and the controls (p>0.05). Haplotype analysis indicated that the frequency of the AATG and AATA haplotypes was significantly higher for PACG patients than for control subjects (both p |
| Databáze: | OpenAIRE |
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