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Abstract #59225 Published in IGR 16-3
Haplotype Analysis of Association of the MYOC Gene with Primary Angle-Closure Glaucoma in a Han Chinese Population
Jin X; Wang DJ; Qu LH; Hou BK; Gong Y; Xu WWGenetic testing and molecular biomarkers 2015; 19: 3-8
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<0.001). However, the frequency of CGGA and CGTG haplotypes was lower for PACG patients than for control subjects (p<0.001). CONCLUSIONS: Our study suggests that rs183532 is associated with an increased risk of PACG in the Chinese Han population.
1 Department of Ophthalmology, General Hospital of Chinese People's Liberation Army , Beijing, China .
Full articleClassification:
9.3.1 Acute primary angle closure glaucoma (pupillary block) (Part of: 9 Clinical forms of glaucomas > 9.3 Primary angle closure glaucomas)
9.3.5 Primary angle closure (Part of: 9 Clinical forms of glaucomas > 9.3 Primary angle closure glaucomas)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
9.3.2 Chronic primary angle closure glaucoma (pupillary block) (Part of: 9 Clinical forms of glaucomas > 9.3 Primary angle closure glaucomas)
