Haplotype analysis of association of the MYOC gene with primary angle-closure glaucoma in a Han Chinese population.

Abstract

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.

• Authors: Xin Jin, Da-Jiang Wang, Ling-Hui Qu, Bao-Ke Hou, Yan Gong, Wei-Wei Xu
• Journal: Genetic testing and molecular biomarkers (Genet Test Mol Biomarkers) Vol. 19 Issue 1 Pg. 3-8 (Jan 2015) ISSN: 1945-0257 [Electronic] United States
• PMID: 25268471 (Publication Type: Journal Article)

Chemical References

• Cytoskeletal Proteins
• Eye Proteins
• Glycoproteins
• trabecular meshwork-induced glucocorticoid response protein

Topics

• Adult
• Alleles
• Asian People (ethnology)
• China (ethnology)
• Cytoskeletal Proteins (genetics)
• Eye Proteins (genetics)
• Female
• Glaucoma, Angle-Closure (ethnology, genetics)
• Glycoproteins (genetics)
• Haplotypes
• Humans
• Middle Aged
• Polymorphism, Single Nucleotide