Haplotype analysis of association of the MYOC gene with primary angle-closure glaucoma in a Han Chinese population.
Genet Test Mol Biomarkers
; 19(1): 3-8, 2015 Jan.
Article
in En
| MEDLINE
| ID: mdl-25268471
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Haplotypes
/
Glycoproteins
/
Glaucoma, Angle-Closure
/
Polymorphism, Single Nucleotide
/
Cytoskeletal Proteins
/
Alleles
/
Eye Proteins
Type of study:
Risk_factors_studies
Limits:
Adult
/
Female
/
Humans
/
Middle aged
Country/Region as subject:
Asia
Language:
En
Journal:
Genet Test Mol Biomarkers
Journal subject:
BIOLOGIA MOLECULAR
/
GENETICA
Year:
2015
Type:
Article
Affiliation country:
China