Área Técnica: Genética
EVALUATION OF POLYMORPHISMS ASSOCIATED WITH PRIMARY ANGLE CLOSURE GLAUCOMA IN A BRAZILIAN POPULATION
Recently, three genetic susceptibility loci for primary angle closure glaucoma (PACG) were identified in genes COL11A1, PCMTD1-ST18 and PLEKHA7. However, no study has investigated this genetic susceptibility in Brazilian population. The purpose of the study is to investigate the association of the single nucleotide polymorphisms (SNPs) rs11024102 (PLEKHA7), rs3753841 (COL11A1), rs1015213 (between PCMTD1 and ST18 genes) with primary angle closure glaucoma (PACG) in a Brazilian population.
This was a case-control study. SNPs rs11024102, rs3753841 and rs1015213 were genotyped through direct sequencing. Genetic association was estimated through qui-square test.
The study included 174 cases and 340 normal controls. Significant association was identified for the SNP rs11024102 in PACG patients (P=0.009). However, no association was identified for rs3753841 (P=0.066) and rs1015213 (P=0.965).
Our study suggests that PLEKHA7 rs11024102 was associated with an increased risk of PACG in a sample of the Brazilian population, supporting prior reports. Further investigation in a larger sample is necessary to confirm the importance of COL11A1 and PCMTD1-ST18 genes in the pathogenesis of glaucoma in our population.