Open AccessPrimary Angle Closure and Sequence Variants within MicroRNA Binding Sites of Genes Involved in Eye Development
Author(s) -
Haihong Shi,
Junfang Zhang,
Rongrong Zhu,
Nan Hu,
Hong Lü,
Mei Yang,
Bai Qin,
Jianzhong Shi,
Huaijin Guan
Publication year - 2016
Publication title -
plos one
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.99
H-Index - 332
ISSN - 1932-6203
DOI - 10.1371/journal.pone.0166055
Subject(s) - single nucleotide polymorphism , genetics , biology , snp genotyping , genotype , allele , snp , genotyping , methylenetetrahydrofolate reductase , gene , population , allele frequency , microrna , medicine , environmental health
Purpose The formation of primary angle closure (PAC) and primary angle closure glaucoma (PACG) is regulated by a tissue remodeling pathway that plays a critical role in eye development. MicroRNAs (miRNAs) are powerful gene expression regulators and may exert their effects on tissue remodeling genes. This study investigated the associations between gene variants (single-nucleotide polymorphism, SNP) in miRNA binding sites in the 3’-UTR region of genes involved in eye development and PAC. Methods The sample consisted of 232 PAC subjects and 306 controls obtained from a population-based cohort in the Funing District of Jiangsu, China. The markers include 9 SNPs in the COL11A1 , PCMTD1 , ZNRF3 , MTHFR , and ALPPL2 genes respectively. SNP genotyping was performed with a TaqMan-MGB probe using an RT-PCR system. Results Of the 9 SNPs studied, the frequency of the minor A allele of COL11A1 rs1031820 was higher in the PAC group than in the control group in allele analysis (p = 0.047). The genotype analysis indicated that MTHFR rs1537514 is marginally associated with PAC (p = 0.014). The CC genotype of rs1537514 was present solely in the PAC group. However, the differences lost significance after Bonferroni correction. Conclusion Our study reveals a possible association of COL11A1 and MTHFR with PAC in the Han Chinese population. These results will contribute to an improved understanding of the genetic basis of PACG.