Primary Angle Closure and Sequence Variants within MicroRNA Binding Sites of Genes Involved in Eye Development.
OBJECTIVE
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.


CONCLUSIONS
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.
Eye Institute, Affiliated Hospital of Nantong University, Nantong, China.
Haihong
H
Shi
Eye Institute, Affiliated Hospital of Nantong University, Nantong, China.
Junfang
J
Zhang
Eye Institute, Affiliated Hospital of Nantong University, Nantong, China.
Rongrong
R
Zhu
Eye Institute, Affiliated Hospital of Nantong University, Nantong, China.
Nan
N
Hu
Eye Institute, Affiliated Hospital of Nantong University, Nantong, China.
Hong
H
Lu
Eye Institute, Affiliated Hospital of Nantong University, Nantong, China.
Mei
M
Yang
Eye Institute, Affiliated Hospital of Nantong University, Nantong, China.
Bai
B
Qin
Eye Institute, Affiliated Hospital of Nantong University, Nantong, China.
Jian
J
Shi
Eye Institute, Affiliated Hospital of Nantong University, Nantong, China.
Huaijin
H
Guan
D020413:3' Untranslated Regions / Q000235:genetics / Q000502:physiology; D000368:Aged; D016022:Case-Control Studies; D005123:Eye / Q000254:growth & development*; D005260:Female; D005787:Gene Frequency; D050437:Genes, Developmental / Q000235:genetics* / Q000502:physiology; D060005:Genotyping Techniques; D015812:Glaucoma, Angle-Closure / Q000235:genetics*; D006801:Humans; D008297:Male; D035683:MicroRNAs / Q000235:genetics* / Q000502:physiology; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics* / Q000502:physiology
D020413:3' Untranslated Regions; D035683:MicroRNAs