[Association of PLEKHA7, COL11A1 and PCMTD1-ST18 gene polymorphisms with primary angle closure glaucoma in ethnic Han Chinese from Sichuan]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Aug;33(4):545-9. doi: 10.3760/cma.j.issn.1003-9406.2016.04.027.
[Article in Chinese]

Abstract

Objective: To assess the association of single nucleotide polymorphisms (SNPs) of PLEKHA7, COL11A1 and PCMTD1-ST18 genes and primary angle closure glaucoma (PACG) among ethnic Han Chinese from Sichuan Province.

Methods: In this study, 362 subjects with PACG and 1056 age- and sex-matched healthy controls were recruited. Genotypes of 3 reported SNPs, including PLEKHA7 rs11024102, COL11A1 rs3753841 and PCMTD1-ST18 rs1015213 were determined with a SNaPshot method.

Results: The P values for the genotype frequencies of rs11024102, rs3753841 and rs1015213 between the patient and control groups were 0.62 (OR=1.09, 95%CI: 0.91-1.30), 0.42 (OR=1.04, 95%CI: 0.87-1.41) and 0.34 (OR=1.35, 95%CI: 0.73-2.49), respectively. And the P values for the allele frequency distributions of PLEKHA7 rs11024102, COL11A1 rs3753841 and PCMTD1-ST18 rs1015213 between the two groups were 0.347, 0.698 and 0.344, respectively.

Conclusion: No significant association of PLEKHA7 rs11024102, COL11A1 rs3753841 and PCMTD1-ST18 rs1015213 with PACG was found among ethnic Han Chinese from Sichuan.

Publication types

  • English Abstract

MeSH terms

  • Carrier Proteins / genetics*
  • China / ethnology
  • Collagen Type XI / genetics*
  • Female
  • Glaucoma, Angle-Closure / genetics*
  • Humans
  • Male
  • Polymorphism, Single Nucleotide*
  • Protein D-Aspartate-L-Isoaspartate Methyltransferase / genetics*

Substances

  • COL11A1 protein, human
  • Carrier Proteins
  • Collagen Type XI
  • PLEKHA7 protein, human
  • PCMTD1 protein, human
  • Protein D-Aspartate-L-Isoaspartate Methyltransferase