Investigation of the association between 677C>T and 1298A>C 5,10-methylenetetra- hydrofolate reductase gene polymorphisms and normal-tension glaucoma

Abstract

Purpose Homozygous polymorphism of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene and resultant hyperhomocysteinaemia have been established as an independent risk factor for vascular diseases. There are evidences that vascular abnormalities are involved in the pathogenesis and progression of normaltension glaucoma (NTG). In the present study, we were to find out the associations between 677C4T and 1298A4C polymorphisms of the MTHFR gene and NTG. Methods This was a retrospective, casecontrolled study enrolling 78 NTG patients and 100 controls. DNA from peripheral blood lymphocytes was extracted and the genotypes of polymorphisms (677C4T and 1298A4C) in the MTHFR gene were determined using PCR followed by restriction enzyme digestion. The frequencies of the polymorphic genotypes in the patients with NTG and controls were compared. Results The frequencies of the polymorphisms of the MTHFR gene (677C4T and 1298A4C) in the NTG patients were not significantly different from those of controls. But the younger NTG patients (age at diagnosis p45 years) showed significantly higher prevalence of 677C4T polymorphism than the older NTG patients (age at diagnosis 445 years) (TT genotype, 38.9 vs 11.9%, P ¼ 0.006, OR ¼ 4.71, 95% CI ¼ 1.49-14.9) and than the younger control subgroup (TT genotype, 38.9 vs 6.1%, P ¼ 0.001, OR ¼ 9.86, 95% CI ¼ 2.23-42.4). Conclusions The 677C4T polymorphism was significantly associated with NTG in the younger patients, while 1298A4C polymorphism was not. This suggests that 677C4T polymorphism of the MTHFR gene can be a genetic risk factor of NTG in Korean population.

MTHFR C677T Predisposes to POAG but Not to PACG in a North Indian Population: A Case Control Study

“…A Swedish study involving a relatively larger sample size than ours also reported lack of association between MTHFR C677T and POAG [18]. Similar lack of association was also obtained in populations from Iowa (U.S.A.) and Korea [19], [20].…”

Prevalence of variants that confer risk for venous thromboembolism in an elderly population of northeastern Brazil

“…Through analysis of indigenous tribes of Costa Rica, Herrmann et al (2004) found that the 677T allele was present in 69% of the population, the current highest observed prevalence of this polymorphism in the world. The high frequency of this polymorphism in the Asian countries Japan (40%) and Korea (44%) (Matsuo et al, 2004;Woo et al, 2009) were significantly different from the frequency found in this study (P = 0.003 and P = 0.011, respectively). Among the Arab countries, the frequency of this polymorphism ranges from 7 to 31% (Almawi et al, 2005;Hussein, 2012).…”

Association of Polymorphisms of Tumor Necrosis Factor and Tumor Protein p53 with Primary Open-Angle Glaucoma

“…22 However, this association with POAG has not yet been replicated in other studies, including three studies of Caucasians [63][64][65] and two of Asians, 66,67 although one study of Koreans suggested a possible association with younger NTG. 68 In the present study, we did not find any association between this SNP and POAG in the Chinese.…”