Methylenetetrahydrofolate reductase gene polymorphisms c.677C/T and c.1298A/C are not associated with open angle glaucoma.
Methylenetetrahydrofolate reductase gene polymorphisms c.677C/T and c.1298A/C are not associated with open angle glaucoma.
复制标题
DOI：
--
复制
发表时间：
2006-07
期刊：
影响因子：
2.2
通讯作者：
F. Mabuchi;Sa Tang;K. Kashiwagi;Z. Yamagata;H. Iijima;S. Tsukahara
中科院分区：
文献类型：
--
作者：
F. Mabuchi;Sa Tang;K. Kashiwagi;Z. Yamagata;H. Iijima;S. Tsukahara
目的探讨亚甲基四氢叶酸还原酶（MTHFR）基因c.677C/T和c.1298A/C多态性与开角型青光眼（OAG）的相关性。方法对131例日本正常眼压性青光眼（NTG）患者、133例原发性开角型青光眼（POAG）患者和106例对照组进行基因组DNA检测。采集血样时，NTG患者的平均年龄为62.8 ± 13.3岁（平均值± SD），POAG患者为61.8 ± 15.4岁，对照受试者为65.0 ± 10.5岁。采用焦磷酸测序法分析MTHFR c.677C/T和c.1298A/C基因型和等位基因频率，并比较OAG患者和对照组之间的结果。OAG患者和对照组的MTHFR c.677C/T和c.1298A/C基因型频率也进行了比较。结果两组间无显著性差异（p>0.05，卡方检验或Fisher精确检验）（NTG患者TT：14.5%，CT：44.3%，CC：41.2%; POAG患者TT：20.3%，CT：41.4%，CC：38.3%; TT：17.9%，CT：36.8%，CC：对照受试者为45.3%）和c.1298A/C（NTG患者为CC：0%，AC：38.9%，AA：61.1%; POAG患者为CC：2.3%，AC：32.3%，AA：65.4%;对照受试者为CC：0.9%，AC：41.5%，AA：57.6%）。NTG和POAG患者与对照组之间无等位基因频率差异。NTG和POAG患者MTHFR c.677C/T和c.1298A/C复合基因型频率与对照组比较差异无统计学意义（p>0.05，卡方检验）。结论MTHFR基因c.677C/T和c.1298A/C多态性与NTG和POAG无相关性。MTHFR与OAG的关系有待于在不同种族人群中进一步研究。
PURPOSE To assess whether or not the c.677C/T and c.1298A/C genetic polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene are associated with open angle glaucoma (OAG). METHODS Genomic DNA was examined in a cohort of 131 Japanese patients with normal tension glaucoma (NTG), 133 patients with primary open angle glaucoma (POAG), and 106 control subjects. The mean age at the time of blood sampling was 62.8+/-13.3 years (mean+/-SD) in the patients with NTG, 61.8+/-15.4 years in the patients with POAG, and 65.0+/-10.5 years in the control subjects. MTHFR c.677C/T and c.1298A/C genotype and allele frequencies were determined using pyrosequencing analysis, and the findings were compared between the OAG patients and control subjects. The frequencies of compound MTHFR c.677C/T and c.1298A/C genotypes were also compared between OAG patients and control subjects. RESULTS No significant differences were observed (p>0.05, chi2 test or Fisher's exact test) regarding the MTHFR c.677C/T genotype (TT: 14.5%, CT: 44.3%, CC: 41.2% for patients with NTG; TT: 20.3%, CT: 41.4%, CC: 38.3% for patients with POAG; TT: 17.9%, CT: 36.8%, CC: 45.3% for control subjects) and c.1298A/C (CC: 0%, AC: 38.9%, AA: 61.1% for patients with NTG; CC: 2.3%, AC: 32.3%, AA: 65.4% for patients with POAG; CC: 0.9%, AC: 41.5%, AA: 57.6% for control subjects). There were no allele frequencies between the NTG or POAG patients and the control subjects. In addition, no significant differences (p>0.05, chi2 test) were found in the frequencies of the compound MTHFR c.677C/T and c.1298A/C genotypes between the NTG or POAG patients and the control subjects. CONCLUSIONS The MTHFR c.677C/T and c.1298A/C polymorphisms were not found to be associated with NTG and POAG. Further studies in the different ethnic populations should be performed to elucidate the relationship between MTHFR and OAG.