...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Journal of clinical laboratory analysis. >MTHFR MTHFR gene C677T and A1298C variants are associated with FMF FMF risk in a Turkish cohort
【24h】

MTHFR MTHFR gene C677T and A1298C variants are associated with FMF FMF risk in a Turkish cohort

机译：MTHFR MTHFR Gene C677T和A1298C变体与土耳其队列的FMF FMF风险相关联

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Background Methylenetetrahydrofolate reductase ( MTHFR ) is a crucial enzyme in homocysteine (Hcy) metabolism. We aimed to evaluate a possible relationship between MTHFR gene C677T (rs 1801133), A1298C (rs 1801131) variants and susceptibility to FMF in a Turkish cohort. Material‐Methods This case‐control study included 198 Turkish FMF patients and 100 healthy subjects as controls. MTHFR C677T and A1298C were analyzed by polymerase chain reaction ( PCR )‐restriction fragment length polymorphism ( RFLP ) methods. Results The genotype distribution and allele frequency of the MTHFR C677T were statistically different between the patients and the control group ( P =.006, P =.001, respectively). The frequency of the TT genotype and T allele of MTHFR C677T was significantly higher in the patients than in the controls. The genotype distribution of MTHFR A1298C variant did not show any statistically significant difference between the patients and the controls ( P ?.05). The patients had statistically different frequencies in allele C of MTHFR A1298C variant compared with the control ( P =.032). We also examined the risk associated with inheriting the combined genotypes for the two MTHFR variants. According to these results, individuals who were CC homozygous at C677T locus and AA homozygous at A1298C locus have a lower risk of developing FMF ( P =.002). Individuals who were TT homozygous at C677T locus and AC heterozygous at A1298C locus have higher risk of developing FMF ( P =.033). Conclusion Our findings clearly showed there was an association the MTHFR C677T/A1298C variants and susceptibility to FMF in the Turkish sample.
机译：背景亚甲基四氢叶酸还原酶（MTHFR）是同型半胱氨酸（Hcy）代谢的关键酶。我们旨在评估土耳其队列中MTHFR基因C677T（rs 1801133）、A1298C（rs 1801131）变异与FMF易感性之间的可能关系。材料-方法本病例对照研究包括198名土耳其FMF患者和100名健康受试者作为对照。采用聚合酶链反应（PCR）-限制性片段长度多态性（RFLP）方法分析MTHFR C677T和A1298C。结果MTHFR C677T基因型分布和等位基因频率在患者组和对照组之间存在统计学差异（分别为P=0.006和P=0.001）。患者MTHFR C677T的TT基因型和T等位基因频率显著高于对照组。MTHFR A1298C变异的基因型分布在患者和对照组之间没有显示出任何统计学上的显著差异（P？.05）。与对照组相比，患者MTHFR A1298C变异的等位基因C的频率在统计学上存在差异（P=0.032）。我们还研究了两种MTHFR变异体联合基因型的遗传风险。根据这些结果，C677T位点CC纯合子和A1298C位点AA纯合子的个体发生FMF的风险较低（P=0.002）。C677T位点TT纯合子和A1298C位点AC杂合子的个体发生FMF的风险较高（P=0.033）。结论我们的研究结果清楚地表明，土耳其样本中的MTHFR C677T/A1298C变异与FMF易感性存在关联。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号