Association between methylenetetrahydrofolate reductase gene rs1801131 A/C polymorphism and urinary tumors'

Shuaili Xu1, Li Zuo2

  • 1Department of Paediatrics, Changzhou No. 2 People's Hospital Affiliated to Nanjing Medical University, Changzhou, 213003, Jiangsu Province, China.

Hereditas
|April 29, 2020
PubMed
Abstract

Insights

The methylenetetrahydrofolate reductase (MTHFR) rs1801131 A/C variant is linked to a higher risk of urinary cancers. This genetic polymorphism, affecting folate metabolism, particularly increases the risk for bladder cancer in Asian and African populations.

Area of Science:

  • Genetics and Molecular Biology
  • Cancer Epidemiology
  • Nutritional Biochemistry

Background:

  • The methylenetetrahydrofolate reductase (MTHFR) rs1801131 A/C variant impacts MTHFR enzyme activity, crucial for folate metabolism, DNA methylation, and synthesis.
  • Previous case-control studies on the association between MTHFR rs1801131 polymorphism and urinary cancer risk have yielded inconsistent results.

Purpose of the Study:

  • To conduct a comprehensive analysis to precisely determine the association between the MTHFR rs1801131 A/C polymorphism and the risk of developing urinary cancers.
  • To synthesize findings from multiple case-control studies to provide a more robust estimation of the genetic risk.

Main Methods:

  • A meta-analysis was performed, aggregating data from 28 relevant case-control studies.
  • Statistical analysis involved calculating odds ratios (OR) with 95% confidence intervals (CI) to assess the strength of association.

Main Results:

  • The MTHFR rs1801131 A/C polymorphism was found to be associated with an increased overall risk of urinary cancers (OR = 1.12, 95% CI = 1.01-1.24).
  • Specifically, this polymorphism was linked to a higher risk of bladder cancer in both Asian populations (C-allele vs. A-allele: OR = 1.35, 95% CI = 1.15-1.60) and African populations (CA vs. AA: OR = 1.63, 95% CI = 1.17-2.25).

Conclusions:

  • The MTHFR rs1801131 A/C polymorphism is significantly associated with an elevated risk of urinary cancers.
  • The association is particularly pronounced for bladder cancer, highlighting the role of this MTHFR variant in its pathogenesis across different ethnic groups.

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