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Hyperhomocysteinaemia, low folate concentrations and MTHFR C677T mutation in abdominal aortic aneurysm

Hui Cao1, Xinhua Hu1, Qiang Zhang1

  • 1First Affiliated Hospital, China Medical University, Shenyang, China.

VASA. Zeitschrift Fur Gefasskrankheiten
|May 7, 2014
PubMed

Insights

Elevated homocysteine (Hcy) and folate deficiency are linked to abdominal aortic aneurysm (AAA) risk in China. The MTHFR gene mutation

Area of Science:

  • Cardiovascular Research
  • Genetics
  • Nutritional Science

Background:

  • Homocysteine (Hcy) is implicated in abdominal aortic aneurysm (AAA) pathogenesis.
  • The specific roles of vitamin B12, folic acid, and Hcy in Chinese AAA patients remain understudied.
  • This research investigates the relationship between these factors and AAA.

Purpose of the Study:

  • To evaluate the association of vitamin B12, folic acid, and homocysteine levels in patients with abdominal aortic aneurysm (AAA).
  • To determine the prevalence of the methylenetetrahydrofolate reductase (MTHFR) C677T gene mutation in AAA patients.
  • To explore the correlation between homocysteine levels, MTHFR genotype, and AAA characteristics.

Main Methods:

  • A case-control study involving 463 AAA patients and 463 matched controls from Northeast China.
  • Measurement of plasma total homocysteine, vitamin B12, and folic acid levels.
  • Genotyping for the MTHFR C677T gene mutation.

Main Results:

  • Significantly higher plasma homocysteine levels were observed in AAA patients compared to controls (18.37 ± 6.97 vs. 12.89 ± 4.08 μmol/L, P < 0.001).
  • The MTHFR C677T mutation's homozygous (TT) genotype was more frequent in AAA patients (19.4% vs. 11.9%, P = 0.002).
  • Fasting homocysteine levels correlated negatively with folate (r = -0.311, P < 0.01) and positively with aneurysm size (r = 0.286, P < 0.001).

Conclusions:

  • Serum folate deficiency and hyperhomocysteinemia are associated with an increased risk of AAA in Northeast China.
  • The homozygous MTHFR C677T genotype may represent a significant hereditary risk factor for AAA development.
  • These findings highlight the importance of homocysteine and folate metabolism in AAA pathogenesis.
Abstract

Keywords:
Homocysteineabdominal aortic aneurysmfolatemethylene tetrahydrofolate reductasevitamin B12

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