Related Experiment Videos
Homocysteine, vitamins and gene mutations in peripheral arterial disease
H Stricker1, G Soldati, T Balmelli
1Servizio di Angiologia, Ospedale Regionale Locarno, Locarno, Switzerland. hans.stricker@eoc.ch
Insights
Elevated homocysteine (tHcy) shows a modest association with peripheral artery obstructive disease (PAOD), particularly in women. The MTHFR gene TT genotype also had a weak, non-significant link to PAOD.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Nutritional Biochemistry
Background:
- Peripheral artery obstructive disease (PAOD) is a significant cardiovascular risk.
- Elevated plasma homocysteine (tHcy) is a potential risk factor for vascular diseases.
- MTHFR gene mutations are implicated in homocysteine metabolism.
Purpose of the Study:
- To investigate the association between plasma homocysteine (tHcy), vitamin B12, folate levels, and MTHFR gene mutations in patients with PAOD.
- To compare these markers between PAOD patients and healthy controls.
Main Methods:
- A case-control study involving 51 PAOD patients undergoing angioplasty and age/sex-matched controls.
- Analysis of plasma homocysteine (tHcy), vitamin B12, and folate levels.
- Assessment of MTHFR gene mutations (specifically the TT genotype).
Main Results:
- No significant difference in mean tHcy between PAOD patients and controls.
- A trend towards higher tHcy in PAOD patients, especially in the highest percentile (OR 2.8).
- Female PAOD patients showed significantly higher tHcy than female controls (P=0.05), with a strong association for tHcy above the 95th percentile (OR 10.5).
- The MTHFR TT genotype was more prevalent in PAOD patients (24%) than controls (12%), but the association was not statistically significant (OR 2.3).
Conclusions:
- A modest association exists between elevated tHcy and PAOD, primarily observed in female patients at the highest homocysteine levels.
- The MTHFR gene TT genotype shows a weak, non-significant association with PAOD.
- Further research may clarify the role of homocysteine and MTHFR genotype in PAOD pathogenesis, especially in specific demographic groups.
Abstract:
A case-control study was undertaken involving 51 consecutive patients with peripheral artery obstructive disease (PAOD) scheduled for angioplasty. Blood samples of these patients were analysed for plasma homocysteine (tHcy) and levels of vitamin B12 and folate, and the MTHFR gene was assessed for mutation. Patients were compared with age- and sex-matched controls who did not present with cardiovascular risk factors. Mean tHcy did not differ between cases and controls (13.3 +/- 5.7 and 12.6 +/- 4.9 micromol/l, P = 0.49). More patients were above the 95th percentile as determined from the data in the control group with an odds ratio (OR) that almost reached statistical significance [OR, 2.8; 95% confidence interval (CI), 0.9-8.7], but on separate analyses only female patients showed higher tHcy than female controls (15.6 versus 12.0 micromol/l, P = 0.05), with an odds ratio for tHcy above the 95th percentile of 10.5 (95% CI, 1.1-96.6). The TT genotype of the MTHFR gene was found in 24% of the patients and in 12% of the controls (OR, 2.3; 95% CI, 0.8-6.7). Our findings point to a modest association between tHcy and PAOD, with a difference between cases and controls restricted to the highest percentile in female patients. A weak but not significant association was also found for the TT genotype of the MTHFR gene.