Source: Annual Congress 2006 - Pulmonary hypertension: thromo-embolic processes
Disease area: Pulmonary vascular diseases

Abstract

Background: Previously we have demonstrated the association between ACE gene polymorphism and the development of high altitude pulmonary hypertension (HAPH). (Aldashev et al., AJRCCM 2002; 166: 1396-1402). The C677T mutation of methylenetetrahydrofolate reductase (MTHFR) gene is associated with reduced enzyme activity and increased plasma levels of homocysteine which lead to vascular remodeling in cardiovascular diseases (Verhoef et al., J Am Coll Cardiol 1998; 32: 353 - 359).
The aim: To investigate the association between C677T polymorphism of MTHFR gene and development of HAPH.
Methods: We studied 123 subjects (56 HAPH patients and 67 healthy). All subjects were randomized by age, sex and altitude of residence (2500-4000 m). Mean pulmonary artery pressure (mPAP) was measured by right heart catheterization. HAPH was diagnosed when mPAP was above 25 mm Hg. The genotyping of MTHFR gene polymorphism was determined by PCR.
Results: Analysis of allele frequencies has revealed the higher proportion of the mutant allele (T) in the HAPH patients. Furthermore, the genetic analysis indicated that the prevalence of the homozygous T/T genotype was three-fold higher in HAPH patients compared to healthy subjects.
Thus, T allele and TT genotype of C677T polymorphism of MTHFR gene is associated with development of HAPH.

	Genotypes (number of patients)			Alleles (number of alleles)
	677 C/C	677 C/T	677 T/T	C	T
HAPH	0.34 (17)	0.49 (31)	0.18 (8)*	0.58 (65)	0.42 (47)**
Healthy	0.56 (36)	0.38 (28)	0.06 (3)	0.75 (100)	0.25 (34)

*x2 = 8.319, p = 0.01; **x2 = 7.604, p = 0.005

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A. A. Aldashev, B. K. Kojonazarov, O. A. Pak, J. T. Isakova, E. U. Usupova, M. M. Mirrakhimov, N. W. Morrell, M. R. Wilkins (Bishkek, Kyrgyzstan; Cambridge, United Kingdom). C677T polymorphism of methilenetetrahydrofolate reductase gene and high altitude pulmonary hypertension. Eur Respir J 2006; 28: Suppl. 50, 2361

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