838 C>A polymorphism of p27kip1 gene and development of high altitude pulmonary hypertension
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, London, United Kingdom)
Source: Annual Congress 2006 - Pulmonary hypertension: thromo-embolic processes
Session: Pulmonary hypertension: thromo-embolic processes
Session type: Thematic Poster Session
Number: 2360
Disease area: Pulmonary vascular diseases
Abstract Backgorund: Previously we have demonstrated association between gene polymorphisms and development of high altitude pulmonary hypertension (HAPH) and pulmonary arteries in highlanders with severe HAPH demonstrated hypertrophy of tunica media (Aldashev et al., AJRCCM 2002; 166: 1396-1402). The decrease of p27kip1 protein expression lead to activation of SMC proliferation, whereas C838A polymorphism of p27kip1 gene associated with higher expression of p27kip1 gene (Diez-Juan A., Andres V. Circ. Res. 2003; 92; 402-410). The aim: To investigate the association between 838 C>A polymorphism of p27kip1 gene and development of HAPH in Kyrgyz highlanders. Methods: We studied 148 highlanders (111 HAPH patients and 37 healthy subjects). Subjects were randomized by age, sex and altitude of residence (2500-4000 m above sea level). Mean pulmonary arterial pressure (mPAP) was measured by right heart catheterization. HAPH was diagnosed when mPAP was above 25 mm Hg. The genotyping of p27kip1 gene polymorphism was determined by PCR. Results: Analysis of allele and genotype frequencies revealed a two-fold higher frequency of the AA genotype associated with lower expression of p27kip1 gene in the patients with HAPH. The frequency of A allele in the patients with HAPH was also significantly higher.Thus, A allele and AA genotype 838 C>A polymorphism of p27kip1 gene associated with development of HAPH.
Genotypes (number of patients) Alleles (number of alleles) 838 C/C 838C/A 838A/A C A HAPH 0.20(24) 0.50(52) 0.30(35)* 0.45 (100) 0.55 (122)** Healthy 0.37 (12) 0.48(21) 0.15(4) 0.61(45) 0.39(29)
*x2 = 6.407, p = 0.04; **x2 = 5.520, p = 0.01.
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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, London, United Kingdom). 838 C>A polymorphism of p27kip1 gene and development of high altitude pulmonary hypertension. Eur Respir J 2006; 28: Suppl. 50, 2360
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