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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 18, No. 1, 2012, pp. 56-61
Bioline Code: hg12009
Full paper language: English
Document type: Research Article
Document available free of charge

Indian Journal of Human Genetics, Vol. 18, No. 1, 2012, pp. 56-61

 en Epistatic interactions in idiopathic pulmonary arterial hypertension
Vadapalli, Shivani; Satyanarayana, M L.; Chaitra, K L.; Rani, H Surekh.; Sastry, B.K.S. & Nallari, Pratibha


Background : Idiopathic pulmonary arterial hypertension (IPAH) is a poorly understood complex disorder, which results in progressive remodeling of the pulmonary artery that ultimately leads to right ventricular failure. A two-hit hypothesis has been implicated in pathogenesis of IPAH, according to which the vascular abnormalities characteristic of PAH are triggered by the accumulation of genetic and/or environmental insults in an already existing genetic background. The multifactor dimensionality reduction (MDR) analysis is a statistical method used to identify gene-gene interaction or epistasis and gene-environment interactions that are associated with a particular disease. The MDR method collapses high-dimensional genetic data into a single dimension, thus permitting interactions to be detected in relatively small sample sizes.
Aim: To identify and characterize polymorphisms/genes that increases the susceptibility to IPAH using MDR analysis.
Materials and Methods: A total of 77 IPAH patients and 100 controls were genotyped for eight polymorphisms of five genes (5HTT, EDN1, NOS3, ALK-1, and PPAR-γ2). MDR method was adopted to determine gene-gene interactions that increase the risk of IPAH.
Results : With MDR method, the single-locus model of 5HTT (L/S) polymorphism and the combination of 5HTT(L/S), EDN1(K198N), and NOS3(G894T) polymorphisms in the three-locus model were attributed to be the best models for predicting susceptibility to IPAH, with a P value of 0.05.
Conclusion: MDR method can be useful in understanding the role of epistatic and gene-environmental interactions in pathogenesis of IPAH.

Gene-gene interactions, Idiopathic pulmonary arterial hypertension, multifactor dimensionality reduction, multilocus genotypes, polymorphisms

© Copyright 2012 Indian Journal of Human Genetics.
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