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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. To identify and characterize polymorphisms/genes that increases the susceptibility to IPAH using MDR analysis. 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. 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. MDR method can be useful in understanding the role of epistatic and gene-environmental interactions in pathogenesis of IPAH.


Shivani Vadapalli, M L Satyanarayana, K L Chaitra, H Surekh Rani, B K S Sastry, Pratibha Nallari. Epistatic interactions in idiopathic pulmonary arterial hypertension. Indian journal of human genetics. 2012 Jan;18(1):56-61

PMID: 22754222

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