Novel insight into the genetic basis of high-altitude pulmonary hypertension in Kyrgyz highlanders.

ABSTRACT: The Central Asian Kyrgyz highland population provides a unique opportunity to address genetic diversity and understand the genetic mechanisms underlying high-altitude pulmonary hypertension (HAPH). Although a significant fraction of the population is unaffected, there are susceptible individuals who display HAPH in the absence of any lung, cardiac or hematologic disease. We report herein the analysis of the whole-genome sequencing of healthy individuals compared with HAPH patients and other controls (total n = 33). Genome scans reveal selection signals in various regions, encompassing multiple genes from the first whole-genome sequences focusing on HAPH. We show here evidence of three candidate genes MTMR4, TMOD3 and VCAM1 that are functionally associated with well-known molecular and path

SUBMITTER: Iranmehr A 

PROVIDER: S-EPMC6303266 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature