Pulmonary Hypertension Associated Genetic Variants in Sarcoidosis Associated Pulmonary Hypertension.

Karlijn GroenMarloes P HuitemaJoanne J van der VisMarco C PostJan C GruttersRobert P BaughmanColine H M van Moorsel

Published in: Diagnostics (Basel, Switzerland) (2022)

The increased frequency of variants in PH genes in SAPH suggests a mechanism whereby the presence of such a genetic variant in a patient may increase risk for the development of PH in the context of pulmonary sarcoidosis. Replication and studies into the functionality of the variants are required for further understanding the pathogenesis of SAPH.

Keyphrases

pulmonary hypertension
copy number
genome wide
pulmonary artery
pulmonary arterial hypertension
dna methylation
case control
coronary artery
gene expression
genome wide identification
transcription factor