Identification of potential susceptibility genes in patients with primary Sjogren's syndrome-associated pulmonary arterial hypertension through whole exome sequencing.

ABSTRACT:

Background

Pulmonary arterial hypertension (PAH) is a rare complication of primary Sjögren's syndrome (pSS). Several genes have proven to be associated with pSS and PAH. However, there is no study specifically addressing the genetic susceptibility in pSS combined with PAH.

Methods

Thirty-four unrelated patients with pSS-PAH were recruited from April 2019 to July 2021 at Peking Union Medical College Hospital. Demographic and clinical data were recorded in detail, and peripheral blood samples were collected for whole-exome sequencing (WES). Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis were performed to predict the functional effect of mutant genes. Genetic variants identified by WES were confirmed by polymerase chain reaction (PCR)-San

SUBMITTER: Li M 

PROVIDER: S-EPMC10510152 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature