[Association between OR2T3 gene and pulmonary arterial hypertension].

Objective: To explore the pathogenic genes of pulmonary arterial hypertension (PAH) and validate the association between OR2T3 gene and PAH.

Methods: Whole exome sequencing was performed in four patients and one healthy person as control in two pulmonary arterial hypertension pedigree; patient-specific variations were screened by bioinformatics methods and comparison between groups. To further analyze the association between these variations and PAH, Sanger sequencing was used to analyze the genotype of patient-specific variations of 30 patients with idiopathic PAH, 90 healthy people and 30 patients with chronic thromboembolic pulmonary hypertension.

Results: The preliminary findings of whole exome sequencing were 57 variations may be associated with PAH; Among them, there were 6 AG heterozygotes due to OR2T3rs148748995 in the 30 idiopathic PAH patients, while no G allele carrier was found in other healthy people of two pulmonary arterial hypertension pedigree (AⅠ-1, AⅡ-3, BⅡ-1) and 90 normal control, and the difference was statistically significant (P<0.05). The variation also didn't exist in 30 chronic thromboembolic pulmonary hypertension patients.

Conclusion: OR2T3 gene may be the pathogenic gene of PAH and OR2T3rs148748995 could have a role in the development of PAH.