{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Bossini-Castillo L"],"funding":["Versus Arthritis"],"pagination":["R273"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3674598"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["14(6)"],"pubmed_abstract":["<h4>Introduction</h4>Potassium voltage-gated channel shaker-related subfamily member 5 (KCNA5) is implicated in vascular tone regulation, and its inhibition during hypoxia produces pulmonary vasoconstriction. Recently, a protective association of the KCNA5 locus with systemic sclerosis (SSc) patients with pulmonary arterial hypertension (PAH) was reported. Hence, the aim of this study was to replicate these findings in an independent multicenter Caucasian SSc cohort.<h4>Methods</h4>The 2,343 SSc cases (179 PAH positive, confirmed by right-heart catheterization) and 2,690 matched healthy controls from five European countries were included in this study. Rs10744676 single-nucleotide polymorphism (SNP) was genotyped by using a TaqMan SNP genotyping assay.<h4>Results</h4>Individual population "],"journal":["Arthritis research & therapy"],"pubmed_title":["KCNA5 gene is not confirmed as a systemic sclerosis-related pulmonary arterial hypertension genetic susceptibility factor."],"pmcid":["PMC3674598"],"funding_grant_id":["17552"],"pubmed_authors":["Beretta L","Carreira P","Rodriguez-Rodriguez L","Garcia-Portales R","Gonzalez-Gay MA","Worthington J","van Laar JM","Martin J","Denton C","Tolosa C","Hesselstrand R","Lunardi C","Camps MT","Vonk MC","Callejas JL","Bossini-Castillo L","Herrick A","Shiels P","Spanish Scleroderma Group","Schuerwegh AJ","Fonseca C","Simeon CP","Radstake TR","Castellvi I","Broen J","Vicente-Rabaneda E","Egurbide MV"],"additional_accession":[]},"is_claimable":false,"name":"KCNA5 gene is not confirmed as a systemic sclerosis-related pulmonary arterial hypertension genetic susceptibility factor.","description":"<h4>Introduction</h4>Potassium voltage-gated channel shaker-related subfamily member 5 (KCNA5) is implicated in vascular tone regulation, and its inhibition during hypoxia produces pulmonary vasoconstriction. Recently, a protective association of the KCNA5 locus with systemic sclerosis (SSc) patients with pulmonary arterial hypertension (PAH) was reported. Hence, the aim of this study was to replicate these findings in an independent multicenter Caucasian SSc cohort.<h4>Methods</h4>The 2,343 SSc cases (179 PAH positive, confirmed by right-heart catheterization) and 2,690 matched healthy controls from five European countries were included in this study. Rs10744676 single-nucleotide polymorphism (SNP) was genotyped by using a TaqMan SNP genotyping assay.<h4>Results</h4>Individual population ","dates":{"release":"2012-01-01T00:00:00Z","publication":"2012 Dec","modification":"2026-04-08T16:50:25.763Z","creation":"2026-04-08T06:46:23.35Z"},"accession":"S-EPMC3674598","cross_references":{"pubmed":["23270786"],"doi":["10.1186/ar4124"]}}