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Lookup NU author(s): Professor Jaap Van Laar
Introduction: 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. Methods: 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. Results: Individual population analyses of the selected KCNA5 genetic variant did not show significant association with SSc or any of the defined subsets (for example, limited cutaneous SSc, diffuse cutaneous SSc, anti-centromere autoantibody positive and anti-topoisomerase autoantibody positive). Furthermore, pooled analyses revealed no significant evidence of association with the disease or any of the subsets, not even the PAH-positive group. The comparison of PAH-positive patients with PAH-negative patients showed no significant differences among patients. Conclusions: Our data do not support an important role of KCNA5 as an SSc-susceptibility factor or as a PAH-development genetic marker for SSc patients.
Author(s): Bossini-Castillo L, Simeon CP, Beretta L, Broen J, Vonk MC, Callejas JL, Carreira P, Rodriguez-Rodriguez L, Garcia-Portales R, Gonzalez-Gay MA, Castellvi I, Camps MT, Tolosa C, Vicente-Rabaneda E, Egurbide MV, Schuerwegh AJ, Hesselstrand R, Lunardi C, van Laar JM, Shiels P, Herrick A, Worthington J, Denton C, Radstake TRDJ, Fonseca C, Martin J, Spanish Scleroderma Grp
Publication type: Article
Publication status: Published
Journal: Arthritis Research & Therapy
Year: 2012
Volume: 14
Issue: 6
Print publication date: 27/12/2012
Date deposited: 21/03/2013
ISSN (electronic): 1478-6354
Publisher: BioMed Central Ltd.
URL: http://dx.doi.org/10.1186/ar4124
DOI: 10.1186/ar4124
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