{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Wang YJ"],"funding":["NHLBI NIH HHS","NIMHD NIH HHS","NHGRI NIH HHS"],"pagination":["e1004641"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4169380"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["10(9)"],"pubmed_abstract":["High blood pressure (BP) is the most common cardiovascular risk factor worldwide and a major contributor to heart disease and stroke. We previously discovered a BP-associated missense SNP (single nucleotide polymorphism)-rs2272996-in the gene encoding vanin-1, a glycosylphosphatidylinositol (GPI)-anchored membrane pantetheinase. In the present study, we first replicated the association of rs2272996 and BP traits with a total sample size of nearly 30,000 individuals from the Continental Origins and Genetic Epidemiology Network (COGENT) of African Americans (P=0.01). This association was further validated using patient plasma samples; we observed that the N131S mutation is associated with significantly lower plasma vanin-1 protein levels. We observed that the N131S vanin-1 is subjected to ra"],"journal":["PLoS genetics"],"pubmed_title":["The association of the vanin-1 N131S variant with blood pressure is mediated by endoplasmic reticulum-associated degradation and loss of function."],"pmcid":["PMC4169380"],"funding_grant_id":["P20 MD006899","R01 HG003054","HL086718","T32 HL007567","HL007567-29","HG003054","R01 HL053353","R01 HL086718","HL053353"],"pubmed_authors":["Psaty BM","Gottesman O","Cooper RS","Guo X","Rice K","Morrison AC","Chasman DI","Moore JH","Mosley TH","Williams SM","Fox E","Sung YJ","Rotimi CN","Keating BJ","Margolis K","Risch N","Weir DR","Musani SK","Palmas W","Edwards TL","Wang YJ","Redline S","Howard VJ","Chen WM","Adeyemo A","Levy D","Loos R","Feng T","Young J","Edwards DR","Nalls MA","Yanek LR","Becker LC","Schork NJ","Arnett D","COGENT BP consortium","Kardia SL","Vasan R","Zhao W","Lotay V","Tang H","Eaton C","Carty C","Papanicolaou G","Smith JA","Murray SS","Garcia ME","Ridker PM","Taylor KD","Reiner AP","Heiss G","Martin LW","Becker DM","Faul JD","Dreisbach AW","Hunt SC","Zhu X","Wiggins K","Salako B","Keene KL","Ogunniyi A","Rotter JI","Johnson AD","Andrews JS","Shriner D","Gao J","Boerwinkle E","Wang H","Zonderman AB","Rao D","Chen W","Keller MF","Chen G","Hirschhron JN","Franceschini N","Mu TW","Chen F","Broeckel U","Berenson G","Evans MK","Li Y","Sale MM","Elston RC","Penman A","Fornage M","Liu K","Tayo BO","Lettre G","Ding J","Bandyopadhyay A","Liu Y","Lanktree MB","Sun YV","Srinivasan S","Jensen R","Polak JF","Chakravarti A","Singleton AB","Cushman M","Nyberg F","Harris T","Duan Q","Guangfa Z","Bottinger E","Zhang Z"],"additional_accession":[]},"is_claimable":false,"name":"The association of the vanin-1 N131S variant with blood pressure is mediated by endoplasmic reticulum-associated degradation and loss of function.","description":"High blood pressure (BP) is the most common cardiovascular risk factor worldwide and a major contributor to heart disease and stroke. We previously discovered a BP-associated missense SNP (single nucleotide polymorphism)-rs2272996-in the gene encoding vanin-1, a glycosylphosphatidylinositol (GPI)-anchored membrane pantetheinase. In the present study, we first replicated the association of rs2272996 and BP traits with a total sample size of nearly 30,000 individuals from the Continental Origins and Genetic Epidemiology Network (COGENT) of African Americans (P=0.01). This association was further validated using patient plasma samples; we observed that the N131S mutation is associated with significantly lower plasma vanin-1 protein levels. We observed that the N131S vanin-1 is subjected to ra","dates":{"release":"2014-01-01T00:00:00Z","publication":"2014 Sep","modification":"2026-04-30T18:17:37.7Z","creation":"2019-03-27T01:36:01Z"},"accession":"S-EPMC4169380","cross_references":{"pubmed":["25233454"],"doi":["10.1371/journal.pgen.1004641"]}}