biostudies-literatureSIGMA Type 2 Diabetes ConsortiumNIDDK NIH HHSNHLBI NIH HHSNCI NIH HHS2305-14https://www.ebi.ac.uk/biostudies/studies/S-EPMC4425850biostudies-literatureUnknown311(22)<h4>Importance</h4>Latino populations have one of the highest prevalences of type 2 diabetes worldwide.<h4>Objectives</h4>To investigate the association between rare protein-coding genetic variants and prevalence of type 2 diabetes in a large Latino population and to explore potential molecular and physiological mechanisms for the observed relationships.<h4>Design, setting, and participants</h4>Whole-exome sequencing was performed on DNA samples from 3756 Mexican and US Latino individuals (1794 with type 2 diabetes and 1962 without diabetes) recruited from 1993 to 2013. One variant was further tested for allele frequency and association with type 2 diabetes in large multiethnic data sets of 14,276 participants and characterized in experimental assays.<h4>Main outcome and measures</h4>PrevaJAMAAssociation of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population.PMC4425850R35 CA053890R01 CA080205U01 DK062370R01 DK047482R01 CA80205R01DK053889R01 DK053889R01 CA144034R01 DK042273CA054281P30 DK020572P01 HL045522U01 CA063464R01 DK098032R01 CA055069P01HL045522CA063464R37 CA054281R01HL24799U01DK085501U01 CA164973R01 DK057295U01 DK057295R35CA53890U01 DK085501R01 DK033665U01DK085526U01 DK085526R01 CA063464R01 CA054281CA164973R01DK047482UM1 CA164973Florez JCBurtt NPEstrada KLehman DMNajmi LAHanis CLCortes MLLe Marchand LArellano-Campos OGonzalez-Villalpando MEMendoza-Caamal EOrozco LRodriguez-Guillen RGabriel SAbboud HEGarcia-Ortiz HMacArthur DGSoberon XNjolstad PRGomez-Vazquez MJBjorkhaug LBell GICenteno-Cruz FHuerta-Chagoya AIslas-Andrade SHenderson EMercader JMFontanillas PAltshuler DRevilla-Monsalve CWilliams ALCordova EJGonzalez-Villalpando CFernandez-Lopez JCAukrust IHaiman CAFernandez-Lopez ARiba LSIGMA Type 2 Diabetes ConsortiumRodriguez-Torres MJenkinson CPMartinez-Hernandez AFennell TTusie-Luna TAguilar-Salinas CAWalford GWilkens LRBoehnke MMoreno-Macias HJimenez-Morales SOrdonez-Sanchez MLHenderson BEJacobs SBFlannick JfalseAssociation of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population.<h4>Importance</h4>Latino populations have one of the highest prevalences of type 2 diabetes worldwide.<h4>Objectives</h4>To investigate the association between rare protein-coding genetic variants and prevalence of type 2 diabetes in a large Latino population and to explore potential molecular and physiological mechanisms for the observed relationships.<h4>Design, setting, and participants</h4>Whole-exome sequencing was performed on DNA samples from 3756 Mexican and US Latino individuals (1794 with type 2 diabetes and 1962 without diabetes) recruited from 1993 to 2013. One variant was further tested for allele frequency and association with type 2 diabetes in large multiethnic data sets of 14,276 participants and characterized in experimental assays.<h4>Main outcome and measures</h4>Preva2014-01-01T00:00:00Z2014 Jun2026-05-01T18:15:35.386Z2019-03-27T01:51:17ZS-EPMC44258502491526210.1001/jama.2014.6511