title: Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.
abstract: We performed a genome-wide association study (GWAS) of 1550 North American celiac disease cases and 3084 controls. Twelve SNPs, distributed across four regions (3p21.31, 4q27, 6q15, 6q25), were significantly associated with disease (p-value <1.0×10-7), and a further seven SNPs, across four additional regions (1q24.3, 10p15.1, 6q22.31, 17q21.32) had suggestive evidence (1.0×10-7 < p-value < 1.0×10-6). This study replicated a previous suggestive association within FRMD4B (3p14.1), confirming it as a celiac disease locus. All four regions with significant associations and two regions with suggestive results (1q24.3, 10p15.1) were known disease loci. The 6q22.31 and 10p11.23 regions were not replicated. A total of 410 SNPs distributed across the eight significant and suggestive regions were tested for association with dermatitis herpetiformis and microscopic colitis. Preliminary, suggestive statistical evidence for association with the two traits was found at chromosomes 3p21.31, 6q15, 6q25, 1q24.3 and 10p11.23, with future studies being required to validate the reported associations.
authors.affiliation: Epidemiology Department, School of Medicine, University of California Irvine, Irvine, California, United States of America.
authors.forename: Chad
authors.initials: C
authors.lastname: Garner
authors.affiliation: Epidemiology Department, School of Medicine, University of California Irvine, Irvine, California, United States of America.
authors.forename: Richard
authors.initials: R
authors.lastname: Ahn
authors.affiliation: Population Sciences Department, Beckman Research Institute of City of Hope, Duarte, California, United States of America.
authors.forename: Yuan Chun
authors.initials: YC
authors.lastname: Ding
authors.affiliation: Population Sciences Department, Beckman Research Institute of City of Hope, Duarte, California, United States of America.
authors.forename: Linda
authors.initials: L
authors.lastname: Steele
authors.affiliation: Division of Gastroenterology and Hepatology, Department of Immunology, Mayo Clinic, Rochester, MN, United States of America.
authors.forename: Samantha
authors.initials: S
authors.lastname: Stoven
authors.affiliation: Celiac Disease Center, Columbia University, New York City, New York, United States of America.
authors.forename: Peter H
authors.initials: PH
authors.lastname: Green
authors.affiliation: Center for Celiac Research, MassGeneral Hospital for Children, Boston, MA, United States of America.
authors.forename: Alessio
authors.initials: A
authors.lastname: Fasano
authors.affiliation: Division of Gastroenterology and Hepatology, Department of Immunology, Mayo Clinic, Rochester, MN, United States of America.
authors.forename: Joseph A
authors.initials: JA
authors.lastname: Murray
authors.affiliation: Population Sciences Department, Beckman Research Institute of City of Hope, Duarte, California, United States of America.
authors.forename: Susan L
authors.initials: SL
authors.lastname: Neuhausen
mesh_terms: D000569:Americas / Q000453:epidemiology; D002446:Celiac Disease / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D046728:Colitis, Microscopic / Q000150:complications / Q000235:genetics; D003874:Dermatitis Herpetiformis / Q000150:complications / Q000235:genetics; D056426:Genetic Loci / Q000235:genetics*; D055106:Genome-Wide Association Study; D006801:Humans; D020641:Polymorphism, Single Nucleotide