1. Evidence for the role of EPHX2 gene variants in anorexia nervosa
- Author
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Nicholas J. Schork, Vikas Bansal, D. B. Woodside, Erin N. Smith, K. Plotnicov, Katherine A. Halmi, Sathanur R. Srinivasan, Pierre J. Magistretti, Cynthia M. Bulik, Janet Treasure, Thomas Phillips, Manfred M. Fichter, Gerald S. Berenson, A. A. Scott-Van Zeeland, L. Galvez, Nathan E. Wineinger, M. La Via, Phillip H. Pham, Harry Brandt, Pamela K. Keel, Eric J. Topol, Vikas Duvvuri, Lisa R. Lilenfeld, Guangfa Zhang, Alessandro Rotondo, Scott J. Crow, Kelly L. Klump, Andrew W. Bergen, Sarah S. Murray, Wade H. Berrettini, Andrew R. Carson, Sybil L. Crawford, Burcu F. Darst, S. Levy, Pei-an Betty Shih, Craig Johnson, Ondrej Libiger, Ali Torkamani, Michael Strober, Cinnamon S. Bloss, Wai Chen, Rebecca L. Tisch, Nikki Villarasa, Walter H. Kaye, Allan S. Kaplan, James E. Mitchell, and Ryan Tewhey
- Subjects
Male ,Candidate gene ,Anorexia Nervosa ,Eating Disorders ,Medical and Health Sciences ,Body Mass Index ,Cohort Studies ,2.1 Biological and endogenous factors ,hyperlipidemia ,Longitudinal Studies ,Aetiology ,2. Zero hunger ,Genetics ,Psychiatry ,Epoxide Hydrolases ,Single Nucleotide ,sequencing ,Biological Sciences ,Middle Aged ,3. Good health ,Anorexia ,Psychiatry and Mental health ,Eating disorders ,Mental Health ,Cholesterol ,Anorexia nervosa (differential diagnoses) ,Female ,Original Article ,Adult ,Psychometrics ,European Continental Ancestry Group ,Biology ,Polymorphism, Single Nucleotide ,White People ,Cellular and Molecular Neuroscience ,Young Adult ,Clinical Research ,Genetic variation ,medicine ,genomics ,Humans ,Genetic Predisposition to Disease ,pooling ,Polymorphism ,Molecular Biology ,Genotyping ,Gene ,Nutrition ,Whites ,Human Genome ,Psychology and Cognitive Sciences ,Case-control study ,Genetic Variation ,medicine.disease ,EPHX2 ,Case-Control Studies ,Body mass index - Abstract
Anorexia nervosa (AN) and related eating disorders are complex, multifactorial neuropsychiatric conditions with likely rare and common genetic and environmental determinants. To identify genetic variants associated with AN, we pursued a series of sequencing and genotyping studies focusing on the coding regions and upstream sequence of 152 candidate genes in a total of 1205 AN cases and 1948 controls. We identified individual variant associations in the Estrogen Receptor-ß (ESR2) gene, as well as a set of rare and common variants in the Epoxide Hydrolase 2 (EPHX2) gene, in an initial sequencing study of 261 early-onset severe AN cases and 73 controls (P=0.0004). The association of EPHX2 variants was further delineated in: (1) a pooling-based replication study involving an additional 500 AN patients and 500 controls (replication set P=0.00000016); (2) single-locus studies in a cohort of 386 previously genotyped broadly defined AN cases and 295 female population controls from the Bogalusa Heart Study (BHS) and a cohort of 58 individuals with self-reported eating disturbances and 851 controls (combined smallest single locus P
- Published
- 2013