Genetics of IBD

Inflammatory bowel disease (IBD) involves chronic inflammation of all or part of the digestive tract. IBD primarily includes ulcerative colitis and Crohn’s disease. Familial aggregation and higher concordance rates in monozygotic than dizygotic twins have provided robust evidence for the involvement of genetic factors in the disease etiology. An important epidemiological feature of IBD is that it occurs at significantly different frequencies in different ethnic, demographic and racial groups, and has the highest prevalence among individuals of Ashkenazi Jewish descent.

We are taking advantage of an ongoing recruitment and the world class Division of Gastroenterology at Mount Sinai to conduct genetic, genomic, microbiome, systems biology and functional studies of IBD with the focus on the Ashkenazi Jewish population. We are particularly interested in large families with multiple affected individuals. Our goal is to detect genetic mutations that significantly contribute to the development of IBD and functionally validate them. This knowledge of the genetic risk may help identify individuals at high risk of developing the disease and discover new pharmaceutical targets to prevent, postpone and/or treat IBD.

Also see: Linking the gut and the brain: IBD – Parkinson’s disease Study


Publications: Inflammatory Bowel Disease

Peter I, Michell AA, Ozelius L, Erazo M, Hu J, Doehny D, Abrue MT, Present DH, Ullman T, Korelitz B, Mayer L, Desnick RJ and The New York Crohn’s Disease Working Group. Evaluation of 22 Genetic Variants with Crohn’s Disease Risk in the Ashkenazi Jewish Population: a Case-Control Study. BMC Medical Genetics 2011 May 6;12(1):63. PMID:21548950

Kenny EE, Pe’er I, Karban A, Ozelius L, Mitchell AA, Ng SM, Erazo M, Ostrer H, Abraham C, Abreu MT, Atzmon G, Barzilai N, Brant S, Burns ER, Chowers Y, Clark LN, Darvasi A, Doheny D, Duerr RH, Eliakim R, Giladi N, Gregersen PK, Hakonarson H, Jones MR, McGovern DPB, Mulle J, Orr-Urtreger A, Proctor DD, Pulver A, Rotter JI, Silverberg MS, Ullman T, Warren ST, Waterman M, Zhang W, Bergman A, Mayer L, Katz S, Desnick RJ, Cho JH, Peter I. A Genome-Wide Scan of Ashkenazi Jewish Crohn’s Disease Suggests Novel Susceptibility Loci. PLoS Genet, 2012 Mar;8(3):e1002559. PMID:22412388

Zhang W, Hui KY, Gusev A, Warner N, Ng SM, Ferguson J, Choi M, Burberry A, Abraham C, Mayer L, Desnick RJ, Cardinale CJ, Hakonarson H, Waterman M, Chowers Y, Karban A, Brant SR, Silverberg MS, Gregersen PK, Katz S, Lifton RP, Zhao H, Nuñez G, Pe’er I, Peter I, Cho JH. Extended haplotype association study in Crohn’s disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3.Genes Immun. 2013 Jul-Aug;14(5):310-6. PMID: 23615072

Hu J, Peter I. Evidence of Expression Variation and Allelic Imbalance in Crohn’s Disease Susceptibility Genes NOD2 and ATG16L1 in Human Dendritic Cells. Gene. 2013 Sep 25;527(2):496-502. PMID: 23850724


Please feel free to contact us with any questions

You can contact our study coordinator, Anketse Debebe, at 925-209-8328. Questions can also be emailed to her at