{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T11:13:37Z","timestamp":1784546017035,"version":"3.55.0"},"reference-count":33,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2022,2,16]],"date-time":"2022-02-16T00:00:00Z","timestamp":1644969600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100011684","name":"Crohn\u2019s and Colitis Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100011684","id-type":"DOI","asserted-by":"crossref"}]},{"name":"National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) of the National Institutes of Health","award":["RO1-DK098231"],"award-info":[{"award-number":["RO1-DK098231"]}]},{"name":"National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) of the National Institutes of Health","award":["RO1-DK087694"],"award-info":[{"award-number":["RO1-DK087694"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,4,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Recently, we identified 1,189 CpG sites whose DNA methylation level in blood associated with Crohn\u2019s disease. Here, we examined associations between DNA methylation and genetic variants to identify methylation quantitative trait loci across disease states in (1) 402 blood samples from 164 newly diagnosed pediatric Crohn\u2019s disease patients taken at 2 time points (diagnosis and follow-up), and 74 non-inflammatory bowel disease controls, (2) 780 blood samples from a non-Crohn\u2019s disease adult population, and (3) 40 ileal biopsies (17 Crohn\u2019s disease cases and 23 non-inflammatory bowel disease controls) from group (1). Genome-wide DNAm profiling and genotyping were performed using the Illumina MethylationEPIC and Illumina Multi-Ethnic arrays. SNP-CpG associations were identified via linear models adjusted for age, sex, disease status, disease subtype, estimated cell proportions, and genotype-based principal components. In total, we observed 535,448 SNP-CpG associations between 287,881 SNPs and 12,843 CpG sites (P\u2009&amp;lt;\u20098.21\u2009\u00d7\u200910\u221214). Associations were highly consistent across different ages, races, disease states, and tissue types, suggesting that the majority of these methylation quantitative trait loci participate in common gene regulation. However, genes near CpGs associated with inflammatory bowel disease SNPs were enriched for 18 KEGG pathways relevant to inflammatory bowel disease-linked immune function and inflammatory responses. We observed suggestive evidence for a small number of tissue-specific associations and disease-specific associations in ileum, though larger studies will be needed to confirm these results. Our study concludes that the vast majority of blood-derived methylation quantitative trait loci are common across individuals, though a subset may be involved in processes related to Crohn\u2019s disease. Independent cohort studies will be required to validate these findings.<\/jats:p>","DOI":"10.1093\/g3journal\/jkac041","type":"journal-article","created":{"date-parts":[[2022,2,16]],"date-time":"2022-02-16T13:25:34Z","timestamp":1645017934000},"source":"Crossref","is-referenced-by-count":7,"title":["Methylation quantitative trait loci are largely consistent across disease states in Crohn\u2019s disease"],"prefix":"10.1093","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6158-5941","authenticated-orcid":false,"given":"Suresh","family":"Venkateswaran","sequence":"first","affiliation":[{"name":"Division of Pediatric Gastroenterology, Department of Pediatrics, Emory University School of Medicine & Children\u2019s Healthcare of Atlanta, Atlanta, GA 30322, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hari K","family":"Somineni","sequence":"additional","affiliation":[{"name":"Division of Pediatric Gastroenterology, Department of Pediatrics, Emory 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