{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Hawe JS"],"funding":["MOH | National Medical Research Council","British Heart Foundation","Medical Research Council","NIMH NIH HHS","NHLBI NIH HHS","National Institute for Health Research (NIHR)","Wellcome Trust","Biotechnology and Biological Sciences Research Council"],"pagination":["18-29"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7617265"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["54(1)"],"pubmed_abstract":["We determined the relationships between DNA sequence variation and DNA methylation using blood samples from 3,799 Europeans and 3,195 South Asians. We identify 11,165,559 SNP-CpG associations (methylation quantitative trait loci (meQTL), P < 10<sup>-14</sup>), including 467,915 meQTL that operate in trans. The meQTL are enriched for functionally relevant characteristics, including shared chromatin state, High-throuhgput chromosome conformation interaction, and association with gene expression, metabolic variation and clinical traits. We use molecular interaction and colocalization analyses to identify multiple nuclear regulatory pathways linking meQTL loci to phenotypic variation, including UBASH3B (body mass index), NFKBIE (rheumatoid arthritis), MGA (blood pressure) and COMMD7 (white cel"],"journal":["Nature genetics"],"pubmed_title":["Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function."],"pmcid":["PMC7617265"],"funding_grant_id":["081917","BB/S020845/1","G0500539","214274/Z/18/Z","10371","BB/J004480/1","RP-PG-0407-10371","081917/Z/07/Z","R01 HL087679","G0601966","084723","G1002319","RG/14/5/30893","R01 MH063706","084723/Z/08/Z","16/136/68","CL-2018-21-501","212945/Z/18/Z","G0600705","NMRC/STaR/0028/2017","MC_UP_1605/7","RL1 MH083268","SP/04/002","G0700931","MR/L007150/1"],"pubmed_authors":["McCarthy MI","Wilson R","Grallert H","Peters A","Ainali C","Bernard M","Bourgeois S","Shin J","Prokisch H","Lindgren CM","Spector TD","Zondervan KT","Parts L","Meitinger T","Durbin R","Knowles D","Gieger C","Ingle C","Surdulescu G","Tan WLW","Lee DP","Tsoka S","Min JL","Jarvelin MR","Strauch K","MuTHER Consortium","Dimas AS","Glass D","Krestyaninova M","Foo RSY","Yew YW","Merl-Pham J","Buil A","Wilk A","Ahmadi KR","Bell JT","Meduri E","Tsaprouni L","Karhunen V","Rathmann W","Pfeiffer L","Waldenberger M","Grundberg E","Montgomery SB","Potter S","Hauck SM","Barbosa EGV","Barrett A","Illig T","Lowe CE","Scott WR","Deloukas P","Yang TP","di Meglio P","Lehne BC","Nisbet J","Hedman AK","Heinig M","Nica AC","Dermitzakis ET","Hawe JS","Hassanali N","Soranzo N","Zhou L","Matias-Garcia PR","Kooner JS","Autio MI","Roden M","Wielscher M","Bataille V","Sekowska M","Baumbach C","Zhang W","Loh M","Sandling J","Paus T","Chambers JC","Small KS","Lakshmanan LN","Nestle FO","Schmid KT","Pausova Z","Shin SY","Herder C","Sebert S","Marouli E","Travers ME","O'Rahilly S","Kuhnel B"],"additional_accession":[]},"is_claimable":false,"name":"Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function.","description":"We determined the relationships between DNA sequence variation and DNA methylation using blood samples from 3,799 Europeans and 3,195 South Asians. We identify 11,165,559 SNP-CpG associations (methylation quantitative trait loci (meQTL), P < 10<sup>-14</sup>), including 467,915 meQTL that operate in trans. The meQTL are enriched for functionally relevant characteristics, including shared chromatin state, High-throuhgput chromosome conformation interaction, and association with gene expression, metabolic variation and clinical traits. We use molecular interaction and colocalization analyses to identify multiple nuclear regulatory pathways linking meQTL loci to phenotypic variation, including UBASH3B (body mass index), NFKBIE (rheumatoid arthritis), MGA (blood pressure) and COMMD7 (white cel","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Jan","modification":"2026-06-02T18:12:54.629Z","creation":"2025-04-04T19:48:07.993Z"},"accession":"S-EPMC7617265","cross_references":{"pubmed":["34980917"],"doi":["10.1038/s41588-021-00969-x"]}}