{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,14]],"date-time":"2024-05-14T00:08:44Z","timestamp":1715645324845},"reference-count":40,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":["ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circ Cardiovasc Genet"],"published-print":{"date-parts":[[2014,10]]},"abstract":"<jats:sec>\n            <jats:title>Background\u2014<\/jats:title>\n            <jats:p>\n              Hyperhomocysteinemia is a risk factor for cardiovascular disease. Coactivator-associated arginine methyltransferase 1 (\n              <jats:italic>CARM1<\/jats:italic>\n              ) participates in the synthesis of homocysteine, but whether the genetic variations regulate\n              <jats:italic>CARM1<\/jats:italic>\n              expression and homocysteine levels remains unknown.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods and Results\u2014<\/jats:title>\n            <jats:p>\n              Functional analyses combined with an association study were conducted to identify the causal variant for\n              <jats:italic>CARM1<\/jats:italic>\n              expression and homocysteine levels. Based on functional annotations obtained from Encyclopedia of DNA Elements, we selected 4 potentially functional single-nucleotide polymorphisms in the\n              <jats:italic>CARM1<\/jats:italic>\n              gene and investigated their effect on\n              <jats:italic>CARM1<\/jats:italic>\n              transcription levels in vivo. rs117569851, located in the promoter region of\n              <jats:italic>CARM1<\/jats:italic>\n              , as well as rs12460421 and rs4804544, was associated with\n              <jats:italic>CARM1<\/jats:italic>\n              expression levels, and the last 2 single-nucleotide polymorphisms were discovered in high linkage disequilibrium with rs117569851 (\n              <jats:italic>r<\/jats:italic>\n              <jats:sup>2<\/jats:sup>\n              =0.9 and 1.0) in our study sample. rs117569851 was further identified to be responsible for regulating\n              <jats:italic>CARM1<\/jats:italic>\n              expression. The T allele disrupted the binding of early growth response-1, which led to the downregulation of transcriptional activity in vitro and\n              <jats:italic>CARM1<\/jats:italic>\n              mRNA levels in vivo. In addition, rs117569851 was associated with plasma homocysteine levels in a Chinese population (n=406), with a 2.16 \u03bcmol\/L decrease per copy of T allele.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions\u2014<\/jats:title>\n            <jats:p>\n              The present study suggests that a noncoding variant in the\n              <jats:italic>CARM1<\/jats:italic>\n              -promoter functions as a regulator of gene transcription and homocysteine levels.\n            <\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/circgenetics.113.000408","type":"journal-article","created":{"date-parts":[[2014,7,27]],"date-time":"2014-07-27T01:34:11Z","timestamp":1406424851000},"page":"642-649","update-policy":"http:\/\/dx.doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Functional Analysis of Single-Nucleotide Polymorphisms in the Regulation of Coactivator-Associated Arginine Methyltransferase 1 Expression and Plasma Homocysteine Levels"],"prefix":"10.1161","volume":"7","author":[{"given":"Xuehui","family":"Liu","sequence":"first","affiliation":[{"name":"From the State Key Laboratory of Cardiovascular Disease, Division of Population Genetics, Fuwai Hospital and National Center of Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X. Liu, Y.H., L.W., H.L., X. Lu, J.C., Y.H., X.M., D.G.); State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.P.); and Department of..."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongchen","family":"Hao","sequence":"additional","affiliation":[{"name":"From the State Key Laboratory of Cardiovascular Disease, Division of Population Genetics, Fuwai Hospital and National Center of Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X. Liu, Y.H., L.W., H.L., X. Lu, J.C., Y.H., X.M., D.G.); State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.P.); and Department of..."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laiyuan","family":"Wang","sequence":"additional","affiliation":[{"name":"From the State Key Laboratory of Cardiovascular Disease, Division of Population Genetics, Fuwai Hospital and National Center of Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X. Liu, Y.H., L.W., H.L., X. Lu, J.C., Y.H., X.M., D.G.); State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.P.); and Department of..."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongfan","family":"Li","sequence":"additional","affiliation":[{"name":"From the State Key Laboratory of Cardiovascular Disease, Division of Population Genetics, Fuwai Hospital and National Center of Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X. Liu, Y.H., L.W., H.L., X. Lu, J.C., Y.H., X.M., D.G.); State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.P.); and Department of..."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiangfeng","family":"Lu","sequence":"additional","affiliation":[{"name":"From the State Key Laboratory of Cardiovascular Disease, Division of Population Genetics, Fuwai Hospital and National Center of Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X. Liu, Y.H., L.W., H.L., X. Lu, J.C., Y.H., X.M., D.G.); State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.P.); and Department of..."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Cao","sequence":"additional","affiliation":[{"name":"From the State Key Laboratory of Cardiovascular Disease, Division of Population Genetics, Fuwai Hospital and National Center of Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X. Liu, Y.H., L.W., H.L., X. Lu, J.C., Y.H., X.M., D.G.); State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.P.); and Department of..."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongyan","family":"Hu","sequence":"additional","affiliation":[{"name":"From the State Key Laboratory of Cardiovascular Disease, Division of Population Genetics, Fuwai Hospital and National Center of Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X. Liu, Y.H., L.W., H.L., X. Lu, J.C., Y.H., X.M., D.G.); State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.P.); and Department of..."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xingbo","family":"Mo","sequence":"additional","affiliation":[{"name":"From the State Key Laboratory of Cardiovascular Disease, Division of Population Genetics, Fuwai Hospital and National Center of Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X. Liu, Y.H., L.W., H.L., X. Lu, J.C., Y.H., X.M., D.G.); State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.P.); and Department of..."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaozhong","family":"Peng","sequence":"additional","affiliation":[{"name":"From the State Key Laboratory of Cardiovascular Disease, Division of Population Genetics, Fuwai Hospital and National Center of Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X. Liu, Y.H., L.W., H.L., X. Lu, J.C., Y.H., X.M., D.G.); State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.P.); and Department of..."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongfeng","family":"Gu","sequence":"additional","affiliation":[{"name":"From the State Key Laboratory of Cardiovascular Disease, Division of Population Genetics, Fuwai Hospital and National Center of Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X. Liu, Y.H., L.W., H.L., X. Lu, J.C., Y.H., X.M., D.G.); State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China (X.P.); and Department of..."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1753-4887.1992.tb02454.x"},{"key":"e_1_3_4_3_2","first-page":"1","article-title":"Production of arteriosclerosis by homocysteinemia.","volume":"61","author":"McCully KS","year":"1970","unstructured":"McCully KS, Ragsdale BD. Production of arteriosclerosis by homocysteinemia. Am J Pathol. 1970;61:1\u201311.","journal-title":"Am J Pathol"},{"key":"e_1_3_4_4_2","first-page":"111","article-title":"Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis.","volume":"56","author":"McCully KS","year":"1969","unstructured":"McCully KS. 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