{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T17:01:46Z","timestamp":1773421306238,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2004,4,13]],"date-time":"2004-04-13T00:00:00Z","timestamp":1081814400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2004,6]]},"abstract":"<jats:p>Plasma total homocysteine (tHcy) concentration, an independent risk factor of atherosclerosis, has numerous genetic and environmental determinants. While the thermolabile polymorphism in <jats:italic>MTHFR<\/jats:italic> encoding methylenetetrahydrofolate reductase is the best\u2010studied genetic factor associated with variation in plasma tHCy, other candidate genes are being evaluated. Recently, we discovered that cystathioninuria was caused by mutations in the <jats:italic>CTH<\/jats:italic> gene encoding cystathionine \u03b3\u2010lyase, an enzyme that converts cystathionine to cysteine in the trans\u2010sulfuration pathway. We also identified a common single nucleotide polymorphism (SNP), namely c.1364G&gt;T (S403I) in exon 12 of <jats:italic>CTH<\/jats:italic>. In the current analysis, we studied the association of genotypes of this SNP with plasma tHcy concentrations in 496 Caucasian subjects. <jats:italic>CTH<\/jats:italic> 1364T\/T homozygotes had significantly higher mean plasma tHcy concentration than subjects with other genotypes, and the effect sizes of <jats:italic>CTH<\/jats:italic> and <jats:italic>MTHFR<\/jats:italic> genotypes were similar. The findings suggest that common variation in <jats:italic>CTH<\/jats:italic> may be a determinant of plasma tHcy concentrations.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2004.00250.x","type":"journal-article","created":{"date-parts":[[2004,5,18]],"date-time":"2004-05-18T09:04:14Z","timestamp":1084871054000},"page":"483-486","source":"Crossref","is-referenced-by-count":51,"title":["Single nucleotide polymorphism in <i>CTH<\/i> associated with variation in plasma homocysteine concentration"],"prefix":"10.1111","volume":"65","author":[{"given":"J","family":"Wang","sequence":"first","affiliation":[]},{"given":"AM","family":"Huff","sequence":"additional","affiliation":[]},{"given":"JD","family":"Spence","sequence":"additional","affiliation":[]},{"given":"RA","family":"Hegele","sequence":"additional","affiliation":[]}],"member":"311","published-online":{"date-parts":[[2004,5,18]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/35025203"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1258\/000456303321016169"},{"key":"e_1_2_6_4_2","volume-title":"The metabolic and molecular bases of inherited disease","author":"Mudd SH","year":"1995"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.11.1857"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.12.1859"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0694-195"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9150(03)00010-8"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9150(02)00204-6"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9150(02)00065-5"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/48.9.1383"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-003-0906-8"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1753-4887.1992.tb02454.x"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1515\/CCLM.2001.123"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0026-0495(99)90121-X"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.STR.30.5.969"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1097\/00004872-200307000-00018"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11906-003-0007-z"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jhh.1001524"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-138-11-200306030-00010"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2004.00250.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2004.00250.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T16:01:45Z","timestamp":1697212905000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2004.00250.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,5,18]]},"references-count":19,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2004,6]]}},"alternative-id":["10.1111\/j.1399-0004.2004.00250.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2004.00250.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,5,18]]}}}