{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T12:51:33Z","timestamp":1756385493977,"version":"3.37.3"},"reference-count":22,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2017,8,23]],"date-time":"2017-08-23T00:00:00Z","timestamp":1503446400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Medicine Collaborative Innovation Center of Yunnan Province and Medical Scientific Research Project, Health and Family Planning Commission of Lanzhou","award":["LZWSKY2014-1-02"],"award-info":[{"award-number":["LZWSKY2014-1-02"]}]},{"name":"International Cooperative Research of Translational Medicine for Congenital Heart Defects, Ministry of Science and Technology of P. R. 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Five variants of the genome\u2010wide significant homocysteine\u2010related genes were selected for analysis in two stages of case\u2010controlled studies with a total of 904 CCSD patients and 997 controls. <jats:italic>SYT9<\/jats:italic> expression was detected in human cardiovascular tissue using qRT\u2010PCR. The intronic variant rs11041321 of the <jats:italic>SYT9<\/jats:italic> gene was associated with an increased risk of developing CCSDs in both the separate and combined case\u2010controlled studies. Combined samples from the two stage cohorts had a significant elevation in CCSD risk for the T allele (OR\u2009=\u20091.43, <jats:italic>P<\/jats:italic>\u2009=\u20092.6 \u00d7 10<jats:sup>\u22126<\/jats:sup>), CT genotype and TT genotype (CT: OR\u2009=\u20091.30, TT: OR\u2009=\u20092.21; <jats:italic>P<\/jats:italic>\u2009=\u20091 \u00d7 10<jats:sup>\u22124<\/jats:sup>) compared with the wild\u2010type C allele and CC genotype, respectively. The risky T allele carriers exhibited decreased <jats:italic>SYT9<\/jats:italic> mRNA expression, compared with wild\u2010type C allele carriers. The intronic <jats:italic>SYT9<\/jats:italic> variant rs11041321, which exhibits a significant genome\u2010wide association with circulating homocysteine, was associated with the occurrence of CCSDs. This finding helps to characterize the unexpected role of <jats:italic>SYT9<\/jats:italic> in homocysteine metabolism and the development of CCSDs, which further highlighted the interplay of diet, genetics, and human birth defects. \u00a9 2017 IUBMB Life, 69(9):700\u2013705, 2017<\/jats:p>","DOI":"10.1002\/iub.1651","type":"journal-article","created":{"date-parts":[[2017,8,24]],"date-time":"2017-08-24T11:06:39Z","timestamp":1503572799000},"page":"700-705","source":"Crossref","is-referenced-by-count":5,"title":["A genetic variant in a homocysteine metabolic gene that increases the risk of congenital cardiac septal defects in Han Chinese populations"],"prefix":"10.1002","volume":"69","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2405-2214","authenticated-orcid":false,"given":"Han\u2010Hui","family":"Xie","sequence":"first","affiliation":[{"name":"Key Laboratory of Preclinical Study for New Drugs of Gansu Province, School of Basic Medical Sciences Lanzhou University Lanzhou 730000 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiong","family":"Li","sequence":"additional","affiliation":[{"name":"Key Laboratory of Preclinical Study for New Drugs of Gansu Province, School of Basic Medical Sciences Lanzhou University Lanzhou 730000 China"},{"name":"Gansu Cardiovascular Institute Lanzhou 730050 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pei\u2010Qiang","family":"Li","sequence":"additional","affiliation":[{"name":"Key Laboratory of Preclinical Study for New Drugs of Gansu Province, School of Basic Medical Sciences Lanzhou University Lanzhou 730000 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"An\u2010An","family":"Zhang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Preclinical Study for New Drugs of Gansu Province, School of Basic Medical Sciences Lanzhou University Lanzhou 730000 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Li","sequence":"additional","affiliation":[{"name":"Key Laboratory of Preclinical Study for New Drugs of Gansu Province, School of Basic Medical Sciences Lanzhou University Lanzhou 730000 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan\u2010Zhen","family":"Wang","sequence":"additional","affiliation":[{"name":"Gansu Cardiovascular Institute Lanzhou 730050 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ding\u2010Xiong","family":"Xie","sequence":"additional","affiliation":[{"name":"Gansu Cardiovascular Institute Lanzhou 730050 China"},{"name":"The Second Hospital of Lanzhou University, Lanzhou 730030 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao\u2010Dong","family":"Xie","sequence":"additional","affiliation":[{"name":"Key Laboratory of Preclinical Study for New Drugs of Gansu Province, School of Basic Medical Sciences Lanzhou University Lanzhou 730000 China"},{"name":"Gansu Cardiovascular Institute Lanzhou 730050 China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,8,23]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa060900"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.3945\/an.112.002758"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11154-012-9215-7"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0049-3848(01)00262-6"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa054025"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcn\/81.1.147"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(05)70152-5"},{"key":"e_1_2_7_9_1","first-page":"27","article-title":"Homocysteine and cardiovascular disease: should we treat?","volume":"29","author":"Potter K.","year":"2008","journal-title":"Clin. 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