{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T07:59:17Z","timestamp":1780646357438,"version":"3.54.1"},"reference-count":31,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2002,9,3]],"date-time":"2002-09-03T00:00:00Z","timestamp":1031011200000},"content-version":"vor","delay-in-days":2,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2002,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hyperhomocysteinemia (HH) is a factor that predisposes individuals to thrombosis, and the C677T mutation in the 5,10\u2010methylenetetrahydrofolate reductase (MTHFR) is known to give increased plasma homocysteine. However, little is known about their roles in Budd\u2010Chiari syndrome (BCS). This study evaluated the roles of HH and the MTHFR C677T mutation in patients with BCS. We compared 41 BCS patients with 80 sex\u2010 and age\u2010matched healthy controls. The mean plasma homocysteine level was significantly higher in patients with BCS (20.15 \u00b1 5.78 \u03bcmol\/L) compared with normal controls (15.80 \u00b1 6.58 \u03bcmol\/L), <jats:italic>P<\/jats:italic> &lt; 0.01. HH (&gt;19.5 \u03bcmol\/L in men and &gt;15.0 \u03bcmol\/L in women) was detected in 15 (36.59%) patients and in 14 (17.5%) controls (odds ratio [OR], 2.72; 95% confidence internal [CI], 1.17\u20136.32). The prevalence of the mutated MTHFR 677TT genotype and the 677T allele in normal controls was 10.0% and 31.3%, respectively. The mutant 677T homozygotes and alleles were more frequent in patients with BCS than in controls (22.0% vs. 10.0%, 0.025 &lt; <jats:italic>P<\/jats:italic> &lt; 0.05; 45.1% vs. 31.3%, 0.025 &lt; <jats:italic>P<\/jats:italic> &lt; 0.05). The relative risk of BCS among the carriers of 677TT was significantly increased (OR, 3.3; 95% CI, 1.1\u201310.0). The mutant MTHFR heterozygous 677C\/T carriers were not significantly increased in patients with BCS compared with controls (46.3% vs. &lt; 2.5%, <jats:italic>P<\/jats:italic> &gt; 0.05). The relative risk OR of BCS among carriers of 677C\/T was 1.6 (95% CI, 0.7\u20133.6). This study suggests that both HH and the homozygous C677T mutation in the MTHFR gene are important risk factors of BCS. Am. J. Hematol. 71:11\u201314, 2002. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajh.10149","type":"journal-article","created":{"date-parts":[[2002,10,8]],"date-time":"2002-10-08T23:01:00Z","timestamp":1034118060000},"page":"11-14","source":"Crossref","is-referenced-by-count":53,"title":["Hyperhomocysteinemia and the MTHFR C677T mutation in Budd\u2010Chiari syndrome"],"prefix":"10.1002","volume":"71","author":[{"given":"Xiao\u2010Mei","family":"Li","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying\u2010Fei","family":"Wei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong\u2010Ling","family":"Hao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu\u2010Bin","family":"Hao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li\u2010Shan","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing\u2010Dong","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bing","family":"Mei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Su\u2010Yun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chao","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun\u2010Xiang","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun\u2010Zhen","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin\u2010Quan","family":"Liang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,9,3]]},"reference":[{"issue":"1","key":"e_1_2_1_2_2","first-page":"27","article-title":"The Buddi\u2010Chiari syndrome revisited","volume":"2","author":"Shill M","year":"1994","journal-title":"Gastroenterologist"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.302.6770.192"},{"issue":"4","key":"e_1_2_1_4_2","first-page":"777","article-title":"Budd\u2010Chiari syndrome attributed to protein C deficiency","volume":"91","author":"Sugano S","year":"1996","journal-title":"Am J Gastroenterol"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8278(00)80218-4"},{"key":"e_1_2_1_6_2","first-page":"526","article-title":"Budd\u2010Chiari syndrome and factor V Leiden mutation","volume":"345","author":"Mahmound AE","year":"1995","journal-title":"Lancet"},{"issue":"2","key":"e_1_2_1_7_2","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1055\/s-0037-1615008","article-title":"Budd\u2010Chiari syndrome in a patient heterozygous for the G20210A mutation of the prothrombin gene","volume":"79","author":"Bucciarelli P","year":"1998","journal-title":"Thromb Haemost"},{"issue":"6","key":"e_1_2_1_8_2","doi-asserted-by":"crossref","first-page":"874","DOI":"10.1055\/s-0037-1615380","article-title":"Hyperhomocysteinemia and venous thrombosis: a meta\u2010analysis","volume":"80","author":"den Heijer M","year":"1998","journal-title":"Thromb Haemost"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1024\/0301-1526.28.3.151"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199603213341203"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0595-111"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/0026-0495(88)90076-5"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.ATV.17.9.1662"},{"issue":"1","key":"e_1_2_1_14_2","first-page":"35","article-title":"Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease","volume":"58","author":"Kluijtmans LA","year":"1996","journal-title":"Am J Hum Genet"},{"issue":"5","key":"e_1_2_1_15_2","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1055\/s-0038-1656059","article-title":"The mutation Ala677\u2192Val in the methylene tetrahydrofolate reductase gene: a risk factor for arterial disease and venous thrombosis","volume":"77","author":"Arruda VR","year":"1997","journal-title":"Thromb Haemost"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/0021-9673(92)80283-Z"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-123-10-199511150-00002"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.ATV.14.7.1080"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(95)90008-X"},{"issue":"5","key":"e_1_2_1_20_2","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/S0049-3848(01)00262-6","article-title":"Importance of hyperhomocysteinemia as a risk factor for venous thromboembolism in a Taiwanese population. A case\u2013control study","volume":"102","author":"Hsu T","journal-title":"Thromb Res"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(00)00789-3"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.160.7.961"},{"issue":"7","key":"e_1_2_1_23_2","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1001\/jama.1992.03490070059042","article-title":"A prospective study of plasma homocyst(e)ine and risk of myocardial infarction in US physicians","volume":"268","author":"Stampfer MJ","year":"1992","journal-title":"JAMA"},{"issue":"4","key":"e_1_2_1_24_2","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1093\/ajcn\/59.4.940","article-title":"Plasma homocyst(e)ine, folate, and vitamin B12 concentrations and risk for early\u2010onset coronary artery disease","volume":"59","author":"Pancharuniti N","year":"1994","journal-title":"Am J Clin Nutr"},{"key":"e_1_2_1_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/0021-9150(96)05890-X"},{"key":"e_1_2_1_26_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.ATV.13.9.1327"},{"key":"e_1_2_1_27_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V75.4.895.895"},{"issue":"4","key":"e_1_2_1_28_2","doi-asserted-by":"crossref","first-page":"1285S","DOI":"10.1093\/jn\/126.suppl_4.1285S","article-title":"Homocysteine and hemostasis: pathogenic mechanisms predisposing to thrombosis","volume":"126","author":"Harpel PC","year":"1996","journal-title":"J Nutr"},{"issue":"9","key":"e_1_2_1_29_2","first-page":"824","article-title":"C677T substitution in the methylenetetrahydrofolate reductase gene as a risk factor for venous thrombosis and arterial disease in selected patients","volume":"84","author":"Gemmati D","year":"1999","journal-title":"Haematologica"},{"key":"e_1_2_1_30_2","doi-asserted-by":"publisher","DOI":"10.1159\/000056296"},{"issue":"1","key":"e_1_2_1_31_2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1182\/blood.V90.1.1","article-title":"Homocysteine and thrombotic disease","volume":"90","author":"D'Angelo A","year":"1997","journal-title":"Blood"},{"key":"e_1_2_1_32_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1993.03510220049033"}],"container-title":["American Journal of Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajh.10149","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajh.10149","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T22:23:51Z","timestamp":1700259831000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajh.10149"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,9]]},"references-count":31,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2002,9]]}},"alternative-id":["10.1002\/ajh.10149"],"URL":"https:\/\/doi.org\/10.1002\/ajh.10149","archive":["Portico"],"relation":{},"ISSN":["0361-8609","1096-8652"],"issn-type":[{"value":"0361-8609","type":"print"},{"value":"1096-8652","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,9]]}}}