{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T20:58:36Z","timestamp":1790974716971,"version":"4.1.0"},"reference-count":41,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2012,7,27]],"date-time":"2012-07-27T00:00:00Z","timestamp":1343347200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Methylenetetrahydrofolate reductase (<jats:italic>MTHFR<\/jats:italic>), an important enzyme in folate metabolism, is thought to be involved in the development of nonsyndromic orofacial clefts (NSOC). However, conflicting results have been achieved when evaluating the associations between infants' <jats:italic>MTHFR<\/jats:italic> C677T and A1298C polymorphisms and the risk of NSOC. To obtain more precise estimations of these associations, a meta\u2010analysis recruiting 17 case\u2013control studies was performed. Among Asians we found that CT heterozygote, TT homozygote, and CT\/TT of infants' <jats:italic>MTHFR<\/jats:italic> C677T variant could contribute to elevated risks of NSOC, compared with CC wild\u2010type homozygote (OR\u2009=\u20091.741, 95% CI\u2009=\u20091.043\u20132.907 for CT vs. CC, OR\u2009=\u20092.311, 95% CI\u2009=\u20091.313\u20134.041 for TT vs. CC, and OR\u2009=\u20091.740, 95% CI\u2009=\u20091.051\u20132.882 for CT\/TT vs. CC, respectively). Similar effect was also observed on <jats:italic>MTHFR<\/jats:italic> 677T T allele, when using C allele as a reference in Asians (OR\u2009=\u20091.420, 95% CI\u2009=\u20091.191\u20131.693, for T allele vs. C allele). Furthermore, in stratified analysis by types of disease, CT\/CC was suggested to confer decreased susceptibility to CL\/P under recessive genetic model (OR\u2009=\u20090.854, 95% CI\u2009=\u20090.730\u20131.000). For <jats:italic>MTHFR<\/jats:italic> A1298C, the <jats:italic>MTHFR<\/jats:italic> 1298C allele in the case group of Caucasians was significantly lower than that in the control group, suggesting a protective effect against NSOC in Caucasian populations (OR\u2009=\u20090.711, 95% CI\u2009=\u20090.641\u20130.790, for C allele vs. A allele). In conclusion, the meta\u2010analysis provided confirmative evidences that infants' <jats:italic>MTHFR<\/jats:italic> C677T and A1298C polymorphisms were involved in the development of NSOC. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35503","type":"journal-article","created":{"date-parts":[[2012,7,28]],"date-time":"2012-07-28T09:12:12Z","timestamp":1343466732000},"page":"2162-2169","source":"Crossref","is-referenced-by-count":25,"title":["Infants' <i>MTHFR<\/i> polymorphisms and nonsyndromic orofacial clefts susceptibility: A meta\u2010analysis based on 17 case\u2013control studies"],"prefix":"10.1002","volume":"158A","author":[{"given":"Yongchu","family":"Pan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weibing","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junqing","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yifei","family":"Du","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dandan","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qi","family":"Cai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongbing","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meilin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhengdong","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,7,27]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2008.0115"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1590\/S0100-879X2006005000112"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31462"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.38106.559120.7C"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/ejo\/26.1.7"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.031385"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0595-111"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201187"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s003359900838"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10006-001-0361-4"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1089\/dna.2010.1185"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/sim.1186"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0722.2010.00729.x"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/ije\/dyn098"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-0825.2009.01577.x"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0011493"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1597\/06-151.1"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010201)98:4<357::AID-AJMG1108>3.0.CO;2-F"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.14219\/jada.archive.2009.0022"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20491"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(09)60695-4"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.070029"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33624"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-0825.2010.01741.x"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cccn.2003.09.016"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9257"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.242"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981116)80:3<196::AID-AJMG2>3.0.CO;2-V"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35257"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.5.e64"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1673-8527(08)60116-2"},{"key":"e_1_2_6_33_1","first-page":"A27","article-title":"A common mutation in the MTHFR gene is a risk factor for nonsyndromic cleft and palate anomalies","volume":"63","author":"Tolarova MM","year":"1998","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1086\/301825"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1093\/aje\/kwg005"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31684"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1177\/154405910808700202"},{"key":"e_1_2_6_38_1","first-page":"8","article-title":"Relationship between nonsyndromic cleft lip with or without cleft palate (NSCL\/P) and genetic polymorphisms of MTHFR C677T and A1298C","volume":"22","author":"Wan WD","year":"2006","journal-title":"Zhonghua Zheng Xing Wai Ke Za Zhi"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-0825.2009.01588.x"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-0825.2009.01587.x"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.061408298"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1159\/000322486"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35503","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35503","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T06:59:44Z","timestamp":1697612384000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35503"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,7,27]]},"references-count":41,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2012,9]]}},"alternative-id":["10.1002\/ajmg.a.35503"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35503","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,7,27]]}}}