{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,30]],"date-time":"2025-12-30T22:58:13Z","timestamp":1767135493063,"version":"build-2238731810"},"reference-count":15,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2017,8,1]],"date-time":"2017-08-01T00:00:00Z","timestamp":1501545600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001411","name":"the Indian Council of Medical Research (ICMR)","doi-asserted-by":"crossref","award":["45\/7\/2014-HUM-BMS"],"award-info":[{"award-number":["45\/7\/2014-HUM-BMS"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2017,8]]},"abstract":"\n Background<\/jats:title>\n \n Neural tube defects (NTDs) are caused by the failure of neural tube formation which occurs during early embryonic development. NTDs are the most severe and leading cause of fetal mortality. Serine hydroxymethyl transferase (\n SHMT1<\/jats:italic>\n ) provides one\u2010carbon units necessary for embryogenesis and defects in one\u2010carbon production result in specific pathological conditions during pregnancy. The present study is aimed to evaluate the association of\n SHMT1<\/jats:italic>\n C1420T with NTD risk in the fetus using fetal, maternal and paternal groups by applying both case\u2013control and family\u2010based triad approaches.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n A total of 924 subjects including 124 NTD case\u2013parent trios (\n n<\/jats:italic>\n = 124 \u00d7 3 = 372) and 184 healthy control\u2013parent trios (\n n<\/jats:italic>\n = 184 \u00d7 3 = 552) from Telangana State, South India were analyzed. DNA from umbilical cord tissues and parental blood samples were extracted, and genotyped by polymerase chain reaction\u2013restriction fragment length polymorphism. Statistical analysis used were SPSS, parent\u2010of\u2010origin effect (POE) analysis.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Case\u2010control study design demonstrated fetuses with homozygous variant genotype (TT) to be at risk toward spina bifida subtype (\n p<\/jats:italic>\n = 0.022). Among parents, fathers with TT genotype were associated with anencephaly (\n p<\/jats:italic>\n = 0.018) and spina bifida subtypes (\n p<\/jats:italic>\n = 0.027) in the offspring. Of interest, maternal\u2013paternal\u2013offspring genotype incompatibility revealed maternal CT genotype in combination with paternal TT genotype increased risk for NTDs in the fetus (CTxTT = TT;\n p<\/jats:italic>\n = 0.021). Family\u2010based parent\u2010of\u2010origin effect linkage analysis revealed significant maternal over\u2010transmission of variant allele to NTD fetuses (\n p<\/jats:italic>\n < 0.01).\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n The present study, using both case\u2013control and family\u2010based triad approach is the first report to demonstrate parental association of\n SHMT1<\/jats:italic>\n C1420T variant in conferring NTD risk in the fetus. Birth Defects Research 109:1020\u20131029, 2017. \u00a9 2017 Wiley Periodicals, Inc.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/bdr2.23623","type":"journal-article","created":{"date-parts":[[2017,8,1]],"date-time":"2017-08-01T05:50:39Z","timestamp":1501566639000},"page":"1020-1029","source":"Crossref","is-referenced-by-count":12,"title":["Interaction between Maternal and Paternal\n SHMT1<\/i>\n C1420T Predisposes to Neural Tube Defects in the Fetus: Evidence from Case\u2013Control and Family\u2010Based Triad Approaches"],"prefix":"10.1002","volume":"109","author":[{"given":"Prasoona","family":"K. Rebekah","sequence":"first","affiliation":[{"name":"Institute of Genetics and Hospital for Genetic Diseases Osmania University Hyderabad Telangana State India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sunitha","family":"Tella","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Hospital for Genetic Diseases Osmania University Hyderabad Telangana State India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Srinadh","family":"Buragadda","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Hospital for Genetic Diseases Osmania University Hyderabad Telangana State India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muni Kumari","family":"Tiruvatturu","sequence":"additional","affiliation":[{"name":"Modern Government Maternity Hospital Hyderabad Telangana India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jyothy","family":"Akka","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Hospital for Genetic Diseases Osmania University Hyderabad Telangana State India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,8]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0005839"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20511"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/biof.170"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35552"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20841"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2001.3175"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M205000200"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.4162\/nrp.2011.5.2.112"},{"key":"e_1_2_6_10_1","first-page":"1020","article-title":"Effect of paternal folate deficiency on brain development in postnatal rat pups","volume":"26","author":"Kim HW","year":"2012","journal-title":"FASEB J"},{"key":"e_1_2_6_11_1","first-page":"14679","article-title":"Prevalence of methylenetetrahydrofolate reductase (MTHFR) and cytosolic serine hydroxymethyltransferase (cSHMT) genes polymorphisms in healthy Malaysian population","volume":"11","author":"Ismil FI","year":"2012","journal-title":"Afr J Biotechnol"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12929"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0711541105"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.010694"},{"key":"e_1_2_6_15_1","first-page":"506","article-title":"Transmission test for linkage disequilibrium: the insulin gene region and insulin dependent diabetes mellitus (IDDM)","volume":"52","author":"Spielman RS","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M702526200"}],"container-title":["Birth Defects Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fbdr2.23623","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdr2.23623","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T23:34:41Z","timestamp":1696548881000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bdr2.23623"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8]]},"references-count":15,"aliases":["10.1002\/bdra.23623"],"journal-issue":{"issue":"13","published-print":{"date-parts":[[2017,8]]}},"alternative-id":["10.1002\/bdr2.23623"],"URL":"https:\/\/doi.org\/10.1002\/bdr2.23623","archive":["Portico"],"relation":{},"ISSN":["2472-1727","2472-1727"],"issn-type":[{"value":"2472-1727","type":"print"},{"value":"2472-1727","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8]]}}}