{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T06:38:32Z","timestamp":1777444712390,"version":"3.51.4"},"reference-count":79,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,3,25]],"date-time":"2024-03-25T00:00:00Z","timestamp":1711324800000},"content-version":"vor","delay-in-days":24,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"publisher","award":["T32 MH112510"],"award-info":[{"award-number":["T32 MH112510"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Human studies of genetic risk factors for neural tube defects, severe birth defects associated with long\u2010term health consequences in surviving children, have predominantly been restricted to a subset of candidate genes in specific biological pathways including folate metabolism.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this study, we investigated the association of genetic variants spanning the genome with risk of spina bifida (i.e., myelomeningocele and meningocele) in a subset of families enrolled from December 2016 through December 2022 in a case\u2013control study in Bangladesh, a population often underrepresented in genetic studies. Saliva DNA samples were analyzed using the Illumina Global Screening Array. We performed genetic association analyses to compare allele frequencies between 112 case and 121 control children, 272 mothers, and 128 trios.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In the transmission disequilibrium test analyses with trios only, we identified three novel exonic spina bifida risk loci, including rs140199800 (<jats:italic>SULT1C2<\/jats:italic>, <jats:italic>p<\/jats:italic>\u2009=\u20091.9\u2009\u00d7\u200910<jats:sup>\u22127<\/jats:sup>), rs45580033 (<jats:italic>ASB2<\/jats:italic>, <jats:italic>p<\/jats:italic>\u2009=\u20094.2\u2009\u00d7\u200910<jats:sup>\u221210<\/jats:sup>), and rs75426652 (<jats:italic>LHPP<\/jats:italic>, <jats:italic>p<\/jats:italic>\u2009=\u20097.2\u2009\u00d7\u200910<jats:sup>\u221214<\/jats:sup>), after adjusting for multiple hypothesis testing. Association analyses comparing cases and controls, as well as models that included their mothers, did not identify genome\u2010wide significant variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study identified three novel single nucleotide polymorphisms involved in biological pathways not previously associated with neural tube defects. The study warrants replication in larger groups to validate findings and to inform targeted prevention strategies.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.2331","type":"journal-article","created":{"date-parts":[[2024,3,25]],"date-time":"2024-03-25T13:35:27Z","timestamp":1711373727000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Genome\u2010wide analysis of spina bifida risk variants in a case\u2013control study from Bangladesh"],"prefix":"10.1002","volume":"116","author":[{"given":"Gwen","family":"Tindula","sequence":"first","affiliation":[{"name":"Department of Neurology Boston Children's Hospital  Boston Massachusetts USA"},{"name":"Department of Neurology Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Biju","family":"Issac","sequence":"additional","affiliation":[{"name":"Research Computing, Information Technology Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sudipta Kumer","family":"Mukherjee","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurosurgery National Institute of Neurosciences and Hospital (NINS)  Dhaka Bangladesh"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheikh Muhammad","family":"Ekramullah","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurosurgery National Institute of Neurosciences and Hospital (NINS)  Dhaka Bangladesh"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. M.","family":"Arman","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurosurgery National Institute of Neurosciences and Hospital (NINS)  Dhaka Bangladesh"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joynul","family":"Islam","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosurgery National Institute of Neurosciences and Hospital (NINS)  Dhaka Bangladesh"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hafiza Sultana","family":"Suchanda","sequence":"additional","affiliation":[{"name":"Pediatric Neurosurgery Research Committee National Institute of Neurosciences and Hospital (NINS)  Dhaka Bangladesh"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liang","family":"Sun","sequence":"additional","affiliation":[{"name":"Research Computing, Information Technology Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shira","family":"Rockowitz","sequence":"additional","affiliation":[{"name":"Research Computing, Information Technology Boston Children's Hospital  Boston Massachusetts USA"},{"name":"Division of Genetics and Genomics Boston Children's Hospital  Boston Massachusetts USA"},{"name":"The Manton Center for Orphan Disease Research Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David C.","family":"Christiani","sequence":"additional","affiliation":[{"name":"Department of Environmental Health Harvard T.H. 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