{"id":"https://openalex.org/W2124158049","doi":"https://doi.org/10.2217/fnl.14.39","title":"Interaction Between Snps In Folate Pathway Genes and Environment Increase Neural Tube Defects Risk","display_name":"Interaction Between Snps In Folate Pathway Genes and Environment Increase Neural Tube Defects Risk","publication_year":2014,"publication_date":"2014-07-31","ids":{"openalex":"https://openalex.org/W2124158049","doi":"https://doi.org/10.2217/fnl.14.39","mag":"2124158049"},"language":"en","primary_location":{"id":"doi:10.2217/fnl.14.39","doi":"https://doi.org/10.2217/fnl.14.39","is_oa":false,"landing_page_url":"https://doi.org/10.2217/fnl.14.39","pdf_url":null,"source":{"id":"https://openalex.org/S99603113","display_name":"Future Neurology","issn_l":"1479-6708","issn":["1479-6708","1748-6971"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1","poland-40","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310321119","host_organization_name":"Future Medicine","host_organization_lineage":["https://openalex.org/P4310321119"],"host_organization_lineage_names":["Future Medicine"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Future Neurology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5024860920","display_name":"Yunping Lei","orcid":"https://orcid.org/0000-0003-1504-0884","observed_orcids":["https://orcid.org/0000-0003-1504-0884"]},"institutions":[{"id":"https://openalex.org/I86519309","display_name":"The University of Texas at Austin","ror":"https://ror.org/00hj54h04","country_code":"US","type":"education","lineage":["https://openalex.org/I86519309"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Yunping Lei","raw_affiliation_strings":["Dell Pediatric Research Institute, Department of Nutritional Sciences, School of Human Ecology, The University of Texas at Austin, TX, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dell Pediatric Research Institute, Department of Nutritional Sciences, School of Human Ecology, The University of Texas at Austin, TX, USA","institution_ids":["https://openalex.org/I86519309"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036931336","display_name":"Rachel K. Tittle","orcid":"https://orcid.org/0000-0003-2309-8111","observed_orcids":["https://orcid.org/0000-0003-2309-8111"]},"institutions":[{"id":"https://openalex.org/I86519309","display_name":"The University of Texas at Austin","ror":"https://ror.org/00hj54h04","country_code":"US","type":"education","lineage":["https://openalex.org/I86519309"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Rachel K Tittle","raw_affiliation_strings":["Dell Pediatric Research Institute, Department of Nutritional Sciences, School of Human Ecology, The University of Texas at Austin, TX, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dell Pediatric Research Institute, Department of Nutritional Sciences, School of Human Ecology, The University of Texas at Austin, TX, USA","institution_ids":["https://openalex.org/I86519309"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5075319792","display_name":"Richard H. Finnell","orcid":"https://orcid.org/0000-0002-5962-8754","observed_orcids":["https://orcid.org/0000-0002-5962-8754"]},"institutions":[{"id":"https://openalex.org/I86519309","display_name":"The University of Texas at Austin","ror":"https://ror.org/00hj54h04","country_code":"US","type":"education","lineage":["https://openalex.org/I86519309"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Richard H Finnell","raw_affiliation_strings":["Dell Pediatric Research Institute, Department of Nutritional Sciences, School of Human Ecology, The University of Texas at Austin, TX, USA","Department of Chemistry\u00a0& Biochemistry, The University of Texas at Austin, Austin, TX, USA","Pediatrics"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dell Pediatric Research Institute, Department of Nutritional Sciences, School of Human Ecology, The University of Texas at Austin, TX, USA","institution_ids":["https://openalex.org/I86519309"]},{"raw_affiliation_string":"Department of Chemistry\u00a0& Biochemistry, The University of Texas at Austin, Austin, TX, USA","institution_ids":["https://openalex.org/I86519309"]},{"raw_affiliation_string":"Pediatrics","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I86519309"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.1956778,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"9","issue":"4","first_page":"397","last_page":"400"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10499","display_name":"Folate and B Vitamins Research","score":0.9907000064849854,"subfield":{"id":"https://openalex.org/subfields/2916","display_name":"Nutrition and Dietetics"},"field":{"id":"https://openalex.org/fields/29","display_name":"Nursing"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10499","display_name":"Folate and B Vitamins Research","score":0.9907000064849854,"subfield":{"id":"https://openalex.org/subfields/2916","display_name":"Nutrition and Dietetics"},"field":{"id":"https://openalex.org/fields/29","display_name":"Nursing"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11833","display_name":"Spinal Dysraphism and Malformations","score":0.005799999926239252,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12229","display_name":"Pharmacological Effects and Toxicity Studies","score":0.0006000000284984708,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/neural-tube-defects","display_name":"neural tube defects","score":0.9990000128746033},{"id":"https://openalex.org/keywords/folate-pathway-genes","display_name":"folate pathway genes","score":0.9729999899864197},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.996999979019165},{"id":"https://openalex.org/keywords/gene-environment-interaction","display_name":"gene-environment interaction","score":0.9580000042915344},{"id":"https://openalex.org/keywords/mthfr-677-c-t","display_name":"MTHFR 677 C>T","score":0.9350000023841858},{"id":"https://openalex.org/keywords/folic-acid-supplementation","display_name":"folic acid supplementation","score":0.9350000023841858},{"id":"https://openalex.org/keywords/gestational-diabetes-mellitus","display_name":"gestational diabetes mellitus","score":0.9990000128746033},{"id":"https://openalex.org/keywords/prenatal-medication-exposure","display_name":"prenatal medication exposure","score":0.5920000076293945},{"id":"https://openalex.org/keywords/transmission-disequilibrium-test","display_name":"transmission disequilibrium test","score":0.7680000066757202},{"id":"https://openalex.org/keywords/chinese-family","display_name":"Chinese family","score":0.621999979019165}],"concepts":[{"id":"https://openalex.org/C2780594696","wikidata":"https://www.wikidata.org/wiki/Q1127402","display_name":"Neural tube","level":3,"score":0.8169306516647339},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.7885310053825378},{"id":"https://openalex.org/C43563269","wikidata":"https://www.wikidata.org/wiki/Q424709","display_name":"Methylenetetrahydrofolate reductase","level":4,"score":0.770041823387146},{"id":"https://openalex.org/C137627325","wikidata":"https://www.wikidata.org/wiki/Q156318","display_name":"Etiology","level":2,"score":0.575570285320282},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.5264925360679626},{"id":"https://openalex.org/C146304588","wikidata":"https://www.wikidata.org/wiki/Q961652","display_name":"Case-control study","level":2,"score":0.5070915222167969},{"id":"https://openalex.org/C2777003008","wikidata":"https://www.wikidata.org/wiki/Q548213","display_name":"Neural tube defect","level":4,"score":0.47411778569221497},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.45535045862197876},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.44240689277648926},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.43621203303337097},{"id":"https://openalex.org/C35605836","wikidata":"https://www.wikidata.org/wiki/Q2064311","display_name":"Linkage disequilibrium","level":5,"score":0.43583211302757263},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4107004404067993},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4059286117553711},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3952718675136566},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.34980884194374084},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3281845152378082},{"id":"https://openalex.org/C196843134","wikidata":"https://www.wikidata.org/wiki/Q33196","display_name":"Embryo","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.2217/fnl.14.39","doi":"https://doi.org/10.2217/fnl.14.39","is_oa":false,"landing_page_url":"https://doi.org/10.2217/fnl.14.39","pdf_url":null,"source":{"id":"https://openalex.org/S99603113","display_name":"Future Neurology","issn_l":"1479-6708","issn":["1479-6708","1748-6971"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1","poland-40","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310321119","host_organization_name":"Future Medicine","host_organization_lineage":["https://openalex.org/P4310321119"],"host_organization_lineage_names":["Future Medicine"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Future Neurology","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9907000064849854,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G308446030","display_name":"Genetic Regulation of Valproic Acid Teratogenicity","funder_award_id":"R21HD072251","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":23,"referenced_works":["https://openalex.org/W1597619535","https://openalex.org/W1922615383","https://openalex.org/W1951862796","https://openalex.org/W1997427906","https://openalex.org/W2022463492","https://openalex.org/W2030780379","https://openalex.org/W2035028103","https://openalex.org/W2048151432","https://openalex.org/W2051211149","https://openalex.org/W2057129148","https://openalex.org/W2058988860","https://openalex.org/W2096177579","https://openalex.org/W2096350211","https://openalex.org/W2103953947","https://openalex.org/W2106352068","https://openalex.org/W2107931179","https://openalex.org/W2113827149","https://openalex.org/W2126841894","https://openalex.org/W2144062723","https://openalex.org/W2147381271","https://openalex.org/W2152099406","https://openalex.org/W2153648772","https://openalex.org/W4237533794"],"related_works":["https://openalex.org/W2022463492","https://openalex.org/W2588741308","https://openalex.org/W2028767039","https://openalex.org/W4297982814","https://openalex.org/W1982191762","https://openalex.org/W3032855885","https://openalex.org/W2791412588","https://openalex.org/W1984663935","https://openalex.org/W2471529308","https://openalex.org/W2097967337"],"abstract_inverted_index":{"Evaluation":[0],"of:":[1],"Liu":[2],"J,":[3,5],"Qi":[4],"Yu":[6],"X":[7],"et":[8],"al.":[9],"Investigations":[10],"of":[11,51,60,78,131,154,162],"single":[12],"nucleotide":[13],"polymorphisms":[14],"in":[15,19,39,81,137,151],"folate":[16,40,83,91,124,156],"pathway":[17,42,84],"genes":[18,43,85],"Chinese":[20],"families":[21],"with":[22,122,144],"neural":[23,52],"tube":[24,53],"defects.":[25],"J.":[26],"Neurol.":[27],"Sci.":[28],"337,":[29],"61\u201366":[30],"(2014).":[31],"This":[32],"study":[33],"investigated":[34],"the":[35,49,129,138,152,160],"interactions":[36],"between":[37],"SNPs":[38,80],"metabolism":[41],"and":[44,97,101,106,126],"environmental":[45],"risk":[46],"factors":[47,89],"on":[48],"etiology":[50,161],"defects":[54],"(NTDs).":[55],"Samples":[56],"from":[57,66],"a":[58],"total":[59,77],"609":[61],"NTD":[62],"cases":[63],"were":[64,72,86,110],"collected":[65,73],"602":[67],"families,":[68],"1106":[69],"parental":[70],"samples":[71],"as":[74,135],"controls.":[75],"A":[76],"28":[79],"12":[82],"genotyped.":[87],"Environmental":[88],"included":[90],"supplementation,":[92,157],"gestational":[93],"diabetes":[94],"mellitus":[95],"(GDM)":[96],"medicine":[98],"administration":[99],"before":[100],"during":[102],"pregnancy.":[103],"Case\u2013parental":[104],"control":[105],"transmission/disequilibrium":[107],"tests":[108],"(TDTs)":[109],"conducted":[111],"according":[112],"to":[113,159],"environment":[114],"cofactor":[115],"stratification.":[116],"The":[117],"MTHFR":[118],"677C>T":[119],"genotype":[120],"interacts":[121,143],"low":[123],"level":[125],"GDM,":[127,145],"increasing":[128],"occurrence":[130],"NTDs.":[132,163],"MTR":[133],"(known":[134],"MTHM":[136],"paper":[139],"under":[140],"evaluation)":[141],"501A>G":[142],"promoting":[146],"NTDs":[147],"risk.":[148],"BHMT":[149],"716G>A,":[150],"case":[153],"no":[155],"contributed":[158]},"counts_by_year":[],"updated_date":"2026-10-29T09:56:32.521200","created_date":"2016-06-24T00:00:00"}