Fan D, Wu S, Liu L, Xia Q, Tian G, Wang W, et al. Prevalence of non-syndromic orofacial clefts: based on 15,094,978 Chinese perinatal infants. Oncotarget. 2018;9:13981–90.

Article  PubMed  PubMed Central  Google Scholar 

Ryu JY, Park TH, Cho BC, Choi KY. The prevalence, risk of premature births, mortality and causes of death of cleft lip with or without palate in South Korea: a nationwide population-based cohort study. Int J Epidemiol. 2022;51:974–83.

Article  PubMed  Google Scholar 

Nasreddine G, El Hajj J, Ghassibe-Sabbagh M. Orofacial clefts embryology, classification, epidemiology, and genetics. Mutat Res Rev Mutat Res. 2021;787:108373.

Article  CAS  PubMed  Google Scholar 

Génin E. Missing heritability of complex diseases: case solved?. Hum Genet. 2020;139:103–13.

Article  PubMed  Google Scholar 

Dixon MJ, Marazita ML, Beaty TH, Murray JC. Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet. 2011;12:167–78.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jia ZL, Shi B, Chen CH, Shi JY, Wu J, Xu X. Maternal malnutrition, environmental exposure during pregnancy and the risk of non-syndromic orofacial clefts. Oral Dis. 2011;17:584–9.

Article  CAS  PubMed  Google Scholar 

Suazo J. Environmental factors in non-syndromic orofacial clefts: A review based on meta-analyses results. Oral Dis. 2022;28:3–8.

Article  PubMed  Google Scholar 

Beaty TH, Ruczinski I, Murray JC, Marazita ML, Munger RG, Hetmanski JB, et al. Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate. Genet Epidemiol. 2011;35:469–78.

PubMed  PubMed Central  Google Scholar 

Carlson JC, Shaffer JR, Deleyiannis F, Hecht JT, Wehby GL, Christensen K, et al. Genome-wide Interaction Study Implicates VGLL2 and Alcohol Exposure and PRL and Smoking in Orofacial Cleft Risk. Front Cell Development Biol. 2022;10:621261.

Article  Google Scholar 

Jianyan L, Zeqiang G, Yongjuan C, Kaihong D, Bing D, Rongsheng L. Analysis of interactions between genetic variants of BMP4 and environmental factors with nonsyndromic cleft lip with or without cleft palate susceptibility. Int J oral Maxillofac Surg. 2010;39:50–56.

Article  CAS  PubMed  Google Scholar 

Sull JW, Liang KY, Hetmanski JB, Wu T, Fallin MD, Ingersoll RG, et al. Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms. Hum Genet. 2009;126:385–94.

Article  PubMed  PubMed Central  Google Scholar 

van Rooij IA, Wegerif MJ, Roelofs HM, Peters WH, Kuijpers-Jagtman AM, Zielhuis GA, et al. Smoking, genetic polymorphisms in biotransformation enzymes, and nonsyndromic oral clefting: a gene-environment interaction. Epidemiology. 2001;12:502–7.

Article  PubMed  Google Scholar 

Zhu H, Kartiko S, Finnell RH. Importance of gene-environment interactions in the etiology of selected birth defects. Clin Genet. 2009;75:409–23.

Article  CAS  PubMed  Google Scholar 

Haaland ØA, Lie RT, Romanowska J, Gjerdevik M, Gjessing HK, Jugessur A. A Genome-Wide Search for Gene-Environment Effects in Isolated Cleft Lip with or without Cleft Palate Triads Points to an Interaction between Maternal Periconceptional Vitamin Use and Variants in ESRRG. Front Genet. 2018;9:60.

Article  PubMed  PubMed Central  Google Scholar 

Wu T, Liang KY, Hetmanski JB, Ruczinski I, Fallin MD, Ingersoll RG, et al. Evidence of gene-environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate. Hum Genet. 2010;128:401–10.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wang S, Shi J, Liu C, Wang P, Wang M, Li W, et al. Evidence of the folate-mediated one-carbon metabolism pathway genes in controlling the non-syndromic oral clefts risks. Oral Diseases. 2021;29:1080–88.

Johansen AM, Lie RT, Wilcox AJ, Andersen LF, Drevon CA. Maternal dietary intake of vitamin A and risk of orofacial clefts: a population-based case-control study in Norway. Am J Epidemiol. 2008;167:1164–70.

Article  PubMed  PubMed Central  Google Scholar 

Khaksary Mahabady M, Najafzadeh Varzi H. Prophylactic effects of levamisole and vitamin E on phenobarbital-induced cleft palate and spina bifida in rat embryos. Iran J Pharm Res : IJPR. 2011;10:135–40.

PubMed  PubMed Central  Google Scholar 

Krapels IP, van Rooij IA, Ocké MC, West CE, van der Horst CM, Steegers-Theunissen RP. Maternal nutritional status and the risk for orofacial cleft offspring in humans. J Nutr. 2004;134:3106–13.

Article  CAS  PubMed  Google Scholar 

Webster WS, Howe AM, Abela D, Oakes DJ. The relationship between cleft lip, maxillary hypoplasia, hypoxia and phenytoin. Curr Pharm Des. 2006;12:1431–48.

Article  CAS  PubMed  Google Scholar 

Zhang J, Zhou S, Zhang Q, Feng S, Chen Y, Zheng H, et al. Proteomic Analysis of RBP4/Vitamin A in children with cleft lip and/or palate. J Dent Res. 2014;93:547–52.

Article  CAS  PubMed  Google Scholar 

Huang L, Jia Z, Shi Y, Du Q, Shi J, Wang Z, et al. Genetic factors define CPO and CLO subtypes of nonsyndromicorofacial cleft. PLoS Genet. 2019;15:e1008357.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sun Y, Huang Y, Yin A, Pan Y, Wang Y, Wang C, et al. Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate. Nat Commun. 2015;6:6414.

Article  PubMed  Google Scholar 

Leslie EJ, Carlson JC, Shaffer JR, Butali A, Buxó CJ, Castilla EE, et al. Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. Hum Genet. 2017;136:275–86.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81:559–75.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sun H, Wang Y, Zhang J, Chen Y, Liu Y, Lin Z, et al. CFTR mutation enhances Dishevelled degradation and results in impairment of Wnt-dependent hematopoiesis. Cell Death Dis. 2018;9:275.

Article  PubMed  PubMed Central  Google Scholar 

Thisse C, Thisse B. High-resolution in situ hybridization to whole-mount zebrafish embryos. Nat Protoc. 2008;3:59–69.

Article  CAS  PubMed  Google Scholar 

Harrison FE, Dawes SM, Meredith ME, Babaev VR, Li L, May JM. Low vitamin C and increased oxidative stress and cell death in mice that lack the sodium-dependent vitamin C transporter SVCT2. Free Radic Biol Med. 2010;49:821–9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Debnath J, Gammoh N, Ryan KM. Autophagy and autophagy-related pathways in cancer. Nat Rev Mol cell Biol. 2023;24:560–75.

Article  CAS  PubMed  Google Scholar 

Beames TG, Lipinski RJ. Gene-environment interactions: aligning birth defects research with complex etiology. Development. 2020;147:dev191064.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chen AA, Marsit CJ, Christensen BC, Houseman EA, McClean MD, Smith JF, et al. Genetic variation in the vitamin C transporter, SLC23A2, modifies the risk of HPV16-associated head and neck cancer. Carcinogenesis. 2009;30:977–81.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Erichsen HC, Engel SA, Eck PK, Welch R, Yeager M, Levine M, et al. Genetic variation in the sodium-dependent vitamin C transporters, SLC23A1, and SLC23A2 and risk for preterm delivery. Am J Epidemiol. 2006;163:245–54.