Maternal and Parent-of-Origin Gene–Environment Effects on the Etiology of Orofacial Clefting
Abstract
:1. Background
2. Materials and Methods
2.1. Study Sample and Data Collection
2.2. Statistical Analysis
3. Results
4. Discussion
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
Abbreviations
OFC | Orofacial cleft |
CL/P | Cleft lip with or without cleft palate |
CPO | Cleft palate only |
SNP | Single-nucleotide polymorphism |
PoO | Parent of origin |
References
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Number of Triads/Dyads (%) 1 | |||
---|---|---|---|
All (n = 444) | Cleft Lip with or Without Palate (n = 317) | Cleft Palate Only (n = 125) | |
Maternal periconceptual exposure | |||
Smoking | 99 (22.3) | 73 (23.0) | 26 (20.8) |
Supplements containing folic acid | 218 (49.1) | 152 (47.9) | 66 (52.8) |
Child sex | |||
Male | 272 (61.3) | 213 (67.2) | 57 (45.6) |
Female | 172 (38.7) | 104 (32.8) | 68 (54.4) |
Country of origin | |||
Italy | 233 (52.5) | 182 (57.4) | 49 (39.2) |
UK | 33 (7.4) | 18 (5.7) | 15 (12.0) |
Spain | 8 (1.8) | 8 (2.5) | 0 (0) |
Hungary | 84 (18.9) | 56 (17.7) | 28 (22.4) |
Bulgaria | 31 (7.0) | 25 (7.9) | 6 (4.8) |
Estonia | 24 (5.4) | 10 (3.2) | 14 (11.2) |
Slovakia | 31 (7.0) | 18 (5.7) | 13 (10.4) |
SNP | Chromosome (chr) | Minor/Other Allele (Minor Allele Frequency) | Gene | p-value 1 | Pooled Region p-Value 2 | Relative Risk or Relative Risk Ratio 3 (No Environment/Environment) |
---|---|---|---|---|---|---|
Maternal—Folic acid supplementation | ||||||
rs12729671 | chr1 69.7Mb | C/T (0.22) | LRRC7 | 0.0029 | 0.020 | 1.48 [1.07, 2.08]/0.73 [0.52, 1.02] |
Parent of origin—Smoking | ||||||
rs1437897 | chr2 133Mb | A/G (0.26) | NCKAP5 | 0.0033 | 0.041 | 0.60 [0.33, 1.07]/3.97 [1.27, 12.03] |
Parent of origin—Folic acid supplementation | ||||||
rs139115930 | chr14 76.1Mb | C/T (0.15) | Intergenic | 0.00056 | 0.0058 | 2.89 [1.22, 7.01]/0.29 [0.11, 0.75] |
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Rasevic, N.; Bastasic, J.; Rubini, M.; Rakesh, M.R.; Burkett, K.M.; Ray, D.; Mossey, P.A.; Peterlin, B.; Khan, M.F.J.; Ravaei, A.; et al. Maternal and Parent-of-Origin Gene–Environment Effects on the Etiology of Orofacial Clefting. Genes 2025, 16, 195. https://doi.org/10.3390/genes16020195
Rasevic N, Bastasic J, Rubini M, Rakesh MR, Burkett KM, Ray D, Mossey PA, Peterlin B, Khan MFJ, Ravaei A, et al. Maternal and Parent-of-Origin Gene–Environment Effects on the Etiology of Orofacial Clefting. Genes. 2025; 16(2):195. https://doi.org/10.3390/genes16020195
Chicago/Turabian StyleRasevic, Nikola, Joseph Bastasic, Michele Rubini, Mohan R. Rakesh, Kelly M. Burkett, Debashree Ray, Peter A. Mossey, Borut Peterlin, Mohammad Faisal J. Khan, Amin Ravaei, and et al. 2025. "Maternal and Parent-of-Origin Gene–Environment Effects on the Etiology of Orofacial Clefting" Genes 16, no. 2: 195. https://doi.org/10.3390/genes16020195
APA StyleRasevic, N., Bastasic, J., Rubini, M., Rakesh, M. R., Burkett, K. M., Ray, D., Mossey, P. A., Peterlin, B., Khan, M. F. J., Ravaei, A., Autelitano, L., Meazzini, M. C., Little, J., & Roy-Gagnon, M.-H. (2025). Maternal and Parent-of-Origin Gene–Environment Effects on the Etiology of Orofacial Clefting. Genes, 16(2), 195. https://doi.org/10.3390/genes16020195