98
Views
0
CrossRef citations to date
0
Altmetric
Short Communication

Nonsyndromic Orofacial Clefts in Chile: LINE-1 Methylation and MTHFR Variants

, , ORCID Icon, , , , , , & ORCID Icon show all
Pages 1783-1791 | Received 13 Jan 2020, Accepted 11 Sep 2020, Published online: 04 Nov 2020

References

  • Mossey P . Epidemiology underpinning research in the aetiology of orofacial clefts. Orthod. Craniofac. Res.10(3), 114–120 (2007).
  • Nazer HJ , CifuentesOL. Prevalence of congenital malformations at birth in Chilean Maternity Hospitals. Rev. Med. Chil.142(9), 1150–1156 (2014).
  • Bhaskar LV , MurthyJ , Venkatesh BabuG. Polymorphisms in genes involved in folate metabolism and orofacial clefts. Arch. Oral Biol.56(8), 723–737 (2011).
  • Jayarajan R , NatarajanA , NagamuttuR. Efficacy of periconceptional high-dose folic acid in isolated orofacial cleft prevention: a systematic review. Indian J. Plast. Surg.52(2), 153–159 (2019).
  • Millacura N , PardoR , CifuentesL , SuazoJ. Effects of folic acid fortification on orofacial clefts prevalence: a meta-analysis. Public Health Nutr.20(12), 2260–2268 (2017).
  • Jahanbin A , ShadkamE , MiriHH , ShiraziAS , AbtahiM. Maternal folic acid supplementation and the risk of oral clefts in offspring. J. Craniofac. Surg.29(6), e534–e541 (2018).
  • Blanton SH , HenryRR , YuanQet al. Folate pathway and nonsyndromic cleft lip and palate. Birth Defects Res. A Clin. Mol. Teratol.91(1), 50–60 (2011).
  • Wang P , WuT , SchwenderHet al. Evidence of interaction between genes in the folate/homocysteine metabolic pathway in controlling risk of non-syndromic oral cleft. Oral Dis.24(5), 820–828 (2018).
  • Ramírez-Chau C , BlancoR , ColomboA , PardoR , SuazoJ. MTHFR c.677C >T is a risk factor for non-syndromic cleft lip with or without cleft palate in Chile. Oral Dis.22(7), 703–708 (2016).
  • Salamanca C , González-HormazábalP , RecabarrenASet al. A SHMT1 variant decreases the risk of nonsyndromic cleft lip with or without cleft palate in Chile. Oral Dis.26(1), 159–165 (2020).
  • Crider KS , YangTP , BerryRJ , BaileyLB. Folate and DNA methylation: a review of molecular mechanisms and the evidence for folate’s role. Adv. Nutr.3(1), 21–38 (2012).
  • Desai A , SequeiraJM , QuadrosEV. The metabolic basis for developmental disorders due to defective folate transport. Biochimie126, 31–42 (2016).
  • Heard E , MartienssenRA. Transgenerational epigenetic inheritance: myths and mechanisms. Cell157(1), 95–109 (2014).
  • Li Y , DengY , DengCet al. Association of long interspersed nucleotide element-1 and interferon regulatory factor 6 methylation changes with nonsyndromic cleft lip with or without cleft palate. Oral Dis.25(1), 215–222 (2019).
  • Khan MFJ , LittleJ , MosseyPAet al. Evaluating LINE-1 methylation in cleft lip tissues and its association with early pregnancy exposures. Epigenomics10(1), 105–113 (2018).
  • Khan MFJ , LittleJ , AleottiVet al. LINE-1 methylation in cleft lip tissues: influence of infant MTHFR c.677C >T genotype. Oral Dis.25(6), 1668–1671 (2019).
  • Matthews RG , SheppardC , GouldingC. Methylenetetrahydrofolate reductase and methionine synthase: biochemistry and molecular biology. Eur. J. Pediatr.157(Suppl. 2), S54–S59 (1998).
  • Frosst P , BlomHJ , MilosRet al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat. Genet.10(1), 111–113 (1995).
  • van der Put NM , GabreëlsF , StevensEMet al. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects? Am. J. Hum. Genet. 62(5), 1044–1051 (1998).
  • Castro R , RiveraI , RavascoPet al. 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C-->T and 1298A-->C mutations are associated with DNA hypomethylation. J. Med. Genet.41(6), 454–458 (2004).
  • Friso S , GirelliD , TrabettiEet al. The MTHFR 1298A >C polymorphism and genomic DNA methylation in human lymphocytes. Cancer Epidemiol. Biomarkers Prev.14(4), 938–943 (2005).
  • OECD . OECD guidelines on human biobanks and genetic research databases. Organization for Economic Cooperation and Development, Paris, France (2009).
  • Common Minimum Technical Standards and Protocols for Biobanks Dedicated to Cancer Research. IARC Technical Publication, Lyon, France (2017). No. 44.
  • Krause BJ , Carrasco-WongI , CaniuguirA , CarvajalJ , FaríasM , CasanelloP. Endothelial eNOS/arginase imbalance contributes to vascular dysfunction in IUGR umbilical and placental vessels. Placenta34(1), 20–28 (2013).
  • Benitez-Trinidad AB , Medina-DíazIM , Bernal-HernándezYYet al. Relationship between LINE-1 methylation pattern and pesticide exposure in urban sprayers. Food Chem. Toxicol.113, 125–133 (2018).
  • Tsuboi Y , YamadaH , MunetsunaEet al. Relationship between long interspersed nuclear element-1 DNA methylation in leukocytes and dyslipidemia in the Japanese general population. J. Atheroscler. Thromb.25(12), 1231–1239 (2018).
  • Hong JH , JinEH , KimS , SongKS , SungJK. LINE-1 hypomethylation is inversely correlated with UHRF1 overexpression in gastric cancer. Oncol. Lett.15(5), 6666–6670 (2018).
  • Tajuddin SM , AmaralAF , FernándezAFet al. LINE-1 methylation in leukocyte DNA, interaction with phosphatidylethanolamine N-methyltransferase variants and bladder cancer risk. Br. J. Cancer110(8), 2123–2130 (2014).
  • Slatkin M . Epigenetic inheritance and the missing heritability problem. Genetics182(3), 845–850 (2009).
  • Hsiung DT , MarsitCJ , HousemanEAet al. Global DNA methylation level in whole blood as a biomarker in head and neck squamous cell carcinoma. Cancer Epidemiol. Biomarkers Prev.16(1), 108–114 (2007).
  • Wang L , ChangS , GuanJet al. Tissue-specific methylation of long interspersed nucleotide element-1 of Homo sapiens (L1Hs) during human embryogenesis and roles in neural tube defects. Curr. Mol. Med.15(5), 497–507 (2015).
  • Perng W , Mora-PlazasM , MarínC , RozekLS , BaylinA , VillamorE. A prospective study of LINE-1DNA methylation and development of adiposity in school-age children. PLoS ONE8(4), e62587 (2013).
  • Jones PA . Functions of DNA methylation: islands, start sites, gene bodies and beyond. Nat. Rev. Genet.13(7), 484–492 (2012).
  • Jansen RJ , TongL , ArgosMet al. The effect of age on DNA methylation in whole blood among Bangladeshi men and women. BMC Genomics20(1), 704 (2019).
  • Li X , ShaoM , WangSet al. Heterozygote advantage of methylenetetrahydrofolate reductase polymorphisms on clinical outcomes in advanced non-small-cell lung cancer (NSCLC) patients treated with platinum-based chemotherapy. Tumour Biol.35(11), 11159–11170 (2014).
  • Sharp GC , HoK , DaviesAet al. Distinct DNA methylation profiles in subtypes of orofacial cleft. Clin. Epigenetics9, 63 (2017).

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.