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Review

Association of Fetal MTHFR 677C > T Polymorphism with Non-Syndromic Cleft Lip with or without Palate Risk: A Systematic Review and Meta-Analysis

, , , , , , & show all
Pages 337-353 | Received 04 Nov 2019, Accepted 19 Nov 2019, Published online: 27 Dec 2019

References

  • Leslie EJ, Marazita ML. Genetics of cleft lip and cleft palate. Am J Med Genet. 2013;163:246–258. doi:10.1002/ajmg.c.31381.
  • Niktabar SM, Amooee A, Piroozmand P, Farahnak S, Foroughi E, Nasiri R, et al. Association between IRF6 rs642961 polymorphism and nonsyndromic cleft lip with or without cleft palate risk in an Iranian population. World J Peri Neonatol. 2018;1:30–35.
  • Tolarova MM. Global health issues related to cleft lip and palate: prevention and treatment need to team together. Indian J Dent Res. 2016;27:455–456. doi:10.4103/0970-9290.195607.
  • Burg ML, Chai Y, Yao CA, Magee W, Figueiredo JC, Figueiredo JC. Epidemiology, etiology, and treatment of isolated cleft palate. Front Physiol. 2016;7:67. doi:10.3389/fphys.2016.00067.
  • Brandalize APC, Bandinelli E, Borba JB, Félix TM, Roisenberg I, Schüler-Faccini L. Polymorphisms in genes MTHFR, MTR and MTRR are not risk factors for cleft lip/palate in South Brazil. Braz J Med Biol Res. 2007;40:787–791. doi:10.1590/S0100-879X2006005000112.
  • Gohari M, Dastgheib AS, Jafari-Nedooshan J, Akbarian-Bafghi JM, Morovati-Sharifabad M, Mirjalili RS, et al. Association of MTHFR 677C > T, 1298A > C and MTR 2756A > G polymorphisms with risk of retinoblastoma. Klin Onkol. 2019;32:375–379. doi:10.14735/amko2019375.
  • Kamali M, Hantoushzadeh S, Borna S, Neamatzadeh H, Mazaheri M, Noori-Shadkam M, Haghighi F. Association between thrombophilic genes polymorphisms and recurrent pregnancy loss susceptibility in the Iranian population: a systematic review and meta-analysis. Iran Biomed J. 2018;22:78–89. doi:10.22034/ibj.22.2.78.
  • Azarpira MR, Ghilian MM, Sobhan MR, Mehdinezhad-Yazdi M, Aghili K, Miresmaeili SM, Neamatzadeh H. Association of MTHFR and TNF-α genes polymorphisms with susceptibility to Legg-Calve-Perthes disease in Iranian children: a case-control study. J Orthop. 2018;15:984–987. doi:10.1016/j.jor.2018.08.042.
  • Abedinzadeh M, Zare-Shehneh M, Neamatzadeh H, Abedinzadeh M, Karami H. Association between MTHFR C677T polymorphism and risk of prostate cancer: evidence from 22 studies with 10,832 cases and 11,993 controls. Asian Pac J Cancer Prev. 2015;16:4525–4530. doi:10.7314/APJCP.2015.16.11.4525.
  • Ay A, Alkanli N, Sipahi T, Gulyasar T, Ustundag S, Guldiken S, Sut N. Investigation of the relationship between MTHFR, IRS and CALCA gene polymorphisms and development of diabetic nephropathy in patients with type 2 diabetes mellitus. Biotechnol Biotechnol Equip. 2018;32:1257–1265. doi:10.1080/13102818.2018.1485514.
  • Sadeghiyeh T, Dastgheib SA, Lookzadeh MH, Noori-Shadkam M, Akbarian-Bafghi MJ, Zare-Shehneh M, Poursharif Z, Neamatzadeh H. Association of MTHFR 677C > T and 1298A > C polymorphisms with susceptibility to attention deficit and hyperactivity disorder. Fetal Pediatr Pathol. 2019;1–17. doi:10.1080/15513815.2019.1683918. [Epub ahead of print].
  • Nefic H, Mackic-Djurovic M, Eminovic I. The frequency of the 677C > T and 1298A > C polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene in the population. Med Arch.). 2018;72:164–169. doi:10.5455/medarh.2018.72.164-169.
  • Bezerra JF, Oliveira GHM, Soares CD, Cardoso ML, Ururahy MAG, Neto FPF, Lima-Neto LG, Luchessi AD, Silbiger VN, Fajardo CM, et al. Genetic and non-genetic factors that increase the risk of non-syndromic cleft lip and/or palate development. Oral Dis. 2015;21:393–399. doi:10.1111/odi.12292.
  • Rai V. Strong association of C677T polymorphism of methylenetetrahydrofolate reductase gene with nosyndromic cleft lip/palate (NSCL/P). Ind J Clin Biochem. 2018;33:5–15. doi:10.1007/s12291-017-0673-2.
  • Rafik A, Rachad L, Kone A-S, Nadifi S. MTHFR C677T polymorphism and risk of nonsyndromic cleft lip with or without cleft palate in the Moroccan population. Appl Clin Genet. 2019;12:51–54. doi:10.2147/TACG.S194166.
  • Little J, Gilmour M, Mossey PA, FitzPatrick D, Cardy A, Clayton-Smith J, Hill A, Duthie SJ, Fryer AE, Molloy AM, et al. Folate and clefts of the lip and palate—A U.K.-based case-control study: part II: biochemical and genetic analysis. Cleft Palate-Craniofacial J. 2008;45:428–438. doi:10.1597/06-151.1.
  • Murthy J, Gurramkonda VB, Karthik N, Lakkakula B. MTHFR C677T and A1298C polymorphisms and risk of nonsyndromic orofacial clefts in a south Indian population. Int J Pediatr Otorhinolaryngol. 2014;78:339–342. doi:10.1016/j.ijporl.2013.12.005.
  • Jahanbin A, Hasanzadeh N, Abdolhoseinpour F, Sadr-Nabavi A, Raisolsadat M-A, Shamsian K, et al. Analysis of MTHFR Gene C.677C > T and C.1298A > C polymorphisms in Iranian patients with non-syndromic cleft lip and palate. Iran J Public Health. 2014;43:821–827.
  • de Aguiar PKF, Coletta RD, de Oliveira AMLF, Machado RA, Furtado PGC, de Oliveira LA, de Aquino SN, Martelli-Junior H, de Almeida Reis SR, Moreira HSB, et al. rs1801133C > T polymorphism in MTHFR is a risk factor for nonsyndromic cleft lip with or without cleft palate in the Brazilian population. Birth Defects Res Part A, Clin Mol Teratol. 2015;103:292–298. doi:10.1002/bdra.23365.
  • Aşlar D, Özdiler E, Altuğ AT, Taştan H. Determination of Methylenetetrahydrofolate Reductase (MTHFR) gene polymorphism in Turkish patients with nonsyndromic cleft lip and palate. Int J Pediatr Otorhinolaryngol. 2013;77:1143–1146. doi:10.1016/j.ijporl.2013.04.022.
  • Moghimi M, Ahrar H, Karimi-Zarchi M, Aghili K, Salari M, Zare-Shehneh M, Neamatzadeh H. Association of IL-10 rs1800871 and rs1800872 polymorphisms with breast cancer risk: a systematic review and meta-analysis. Asian Pac J Cancer Prev. 2018;19:3353–3359. doi:10.31557/APJCP.2018.19.12.3353.
  • Sobhan MR, Mahdinezhad-Yazdi M, Moghimi M, Aghili K, Jafari M, Zare-Shehneh M, et al. Plasminogen activator inhibitor-1 4G/5G polymorphism contributes to osteonecrosis of the femoral head susceptibility: evidence from a systematic review and meta-analysis. Archiv Bone Joint Surg. 2018;6:468–477.
  • Wyszynski DF, Diehl SR. Infant C677T mutation in MTHFR, maternal periconceptional vitamin use, and risk of nonsyndromic cleft lip. Am J Med Genet. 2000;92:79–80. doi:10.1002/(SICI)1096-8628(20000501)92:1<79::AID-AJMG14>3.0.CO;2-H.
  • Martinelli M, Scapoli L, Pezzetti F, Carinci F, Carinci P, Stabellini G, Bisceglia L, Gombos F, Tognon M. C677T variant form at the MTHFR gene and CL/P: a risk factor for mothers?. Am J Med Genet. 2001;98:357–360. doi:10.1002/1096-8628(20010201)98:4<357::AID-AJMG1108>3.0.CO;2-F.
  • Grunert R-R, Braune A, Schnackenberg E, Schloot W, Krause H. Genetische Unterschiede von Enzymen des Folsäurestoffwechsels bei Patienten mit Lippen-Kiefer-Gaumen-Spalten und ihren Angehörigen. Mund Kiefer Gesichtschir. 2002;6:131–133. doi:10.1007/s10006-001-0361-4.
  • van Rooij I, Vermeij-Keers C, Kluijtmans LAJ, Ocké MC, Zielhuis GA, Goorhuis-Brouwer SM, et al. Does the interaction between maternal folate intake and the methylenetetrahydrofolate reductase polymorphisms affect the risk of cleft lip with or without cleft palate? Am J Epidemiol. 2003;157:583–591. doi:10.1093/aje/kwg005.
  • Ru-Bing Z, Jing-Jing D, Wen-Lii Z, Liying Y. A study on the association between MTHFR gene polymorphism and NSCLC susceptibility. Chin J Dis Control Prev. 2003;7:11–13.
  • Shotelersuk V, Ittiwut C, Siriwan P, Angspatt A. Maternal 677CT/1298AC genotype of the MTHFR gene as a risk factor for cleft lip. J Med Genet. 2003;40:e64–64. doi:10.1136/jmg.40.5.e64.
  • Gaspar DA, Matioli SR, Pavanello R. D C, Araújo BC, Alonso N, Wyszynski D, Passos-Bueno MR. Maternal MTHFR interacts with the offspring’s BCL3 genotypes, but not with TGFA, in increasing risk to nonsyndromic cleft lip with or without cleft palate. Eur J Hum Genet. 2004;12:521–526. doi:10.1038/sj.ejhg.5201187.
  • Pezzetti F, Martinelli M, Scapoli L, Carinci F, Palmieri A, Marchesini J, Carinci P, Caramelli E, Rullo R, Gombos F, et al. Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate. Hum Mutat. 2004;24:104–105. doi:10.1002/humu.9257.
  • Wan W-D, Wang L-J, Zhou X-P, Zhou D-L, Zhang Q-G, Huang J-L, Wang X-N. Relationship between nonsyndromic cleft lip with or without cleft palate (NSCL/P) and genetic polymorphisms of MTHFR C677T and A1298C. Zhonghua Zheng Xing Wai Ke Za Zhi = Zhonghua Zhengxing Waike Zazhi = Chin J Plastic Surg. 2006;22:8–11.
  • Mostowska A, Hozyasz K, Jagodzinski P. Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population. Clin Genet. 2006;69:512–517. doi:10.1111/j.1399-0004.2006.00618.x.
  • Chevrier C, Perret C, Bahuau M, Zhu H, Nelva A, Herman C, Francannet C, Robert-Gnansia E, Finnell RH, Cordier S, et al. Fetal and maternal MTHFR C677T genotype, maternal folate intake and the risk of nonsyndromic oral clefts. Am J Med Genet. 2007;143A:248–257. doi:10.1002/ajmg.a.31462.
  • Mills JL, Molloy AM, Parle-McDermott A, Troendle JF, Brody LC, Conley MR, Cox C, Pangilinan F, Orr DJA, Earley M, et al. Folate-related gene polymorphisms as risk factors for cleft lip and cleft palate. Birth Defect Res A. 2008;82:636–643. doi:10.1002/bdra.20491.
  • Ali A, Singh SK, Raman R. MTHFR 677TT alone and IRF6 820GG together with MTHFR 677CT, but not MTHFR A1298C, are risks for nonsyndromic cleft lip with or without cleft palate in an Indian population. Genet Test Mol Biomarkers. 2009;13:355–360. doi:10.1089/gtmb.2008.0115.
  • Sözen MA, Tolarova MM, Spritz RA. The common MTHFR C677T and A1298C variants are not associated with the risk of non-syndromic cleft lip/palate in northern Venezuela. J Genet Genomics. 2009;36:283–288. doi:10.1016/S1673-8527(08)60116-2.
  • Guo J, Song X, Wang Y, Zhu W, Li S, Li Y. Relationship between genetic polymorphisms of MTHFR C677T and nonsyndromic cleft lip with or without palate. Beijing Da Xue Xue Bao Yi Xue Ban = J Peking Univ Health Sci. 2009;41:432–436.
  • Han Y, Pan Y, Du Y, Tong N, Wang M, Zhang Z, Wan L, Wang L. Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and nonsyndromic orofacial clefts susceptibility in a southern Chinese population. DNA Cell Biol. 2011;30:1063–1068. doi:10.1089/dna.2010.1185.
  • Chorna L, Akopian H, Makukh H, Fedoryk I. Allelic polymorphism of MTHFR, MTR and MTRR genes in patients with cleft lip and/or palate and their mothers. Tsitol Genet. 2011;45:51–56.
  • Semiç-Jusufagiç A, Bircan R, Çelebiler Ö, Erdim M, Akarsu N, Elçioğlu NH. Association between C677T and A1298C MTHFR gene polymorphism and nonsyndromic orofacial clefts in the Turkish population: a case-parent study. Turk J Pediatr. 2012;54:617–625.
  • Kumari P, Ali A, Sukla KK, Singh SK, Raman R. Lower incidence of nonsyndromic cleft lip with or without cleft palate in females: is homocysteine a factor? J Biosci. 2013;38:21–26. doi:10.1007/s12038-013-9298-7.
  • Yushan L, Bin L, Tao L, Li Y, Leke B, Kaddle, et al. Relationship between genetic polymorphism of MTHFR and cleft lip and palate in Xinjiang population. Chin J Clinicians: Electron Ed. 2013;7:4795–4798.
  • Ulucan K, Akcay A, Aksoy B, Boyraz M, Kirac D, Ergec D, et al. Coding regions of MSX1 do not contribute to non-syndromic cleft lip with/without palate in Turkish patients. Int J Clin Pediatr. 2014;3:12–15. doi:10.14740/ijcp136e.
  • Jiang C, Yin N, Zhao Z, Wu D, Wang Y, Li H, Song T. Lack of association between MTHFR, MTR, MTRR, and TCN2 genes and nonsyndromic CL ± P in a Chinese population: case-control study and meta-analysis. Cleft Palate-Craniofacial J. 2015;52:579–587. doi:10.1597/14.067.
  • Estandia-Ortega B, Velázquez-Aragón JA, Alcántara-Ortigoza MA, Reyna-Fabian ME, Villagómez-Martínez S, González-del Angel A. 5,10-Methylenetetrahydrofolate reductase single nucleotide polymorphisms and gene-environment interaction analysis in non-syndromic cleft lip/palate. Eur J Oral Sci. 2014;122:109–113. doi:10.1111/eos.12114.
  • Abdollahi-Fakhim S, Asghari Estiar M, Varghaei P, Alizadeh Sharafi M, Sakhinia M, Sakhinia E. Common mutations of the methylenetetrahydrofolate reductase (MTHFR) gene in non-syndromic cleft lips and palates children in north-west of Iran. Iran J Otorhinolaryngol. 2015;27:7–14.
  • Wang W, Jiao X-H, Wang X-P, Sun X-Y, Dong C. MTR, MTRR, and MTHFR gene polymorphisms and susceptibility to nonsyndromic cleft lip with or without cleft palate. Genet Test Mol Biomarkers. 2016;20:297–303. doi:10.1089/gtmb.2015.0186.
  • Xu X, Pan H, Yu L, Hong Y. Association of MTHFR polymorphisms with nsCL/P in Chinese Uyghur population. Egypt J Med Hum Genet. 2016;17:311–316. doi:10.1016/j.ejmhg.2016.03.003.
  • Ramírez-Chau C, Blanco R, Colombo A, Pardo R, Suazo J. MTHFR c.677C > T is a risk factor for non-syndromic cleft lip with or without cleft palate in Chile. Oral Dis. 2016;22:703–708. doi:10.1111/odi.12533.
  • Shaw GM, Rozen R, Finnell RH, Todoroff K, Lammer EJ. Infant C677T mutation in MTHFR, maternal periconceptional vitamin use, and cleft lip. Am J Med Genet. 1998;80:196–198. doi:10.1002/(SICI)1096-8628(19981116)80:3<196::AID-AJMG2>3.0.CO;2-V.
  • Tolarova MM, van Rooij I, Pastor MV, der Put NMJ, Goldberg AC. HF. A common mutation in the MTHFR gene is a risk factor for nonsyndromic cleft lip and palate anomalies. Am J Hum Genet. 1999;63:A27.
  • Gaspar DA, Pavanello RC, Zatz M, Passos-Bueno MR, Andr⏧ M, Steman S, Wyszynski DF, Matiolli SR. Role of the C677T polymorphism at the MTHFR gene on risk to nonsyndromic cleft lip with/without cleft palate: results from a case-control study in Brazil. Am J Med Genet. 1999;87:197–199. doi:10.1002/(SICI)1096-8628(19991119)87:2<197::AID-AJMG15>3.0.CO;2-M.
  • Noroozi N, Dastgheib SA, Lookzadeh MH, Mirjalili SR, Noorishadkam M, Akbarian-Bafghi MJ, Neamatzadeh H. Association of axis inhibition protein 2 polymorphisms with non-syndromic cleft lip with or without cleft palate in Iranian children. Fetal Pediatr Pathol. 2019;1–9. doi:10.1080/15513815.2019.1636430. [Epub ahead of print].
  • Behunova J, Klimcakova L, Podracka L. Urinary Tract Anomalies associated with MTHFR gene polymorphism C677T in girls. Kidney Blood Press Res. 2011;34:465–471. doi:10.1159/000329935.
  • Yaliwal LV, Desai RM. Methylenetetrahydrofolate reductase mutations, a genetic cause for familial recurrent neural tube defects. Indian J Hum Genet. 2012;18:122–124. doi:10.4103/0971-6866.96680.
  • Zhao M, Ren Y, Shen L, Zhang Y, Zhou B. Association between MTHFR C677T and A1298C polymorphisms and NSCL/P risk in Asians: a meta-analysis. PloS One. 2014;9:e88242. doi:10.1371/journal.pone.0088242.
  • Moghimi M, Sobhan MR, Jarahzadeh MH, Morovati-Sharifabad M, Aghili K, Ahrar H, Zare-Shehneh M, Neamatzadeh H. Association of GSTM1, GSTT1, GSTM3, and GSTP1 genes polymorphisms with susceptibility to osteosarcoma: a case- control study and meta-analysis. Asian Pac J Cancer Prev. 2019;20:675–682. doi:10.31557/APJCP.2019.20.3.675.
  • Niktabar SM, Latifi SM, Moghimi M, Jafari-Nedooshan J, Aghili K, Miresmaeili SM, et al. Association of vitamin D receptor gene polymorphisms with risk of cutaneous melanoma. A meta-analysis based on 40 case-control studies. Przeglad Dermatologiczny. 2019;106:268–279. doi:10.5114/dr.2019.86909.
  • Jafari-Nedooshan J, Moghimi M, Zare M, Heiranizadeh N, Morovati-Sharifabad M, Akbarian-Bafghi MJ, Jarahzadeh MH, Neamatzadeh H. Association of promoter region polymorphisms of IL-10 gene with susceptibility to lung cancer: systematic review and meta-analysis. Asian Pac J Cancer Prev. 2019;20:1951–1957. doi:10.31557/APJCP.2019.20.7.1951.
  • Aflatoonian M, Moghimi M, Akbarian-Bafghi MJ, Morovati-Sharifabad M, Jarahzadeh MH, Neamatzadeh H. Association of TNF- α-308G > A polymorphism with susceptibility to celiac disease: a systematic review and meta-analysis. Arq Gastroenterol. 2019;56:88–94. doi:10.1590/s0004-2803.201900000-20.
  • Mirjalili SA, Moghimi M, Aghili K, Jafari M, Abolbaghaei SM, Neamatzadeh H, Mazaheri M, Zare-Shehneh M. association of promoter region polymorphisms of interleukin-10 gene with susceptibility to colorectal cancer: a systematic review and meta-analysis. Arq Gastroenterol. 2018;55:306–313. doi:10.1590/s0004-2803.201800000-66.

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