Folate‐related gene polymorphisms as risk factors for cleft lip and cleft palate

Abstract

BACKGROUND-Cleft lip with or without cleft palate (CLP) and cleft palate only (CPO) have an inherited component and, many studies suggest, a relationship with folate. Attempts to find folaterelated genes associated with clefts have, however, often been inconclusive. This study examined four SNPs related to folate metabolism (MTHFR 677 C→T, MTHFR 1298 A→C, MTHFD1 1958 G→A, and TC II 776 C→G) in a large Irish population to clarify their relationship with clefts.

Maternal methylenetetrahydrofolate reductase (MTHFR) gene A1298C polymorphism and risk of nonsyndromic Cleft lip and/or Palate (NSCL/P) in offspring: A meta-analysis

“…Folate has long been considered one such factor in number of observational studies. [2][3][4][5]7,8,15,31 Maternal folic acid supplementation in early pregnancy has been suggested to play a role in the prevention of nonsyndromic orofacial cleft, i.e. cleft lip with or without cleft palate (CL/P).…”

Women with Methylenetetrahydrofolate Reductase Gene Polymorphism and the Need for Proper Periconceptional Folate Supplementation

“…MTHFR gene A1298C locus was analyzed and shown positive and negative association with the cleft lip and palate [15,[69][70][71]. Despite the association between MTHFR C677T polymorphism and CL/P, there still needs more studies to be performed to indicate if the MTHFR gene polymorphism is the independent marker for the CL/P [72][73][74].…”

Meta-analysis of methylenetetrahydrofolate reductase (MTHFR) A1298C polymorphism and risk of orofacial cleft

“…Eleven articles were found to be eligible for the inclusion in the present meta-analysis Grunert et al, 2002;Shoteresuk et al, 2003;van Roij et al, 2003;Pezzetti et al, 2004;Mills et al, 2008;Ali et al, 2009;Sozen et al, 2009;Chorna et al, 2011;SemicJusufagic et al, 2012;Kumari et al, 2013). All these eleven studies were performed in different countries: Argentina , Germany (Grunert et al, 2002), India (Ali et al, 2009;Kumari et al, 2013), Ireland (Mills et al, 2008), Italy (Pezzetti et al, 2004), Netherlands (van Roij et al, 2003), Thailand (Shoteresuk et al, 2003), Ukraine (Chorna et al, 2011), and Venezuela (Sozen et al, 2009).…”

“…All these eleven studies were performed in different countries: Argentina , Germany (Grunert et al, 2002), India (Ali et al, 2009;Kumari et al, 2013), Ireland (Mills et al, 2008), Italy (Pezzetti et al, 2004), Netherlands (van Roij et al, 2003), Thailand (Shoteresuk et al, 2003), Ukraine (Chorna et al, 2011), and Venezuela (Sozen et al, 2009). In one study, Ali et al (2009) reported only allele numbers (Table 1).…”