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

Creator:

MOLLOY, ANNE MARIE;

Institution: John Wiley
Subject Keywords: cleft lip; cleft palate; oral clefts; folate; folate genes; vitamin B12; transcobalamin gene;
Region:
Description:

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.
METHODS—Cases and their parents were recruited from major surgical centers performing cleft
repairs in Ireland and a support organization. Data on risk factors, medical history, and DNA were
collected. Controls were pregnant women from the greater Dublin area (n = 1,599).
RESULTS—CLP cases numbered 536 and CPO cases 426 after exclusions. CPO mothers were
significantly more likely than controls to be MTHFR 677 TT, OR 1.50 (95% CI: 1.05–2.16; p = .03).
Log-linear analysis showed a borderline association (p = .07). Isolated CPO case mothers were
significantly more likely than controls to be homozygous for the MTHFD1 1958 G→A variant, OR
1.50 (95%CI: 1.08–2.09; p = .02). When multiple cases were added, both CPO cases and case mothers
were significantly more likely to be AA (p = .02 and p = .007, respectively). The CLP case-control
and mother-control analyses also showed significant effects, ORs 1.38 (95% CI: 1.05–1.82; p = .03)
and 1.39 (95% CI: 1.04–1.85; p = .03), respectively.
CONCLUSIONS—Associations were found for both CPO and CLP and MTHFD1 1958 G→A in
cases and case mothers. MTHFR 677 C→T could be a maternal risk factor for clefts but the
association was not strong. Because multiple comparisons were made, these findings require
additional investigation. Given the known association between MTHFD1 1958 G→A and NTDs,
these findings should be explored in more detail.

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Related: http://dx.doi.org/10.1002/bdra.20491
Suggested citation:

MOLLOY, ANNE MARIE; . () Folate-related gene polymorphisms as risk factors for cleft lip and cleft palate. [Online]. Available from: http://publichealthwell.ie/node/624429 [Accessed: 22nd August 2019].

  

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