Title : A SHMT1 variant decreases the risk of nonsyndromic cleft lip with or without cleft palate in Chile.

Pub. Date : 2020 Jan

PMID : 31713293






2 Functional Relationships(s)
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1 OBJECTIVE: To assess the association between polymorphic variants from SHMT1 and MTHFS genes, involved in the cytoplasmic futile folate cycle, and the risk of nonsyndromic cleft lip with or without cleft palate (NSCL/P) in the Chilean population. Folic Acid serine hydroxymethyltransferase 1 Homo sapiens
2 CONCLUSIONS: Owing to the rs1979277 A allele, which reduces the cytoplasmic SHMT activity and has a higher frequency in controls than in NSCL/P cases, we hypothesized that a low enzyme activity may increase the cytoplasmic concentration of folates and, therefore, explain the protective role against OFCs. Folic Acid serine hydroxymethyltransferase 1 Homo sapiens