Background: Methylenetetrahydrofolate reductase (MTHFR) is often associated with the incidence of

orofacial clefts. Folic acid deficiency has gained considerable attention because of its promising role in

modulating diverse clinical condition such as cleft. The objective of the study is to describe the association

of MTHFR A1298C polymorphism and maternal folate intake with an orofacial cleft in Sasak Population.

Method: This study used control case design, the number of the subjects were 148 who were divided into

case groups and their mother (70 issues) and control groups and their mother (78 items). The detection of

Polymorphism MTHFR A1298C used PCR-RFLP and sequencing for confirmation. The information on the

dietary pattern and folic acid intake used FFQ (Food Frequency Questionnaire).

Results: MTHFR A1298C polymorphism was associated with maternal folic acid intake in Sasak (p =

0,001), OR = 14,7 CI 95% (2,49-85,53) for cases and (p= 0,041), OR = 4,4 CI 95%(0,9-19,16) for control

group. Maternal folic acid intake was associated with cleft (p=0,037) OR= 2,7 CI 95% (1,06-6,94) in Sasak

Population.

Conclusion: Maternal folic acid was as the risk factor cleft lip/palate in Sasak population and association

with MTHFR A1298C Polymorphism