The IRF6 rs2013162 and MTHFR A1298C rs1801131 Gene Polymorphisms Related to non-Syndromic Cleft lip and Palate among Deutero-Malay in Indonesia.

Abstract

Objective: This study aimed to identify risk factors for NSCLP by analyzing polymorphisms in IRF6 rs2013162 and MTHFR A1298C rs1801131 in the Deutero Malay Population in Indonesia.

Setting: DNA isolation from venous blood samples was done followed by PCR and PCR-RFLPs method.

Patients/participants: 115 NSCLP subjects and 120 healthy control subjects.

Main outcome measure(s): The odds ratio (OR) determined to evaluate the risk factors is the main outcome measure.

Material and methods: The study is a case-control design using samples from the venous blood of 115 NSCLP subjects and 120 healthy control subjects. After DNA was extracted, the PCR-RFLPs method was performed using the DdeI restriction enzyme on 100 blood samples of the IRF6 rs2013162 group and Mboll restriction enzyme on 135 blood samples of the MTHFR A1298C rs1801131 group. The Chi-Square test was used with the Exact Fisher alternatives, depending on the expected count value.

Results: The results showed that the T mutant allele (OR = 4.125, P < .05) and GT genotype (OR = 21.00, P < .05) of IRF6 rs2013162 and the C mutant allele (OR = 3.781, P < .05), AC genotype (OR = 5, P < .05) and CC genotype (OR = 9,681, P < .05) of the MTHFR A1298C is associated to a greater risk of NSCLP.

Conclusions: IRF6 rs2013162 and MTHFR A1298C rs1801131 gene polymorphisms are strongly associated with NSCLP among the Deutero Malay population in the Indonesian population.