IADR Abstract Archives
Association between LINE-1 Hypomethylation and the Risk of Non-Syndromic Orofacial Clefts in a Chilean Population.
Objectives: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common birth defects worldwide and in Chile. Numerous studies show that changes in the DNA methylation are present in different pathologies. This study aims to evaluate the association of the global methylation levels of the DNA, using the methylation of Long Interspersed Nuclear Elements 1 (LINE-1), and the risk of non-syndromic orofacial clefts in a Chilean population.
Methods: In a pilot study, we evaluated 45 case and 43 controls paired by age and sex. Oral mucosa swabs were taken from them and total DNA was extracted. We evaluated the global methylation status using 4 points susceptible of methylation of the repetitive elements LINE-1, the percentage of methylation in each point was measured using pyrosequencing of bisulfite-modified DNA. Then, these levels were compared in case and controls.
Results: Our preliminary results showed that there are lower levels of methylation of LINE-1 in global terms in the cases (mean=63.42%+/-5.39) than the controls (mean=67.06%+/-8.2) (p-value=0.0078). The analysis point by point showed no difference in 1 point comparing cases (mean=69.62%+/-6.46) and controls (mean=70.12%+/-11.21) (p-value=0.3998) and the other 3 points presents lower levels of methylation in the cases (mean=58.93%+/-5.18; 59.11%+/-6.6; 66.02%+/-6.43) than the controls (mean=61.42%+/-5.19; 65.49%+/-9.54; 71.21%+/-9.89) (p-values=0.0136; 0.0002; 0.0022 respectively).
Conclusions: The results suggest an association between hypomethylation of the repetitive elements LINE-1 and the risk of non-syndromic orofacial clefts in Chilean population. These results are in concordance with a previous study which reported lower levels of 5-methyl-cytosine in Chilean patients with non-syndromic orofacial clefts.
Methods: In a pilot study, we evaluated 45 case and 43 controls paired by age and sex. Oral mucosa swabs were taken from them and total DNA was extracted. We evaluated the global methylation status using 4 points susceptible of methylation of the repetitive elements LINE-1, the percentage of methylation in each point was measured using pyrosequencing of bisulfite-modified DNA. Then, these levels were compared in case and controls.
Results: Our preliminary results showed that there are lower levels of methylation of LINE-1 in global terms in the cases (mean=63.42%+/-5.39) than the controls (mean=67.06%+/-8.2) (p-value=0.0078). The analysis point by point showed no difference in 1 point comparing cases (mean=69.62%+/-6.46) and controls (mean=70.12%+/-11.21) (p-value=0.3998) and the other 3 points presents lower levels of methylation in the cases (mean=58.93%+/-5.18; 59.11%+/-6.6; 66.02%+/-6.43) than the controls (mean=61.42%+/-5.19; 65.49%+/-9.54; 71.21%+/-9.89) (p-values=0.0136; 0.0002; 0.0022 respectively).
Conclusions: The results suggest an association between hypomethylation of the repetitive elements LINE-1 and the risk of non-syndromic orofacial clefts in Chilean population. These results are in concordance with a previous study which reported lower levels of 5-methyl-cytosine in Chilean patients with non-syndromic orofacial clefts.