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Association of long interspersed nucleotide element‐1 and interferon regulatory factor 6 methylation changes with nonsyndromic cleft lip with or without cleft palate
Author(s) -
Li Yanhua,
Deng Ying,
Deng Changfei,
Xie Liang,
Yu Li,
Liu Lijun,
Yuan Yumei,
Liu Hanmin,
Dai Li
Publication year - 2019
Publication title -
oral diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.953
H-Index - 87
eISSN - 1601-0825
pISSN - 1354-523X
DOI - 10.1111/odi.12965
Subject(s) - methylation , odds ratio , dna methylation , medicine , confounding , genetics , risk factor , interferon regulatory factors , oncology , biology , dentistry , gene , transcription factor , gene expression
Abstract Objective To examine the possible associations between methylation changes in the promoter regions of long interspersed nucleotide element‐1 ( LINE ‐1) and interferon regulatory factor 6 gene ( IRF 6 ) and nonsyndromic cleft lip with or without cleft palate ( NSCL /P). Methods A case–control investigation was performed to compare 37 infants affected by NSCL /Ps with 60 babies without cleft malformations. Their genomic DNA samples were obtained, and the LINE ‐1 and IRF 6 methylation levels were measured by using Sequenom MassArray. Unconditional logistic regression was adopted to estimate the odds ratio. Results Infants with NSCL /Ps had a higher methylation level at LINE ‐1 and IRF 6 promoter regions than controls. High levels of LINE ‐1 (≥64.07%) and IRF 6 (≥6.46%) methylation were associated with an increased risk of NSCL /P ( LINE ‐1, OR = 2.63, 95% CI: 1.07–6.57; IRF 6 , OR = 4.73, 95% CI: 2.10–13.07), and the associations remained to be significant after adjusting for potential confounders. Similar associations were also found for cleft lip only, cleft lip, and palate. Conclusion Our study suggested that aberrant methylation of LINE ‐1 and IRF 6 might contribute to the development of NSCL /Ps. Further studies are needed to replicate the findings.