Association of long interspersed nucleotide element‐1 and interferon regulatory factor 6 methylation changes with nonsyndromic cleft lip with or without cleft palate

Li, Yanhua; Deng, Ying; Deng, Changfei; Xie, Liang; Yu, Li; Liu, Lijun; Yuan, Yufeng; Liu, Hanmin; Dai, Li

doi:10.1111/odi.12965

Cited by 6 publications

(8 citation statements)

References 35 publications

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“…Long interspersed nucleotide element‐1 (LINE‐1) is a marker of global DNA methylation. Studies have reported differential global DNA methylation patterns between NSOFC and controls using the methylation levels of LINE‐1 (Cáceres‐Rojas et al, 2020; Khan et al, 2018, 2019; Li et al, 2019). There is evidence to suggest that genetic variations (c.C677T and c.A1298C) in the MTHFR gene lead to low DNA methylation levels (Frosst et al, 1995; van der Put et al, 1998).…”

Section: Epigeneticsmentioning

confidence: 99%

Genetic and epigenetic studies in non‐syndromic oral clefts

2022

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The etiology of non‐syndromic oral clefts (NSOFC) is complex with genetics, genomics, epigenetics, and stochastics factors playing a role. Several approaches have been applied to understand the etiology of non‐syndromic oral clefts. These include linkage, candidate gene association studies, genome‐wide association studies, whole‐genome sequencing, copy number variations, and epigenetics. In this review, we shared these approaches, genes, and loci reported in some studies.

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Section: Epigeneticsmentioning

confidence: 99%

Genetic and epigenetic studies in non‐syndromic oral clefts

2022

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“…Hypermethylation in blood of nsCL/P was also observed. Li et al [ 21 ] reported hypermethylation of LINE-1 and IRF-6, together with LOC146880 from Howe et al [ 19 ] and CLASRP from Xu et al [ 20 ]. Li et al [ 21 ] collected data from the Chinese Defect Network to identify methylation in blood lymphocytes.…”

Section: Alterations In Dna Methylation Found In Blood Samples Of Pat...mentioning

confidence: 99%

“…Li et al [ 21 ] reported hypermethylation of LINE-1 and IRF-6, together with LOC146880 from Howe et al [ 19 ] and CLASRP from Xu et al [ 20 ]. Li et al [ 21 ] collected data from the Chinese Defect Network to identify methylation in blood lymphocytes. LINE-1 (long interspersed nucleotide element-1) has been widely accepted as a genomic biomarker and shows a strong correlation with levels of global DNA methylation in congenital anomalies [ 22 ].…”

Section: Alterations In Dna Methylation Found In Blood Samples Of Pat...mentioning

confidence: 99%

“…LINE-1 (long interspersed nucleotide element-1) has been widely accepted as a genomic biomarker and shows a strong correlation with levels of global DNA methylation in congenital anomalies [ 22 ]. LINE-1 has been previously reported as showing hypomethylation in cases of neural tube defect [ 20 , 21 , 22 , 23 , 24 ], but it was described as significant hypermethylation in the nsCL/P population. In contrast, Li et al [ 21 ] postulated that the differences in methylated regions of blood cells and different embryonic origins of the body resulted in different patterns of methylation.…”

Section: Alterations In Dna Methylation Found In Blood Samples Of Pat...mentioning

confidence: 99%

“…LINE-1 has been previously reported as showing hypomethylation in cases of neural tube defect [ 20 , 21 , 22 , 23 , 24 ], but it was described as significant hypermethylation in the nsCL/P population. In contrast, Li et al [ 21 ] postulated that the differences in methylated regions of blood cells and different embryonic origins of the body resulted in different patterns of methylation. LINE-1 hypermethylation specifically increased risks of the cleft lip only (CLO), as shown by odd ratio (OR) of CLO: 12.07, OR of CL/P: 6.89, and OR of CLP: 4.83.…”

Section: Alterations In Dna Methylation Found In Blood Samples Of Pat...mentioning

confidence: 99%

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Alterations in DNA Methylation in Orofacial Clefts

Charoenvicha

Sirimaharaj

Khwanngern

et al. 2022

IJMS

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Orofacial clefts are among the most common craniofacial anomalies with multifactorial etiologies, including genetics and environments. DNA methylation, one of the most acknowledged mechanisms of epigenetics, is involved in the development of orofacial clefts. DNA methylation has been examined in patients with non-syndromic cleft lip with cleft palate (nsCL/P) from multiple specimens, including blood, saliva, lip, and palate, as well as experimental studies in mice. The results can be reported in two different trends: hypomethylation and hypermethylation. Both hypomethylation and hypermethylation can potentially increase the risk of nsCL/P depending on the types of specimens and the specific regions on each gene and chromosome. This is the most up-to-date review, intending to summarize evidence of the alterations of DNA methylation in association with the occurrence of orofacial clefts. To make things straightforward to understand, we have systematically categorized the data into four main groups: human blood, human tissues, animal models, and the factors associated with DNA methylation. With this review, we are moving closer to the core of DNA methylation associated with nsCL/P development; we hope this is the initial step to find a genetic tool for early detection and prevention of the occurrence of nsCL/P.

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DNA methylation profile of lip tissue from congenital nonsyndromic cleft lip and palate patients by whole‐genome bisulfite sequencing

Zhang

et al. 2022

Birth Defects Research

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Congenital nonsyndromic cleft lip and palate (NSCLP) is one of the most common malformations worldwide. DNA methylation has been implicated in many diseases. However, its involvement in lip tissue from NSCLP is not well understood. This study aimed to investigate the role of dysregulated DNA methylation in NSCLP. DNA methylation profile was determined in eight injured and five self-normal lip tissue samples from children with NSCLP by whole-genome bisulfite sequencing. A total of 2,711 differentially methylated regions (DMRs), corresponding to 1,231 genes were identified. Given the important role of promoter methylation in regulating gene expression, the promoter DMR-related genes were considered. Bioinformatics analysis demonstrated that some of them showed potential associations with NSCLP.Therefore, the well-known NSCLP susceptibility gene, GLI family zinc finger 2 (GLI2) with an unknown role in its DNA methylation in NSCLP, was selected for further analysis. The promoter hypomethylation and higher mRNA expression level of GLI2 were observed in injured lip tissues by verification in additional samples. Moreover, dual luciferase reporter assay indicated that promoter hypermethylation of GLI2 inhibited its transcription. Overall, this study suggested that abnormal DNA methylation in lip tissue may be correlated with the pathogenesis of congenital NSCLP.

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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

Abstract: Our study suggested that aberrant methylation of LINE-1 and IRF6 might contribute to the development of NSCL/Ps. Further studies are needed to replicate the findings.

Cited by 6 publications

References 35 publications

Genetic and epigenetic studies in non‐syndromic oral clefts

Genetic and epigenetic studies in non‐syndromic oral clefts

Alterations in DNA Methylation in Orofacial Clefts

DNA methylation profile of lip tissue from congenital nonsyndromic cleft lip and palate patients by whole‐genome bisulfite sequencing

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