Xinze Xu, Xiaofeng Li, Minxuan Han, Changyue Xing, Guirong Zhu, Xing Cui, Lin Wang, Shu Lou, Yongchu Pan
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The expression quantitative trait locus (eQTL) analysis was examined using Genotype-Tissue Expression (GTEx) and eQTLGen. The role of gene in the development of NSOCs was assessed with correlation and enrichment analysis based on gene expression data in mice craniofacial tissue and zebrafish embryo.</p>\n </section>\n \n <section>\n \n <h3> Results</h3>\n \n <p>We identified that rs8078195 (A > C) in <i>METTL16</i> was suggestively associated with the increased risk of NSOCs (OR = 1.32, <i>p</i> = 1.80E − 03). The region surrounding rs8078195 was subjected to deoxyribonuclease hypersensitivity and enriched with multiple histone modifications. In addition, it had a significant eQTL effect with <i>METTL16</i> in skin tissue and human peripheral blood, which played an important role in NSOCs development. Bioinformatic analysis indicated that <i>METTL16</i> contributed to the development of NSOCs probably by regulating cell cycle process.</p>\n </section>\n \n <section>\n \n <h3> Conclusions</h3>\n \n <p>Rs8078195 in <i>METTL16</i> was associated with the occurrence of NSOCs.</p>\n </section>\n </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":null,"pages":null},"PeriodicalIF":1.6000,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Genetic Variants in METTL16 Affect the Risk of Non-Syndromic Orofacial Clefts\",\"authors\":\"Xinze Xu, Xiaofeng Li, Minxuan Han, Changyue Xing, Guirong Zhu, Xing Cui, Lin Wang, Shu Lou, Yongchu Pan\",\"doi\":\"10.1002/bdr2.2403\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div>\\n \\n \\n <section>\\n \\n <h3> Objective</h3>\\n \\n <p>N6-methyladenosine (m<sup>6</sup>A) is the most prevalent modification of RNA in eukaryotes which is associated with many cellular processes and diseases. Here, our objective is to explore whether genetic variants in m<sup>6</sup>A modification genes are associated with the risk of non-syndrome orofacial clefts (NSOCs).</p>\\n </section>\\n \\n <section>\\n \\n <h3> Methods</h3>\\n \\n <p>The transmission disequilibrium test (TDT) was performed to calculate the association between single nucleotide polymorphisms (SNPs) in m<sup>6</sup>A modification genes and NSOCs risk in 944 case-parent trios. The function of SNP was predicted by HaploReg, RegulomeDB and histone enrichment data. The expression quantitative trait locus (eQTL) analysis was examined using Genotype-Tissue Expression (GTEx) and eQTLGen. The role of gene in the development of NSOCs was assessed with correlation and enrichment analysis based on gene expression data in mice craniofacial tissue and zebrafish embryo.</p>\\n </section>\\n \\n <section>\\n \\n <h3> Results</h3>\\n \\n <p>We identified that rs8078195 (A > C) in <i>METTL16</i> was suggestively associated with the increased risk of NSOCs (OR = 1.32, <i>p</i> = 1.80E − 03). The region surrounding rs8078195 was subjected to deoxyribonuclease hypersensitivity and enriched with multiple histone modifications. In addition, it had a significant eQTL effect with <i>METTL16</i> in skin tissue and human peripheral blood, which played an important role in NSOCs development. 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Genetic Variants in METTL16 Affect the Risk of Non-Syndromic Orofacial Clefts
Objective
N6-methyladenosine (m6A) is the most prevalent modification of RNA in eukaryotes which is associated with many cellular processes and diseases. Here, our objective is to explore whether genetic variants in m6A modification genes are associated with the risk of non-syndrome orofacial clefts (NSOCs).
Methods
The transmission disequilibrium test (TDT) was performed to calculate the association between single nucleotide polymorphisms (SNPs) in m6A modification genes and NSOCs risk in 944 case-parent trios. The function of SNP was predicted by HaploReg, RegulomeDB and histone enrichment data. The expression quantitative trait locus (eQTL) analysis was examined using Genotype-Tissue Expression (GTEx) and eQTLGen. The role of gene in the development of NSOCs was assessed with correlation and enrichment analysis based on gene expression data in mice craniofacial tissue and zebrafish embryo.
Results
We identified that rs8078195 (A > C) in METTL16 was suggestively associated with the increased risk of NSOCs (OR = 1.32, p = 1.80E − 03). The region surrounding rs8078195 was subjected to deoxyribonuclease hypersensitivity and enriched with multiple histone modifications. In addition, it had a significant eQTL effect with METTL16 in skin tissue and human peripheral blood, which played an important role in NSOCs development. Bioinformatic analysis indicated that METTL16 contributed to the development of NSOCs probably by regulating cell cycle process.
Conclusions
Rs8078195 in METTL16 was associated with the occurrence of NSOCs.
期刊介绍：
The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks.
Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.
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