Identification of Novel Genomic Variations in Susceptibility to Nonsyndromic Cleft Lip and Palate Patients

Kapil Kumar Avasthi; Srinivasan Muthuswamy; Ambreen AsimAmit AgarwalSarita Agarwal

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Identification of Novel Genomic Variations in Susceptibility to Nonsyndromic Cleft Lip and Palate Patients

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Background: Nonsyndromic cleft lip with or without palate (NSCL/P) is a multifactorial and common birth malformation caused by genetic and environmental factors, as well as by teratogens. Genome-wide association studies found genetic variations with modulatory effects of NSCL/P formation in Chinese and Iranian populations. We aimed to identify the susceptibility of single-nucleotide polymorphisms (SNPs) to nonsyndromic cleft lip with or without palate in the Indian population. Material and Methods: The present study was conducted on NSCL/P cases and controls. Genomic DNA was extracted from peripheral blood and Axiom- Precision Medicine Research Array (PMRA) was performed. The Axiom-PMRA covers 902,527 markers and several thousand novel risk variants. Quality control-passed samples were included for candidate genetic variation identification, gene functional enrichment, and pathway and network analysis. Results: The genome-wide association study identified fourteen novel candidate gene SNPs that showed the most significant association with the risk of NSCL/P, and eight were predicted to have regulatory sequences. Conclusion: The GWAS study showed novel candidate genetic variations in NSCL/P formations. These findings contribute to the understanding of genetic predisposition to nonsyndromic cleft lip with or without palate.

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《pediatric reports》 |2021年第4期|650-657|共8页
作者
Kapil Kumar Avasthi; Srinivasan Muthuswamy; Ambreen AsimAmit AgarwalSarita Agarwal;
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作者单位

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS);

Department of Life Sciences, National Institute of Technology;

Department of Burn and Plastic Surgery, Vivekananda Polyclinic and Institute of Medical Sciences;

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正文语种英语
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NSCL/P; nonsyndromic cleft lip and/or palate; CLP; PMRA; genome-wide association; SNPs NSCL/P; SNPs;

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1. Using whole exome sequencing to identify susceptibility genes associated with nonsyndromic cleft lip with or without cleft palate [J] . Fu Zhenzhen, Yue Jin, Xue LingfaXu YaoxiangDing QianXiao Wenlin Molecular genetics and genomics: MGG . 2023,第1期

机译：Using whole exome sequencing to identify susceptibility genes associated with nonsyndromic cleft lip with or without cleft palate
2. Association of single nucleotide polymorphisms in the IRF6 gene with nonsyndromic cleft lip with or without cleft palate in Kinh Vietnamese patients [J] . Phan Hoanh Duy Ba, Phuong Lam Hoai, Dang Tran NgocTram Duong BichVu Hoang Anh Molecular biology reports . 2023,第2期

机译：Association of single nucleotide polymorphisms in the IRF6 gene with nonsyndromic cleft lip with or without cleft palate in Kinh Vietnamese patients
3. Six-year Burden of Care for Nonsyndromic Unilateral Cleft Lip and Palate Patients: A Comparison Between Cleft Centers and Noncleft Centers [J] . Janssen Pierce L., Ghosh Kanad, Klein Gabriel M.Hou WeiBellber Christopher S.Dagum Alexander B. The Cleft palate-craniofacial journal: official publication of the American Cleft Palate-Craniofacial Association . 2023,第1期

机译：Six-year Burden of Care for Nonsyndromic Unilateral Cleft Lip and Palate Patients: A Comparison Between Cleft Centers and Noncleft Centers
4. Palatoplasty for cleft palate patients: a novel technique for more favorabledento-alveolar development of the maxilla [O] . 野口誠 2008

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Identification of Novel Genomic Variations in Susceptibility to Nonsyndromic Cleft Lip and Palate Patients

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