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Published on: August 15, 2019
Targeted Resequencing Identifies Novel MAFB Variants Associated With Nonsyndromic Cleft Lip With or Without Cleft
Bi-He Zhang1,2,3, Jia-Lin Sun1, Si-Di Zhang1
1State Key Laboratory of Oral Diseases & National Center for Stomatology & National Clinical Research Center for Oral Diseases & Department of Cleft Lip and Palate, West China Hospital of Stomatology, Sichuan University, Chengdu, Sichuan, China.
Genetic variants near the MAFB gene are linked to nonsyndromic cleft lip with or without palate (NSCL/P) in the Western Han Chinese population. This finding highlights MAFB as a key susceptibility gene for NSCL/P.
Area of Science:
- Genetics
- Developmental Biology
- Oral and Maxillofacial Surgery
Background:
- Nonsyndromic cleft lip with or without palate (NSCL/P) is a common congenital orofacial defect influenced by genetic and environmental factors.
- The musculoaponeurotic fibrosarcoma oncogene family, protein B (MAFB) gene is a potential candidate involved in NSCL/P pathogenesis.
Purpose of the Study:
- To identify novel genetic risk loci associated with NSCL/P.
- To investigate the role of variants in the MAFB gene in the Western Han Chinese population.
Main Methods:
- Targeted region sequencing of the MAFB gene in 159 NSCL/P cases.
- Single-variant association and gene-based burden analyses were performed.
Main Results:
- Significant common variants were identified near the 3' end of the MAFB gene.
- rs6029223 demonstrated a strong association with NSCL/P, NSCLP, and NSCLO.
- rs79836852 and rs200392238 were significantly associated with NSCL/P and NSCLP.
Conclusions:
- Single nucleotide polymorphisms (SNPs) near the 3' end of MAFB are risk factors for NSCL/P and NSCLP.
- The MAFB gene is confirmed as a susceptibility gene for NSCL/P in the studied population.
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