Rs28446116 in PTCH1 is associated with non-syndromic cleft lip with or without palate in the Ningxia population, China

Wenyan Ruan; Dandan Chi; Yumeng Wang; Jian Ma; Yongqing Huang

doi:10.1016/j.archoralbio.2023.105660

Rs28446116 in PTCH1 is associated with non-syndromic cleft lip with or without palate in the Ningxia population, China

Arch Oral Biol. 2023 May:149:105660. doi: 10.1016/j.archoralbio.2023.105660. Epub 2023 Feb 23.

Authors

Wenyan Ruan¹, Dandan Chi², Yumeng Wang², Jian Ma³, Yongqing Huang⁴

Affiliations

¹ Ningxia Medical University, Yinchuan, Ningxia, China; State Key Laboratory of Military Stomatology; National Clinical Research Center for Oral Disease; Shaanxi Key laboratory of Stomatology, Department of Oral Biology & Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, the Fourth Military Medical University, Xi'an, China.
² Ningxia Medical University, Yinchuan, Ningxia, China; Ningxia Key Laboratory of Oral Disease Research; Ningxia Key Laboratory of Craniomaxillofacial Deformities Research; Department of Oral and Maxillafacial Surgery, Hospital of Stomatology, the General Hospital of Ningxia Medical University, Yinchuan, Ningxia, China.
³ Ningxia Key Laboratory of Oral Disease Research; Ningxia Key Laboratory of Craniomaxillofacial Deformities Research; Department of Oral and Maxillafacial Surgery, Hospital of Stomatology, the General Hospital of Ningxia Medical University, Yinchuan, Ningxia, China.
⁴ Ningxia Medical University, Yinchuan, Ningxia, China; Ningxia Key Laboratory of Oral Disease Research; Ningxia Key Laboratory of Craniomaxillofacial Deformities Research; Department of Oral and Maxillafacial Surgery, Hospital of Stomatology, the General Hospital of Ningxia Medical University, Yinchuan, Ningxia, China. Electronic address: yongqinghuang_6510@126.com.

PMID: 36870116
DOI: 10.1016/j.archoralbio.2023.105660

Abstract

Objectives: To investigate the association between PTCH1 single nucleotide polymorphism(SNP) and non-syndromic cleft lip with or without palate (NSCL/P) in the Ningxia Hui Autonomous region and predict the function of single nucleotide polymorphism through bioinformatics analysis.

Design: A case-control analysis of 31 single nucleotide polymorphism locus alleles on PTCH1 gene (504 cases and 455 controls) was performed to explore the association between PTCH1 gene polymorphisms and non-syndromic cleft lip with or without palate in Ningxia region. Transcription factors, 3D single nucleotide polymorphism and other related information of single nucleotide polymorphism loci with statistical significance were screened by the case-control experiments, and then analyzed the corresponding transcription factors through the NCBI database.

Results: The case-control study showed that 5 of the 31 single nucleotide polymorphism loci rs357564 (P = 0.0233), rs1805155 (P = 0.0371), rs28446116 (P = 0.0408), rs2282041 (P = 0.0439), rs56119276 (P = 0.0256) had statistically significant differences in allele frequencies between the case and control groups. Bioinformatics analysis revealed that EP300 and RUNX3, among the transcription factors associated with rs28446116, may be associated with the development of non-syndromic cleft lip with or without palate.

Conclusion: PTCH1 gene may be associated with the occurrence of non-syndromic cleft lip with or without palate in the Ningxia region, which may be related to the role of EP300 and RUNX3 in the development of cleft lip and palate.

Keywords: Bioinformatics analysis; Non-syndromic cleft lip with or without cleft palate; PTCH1; Transcription factors.

MeSH terms

Case-Control Studies
China
Cleft Lip* / genetics
Cleft Palate* / genetics
Genetic Predisposition to Disease
Genotype
Humans
Polymorphism, Single Nucleotide
Transcription Factors / genetics

Substances

Transcription Factors
PTCH1 protein, human
Runx3 protein, human
EP300 protein, human