中国宁夏人群中，PTCH1基因上的Rs28446116与非综合征性唇裂伴或不伴腭裂相关。
Rs28446116 in PTCH1 is associated with non-syndromic cleft lip with or without palate in the Ningxia population, China.
作者信息
Ruan Wenyan, Chi Dandan, Wang Yumeng, Ma Jian, Huang Yongqing
机构信息
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.
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.
出版信息
Arch Oral Biol. 2023 May;149:105660. doi: 10.1016/j.archoralbio.2023.105660. Epub 2023 Feb 23.
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.
目的
探讨宁夏回族自治区PTCH1单核苷酸多态性（SNP）与非综合征性唇腭裂（NSCL/P）之间的关联，并通过生物信息学分析预测单核苷酸多态性的功能。
设计
对PTCH1基因上的31个单核苷酸多态性位点等位基因进行病例对照分析（504例病例和455例对照），以探讨宁夏地区PTCH1基因多态性与非综合征性唇腭裂之间的关联。通过病例对照实验筛选具有统计学意义的单核苷酸多态性位点的转录因子、三维单核苷酸多态性及其他相关信息，然后通过NCBI数据库分析相应的转录因子。
结果
病例对照研究显示，31个单核苷酸多态性位点中的5个，即rs357564（P = 0.0233）、rs1805155（P = 0.0371）、rs28446116（P = 0.0408）、rs2282041（P = 0.0439）、rs56119276（P = 0.0256）在病例组和对照组之间的等位基因频率存在统计学显著差异。生物信息学分析显示，与rs28446116相关的转录因子中，EP300和RUNX3可能与非综合征性唇腭裂的发生有关。
结论
PTCH1基因可能与宁夏地区非综合征性唇腭裂的发生有关，这可能与EP300和RUNX3在唇腭裂发生过程中的作用有关。
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