rs71518324 in PRKAR1B was associated with the risk of non-syndromic cleft lip with or without cleft palate
10.13591/j.cnki.kqyx.2025.07.002
- VernacularTitle:泛凋亡基因PRKAR1B中rs71518324与非综合征型唇腭裂风险相关
- Author:
Yue GAO
1
;
Yongchu PAN
1
Author Information
1. 南京医科大学口腔疾病研究与防治国家级重点实验室培育建设点,江苏南京(210029);南京医科大学附属口腔医院正畸科,江苏南京(210029);江苏省口腔转化医学工程研究中心,江苏南京(210029)
- Publication Type:Journal Article
- Keywords:
cleft lip;
GWAS;
PANoptosis
- From:
STOMATOLOGY
2025;45(7):488-494
- CountryChina
- Language:Chinese
-
Abstract:
Objective To confirm whether PANoptosis is involved in the occurrence and development of non-syndromic cleft lip with or without cleft palate(NSCL/P)and identify key genetic variations and genes involved.Methods Firstly,a two-stage population was collected for genome-wide association study(GWAS)to determine the correlation between single nucleotide polymorphisms(SNPs)and NSCL/P.Next,the PANoptosis gene set was selected and SNPs were extracted to conduct quality control and gene-based associa-tion analysis in the stage Ⅰ population to screen candidate SNPs,and the stage Ⅱ samples were used as validation.The functional an-notation of Haploreg,RegulomeDB,and ATAC sequencing combined with linkage disequilibrium-based clumping further identified the key functional SNP and risk gene.Finally,expression quantitative trait loci(eQTL)analysis,RNA sequencing,single-cell sequen-cing,and protein-protein interaction analysis were used to predict the regulatory effects of the locus and gene.Results rs71518324 was associated with the risk of NSCL/P(Pmeta＜0.001),and the surrounding region was enriched with a large number of active func-tional element markers.The eQTL effect of rs71518324 on PRKAR1B gene was significant(P＜0.001).The expression of PRKAR1B in RNA sequencing generally increased over time.Five cell clusters were identified in single-cell RNA sequencing,with PRKAR1B mainly localized to the ectoderm.Conclusion rs71518324 in PRKAR1B,a PANoptosis related gene,is significantly associated with NSCL/P risk.
