rs71518324 in PRKAR1B was associated with the risk of non-syndromic cleft lip with or without cleft palate
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...
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Editorial Office of Stomatology
2025-07-01
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| Series: | Kouqiang yixue |
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| Online Access: | https://www.stomatology.cn/fileup/1003-9872/PDF/1753340161513-1076310118.pdf |
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| author | GAO Yue, PAN Yongchu |
| author_facet | GAO Yue, PAN Yongchu |
| author_sort | GAO Yue, PAN Yongchu |
| collection | DOAJ |
| description | 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 association analysis in the stage Ⅰ population to screen candidate SNPs, and the stage Ⅱ samples were used as validation. The functional annotation 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 sequencing, 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 functional 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. |
| format | Article |
| id | doaj-art-4cc7f18a0787401494e7d7969a99b038 |
| institution | Kabale University |
| issn | 1003-9872 |
| language | zho |
| publishDate | 2025-07-01 |
| publisher | Editorial Office of Stomatology |
| record_format | Article |
| series | Kouqiang yixue |
| spelling | doaj-art-4cc7f18a0787401494e7d7969a99b0382025-08-26T06:49:07ZzhoEditorial Office of StomatologyKouqiang yixue1003-98722025-07-0145748849410.13591/j.cnki.kqyx.2025.07.002rs71518324 in PRKAR1B was associated with the risk of non-syndromic cleft lip with or without cleft palateGAO Yue, PAN Yongchu0Department of Orthodontics, The Affiliated Stomatological Hospital of Nanjing Medical University, Nanjing 210029, ChinaObjective 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 association analysis in the stage Ⅰ population to screen candidate SNPs, and the stage Ⅱ samples were used as validation. The functional annotation 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 sequencing, 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 functional 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.https://www.stomatology.cn/fileup/1003-9872/PDF/1753340161513-1076310118.pdf|cleft lip|gwas|panoptosis |
| spellingShingle | GAO Yue, PAN Yongchu rs71518324 in PRKAR1B was associated with the risk of non-syndromic cleft lip with or without cleft palate Kouqiang yixue |cleft lip|gwas|panoptosis |
| title | rs71518324 in PRKAR1B was associated with the risk of non-syndromic cleft lip with or without cleft palate |
| title_full | rs71518324 in PRKAR1B was associated with the risk of non-syndromic cleft lip with or without cleft palate |
| title_fullStr | rs71518324 in PRKAR1B was associated with the risk of non-syndromic cleft lip with or without cleft palate |
| title_full_unstemmed | rs71518324 in PRKAR1B was associated with the risk of non-syndromic cleft lip with or without cleft palate |
| title_short | rs71518324 in PRKAR1B was associated with the risk of non-syndromic cleft lip with or without cleft palate |
| title_sort | rs71518324 in prkar1b was associated with the risk of non syndromic cleft lip with or without cleft palate |
| topic | |cleft lip|gwas|panoptosis |
| url | https://www.stomatology.cn/fileup/1003-9872/PDF/1753340161513-1076310118.pdf |
| work_keys_str_mv | AT gaoyuepanyongchu rs71518324inprkar1bwasassociatedwiththeriskofnonsyndromiccleftlipwithorwithoutcleftpalate |