Genetic variants of MGMT, RHPN2, and FAM49A contributed to susceptibility of nonsyndromic orofacial clefts in a Chinese population
@article{Chen2018GeneticVO, title={Genetic variants of MGMT, RHPN2, and FAM49A contributed to susceptibility of nonsyndromic orofacial clefts in a Chinese population}, author={Chunyu Chen and Qiang Guo and Jinna Shi and Xiao-hui Jiao and Kewen Lv and Xiaotong Liu and Yuxin Jiang and Xiang Hui and Tao Song}, journal={Journal of Oral Pathology \& Medicine}, year={2018}, volume={47}, pages={796–801} }
BACKGROUND
The role of underlying genetic factors in the pathogenesis of nonsyndromic orofacial clefts (NSOC) remains poorly understood. Although genomewide association studies (GWASs) of NSOC have successfully identified a large number of novel genetic risk loci, association results of replication studies are inconsistent across different populations.
METHODS
Six single nucleotide polymorphisms (SNPs) (rs7922405 at 10q26.3, rs73039426 at 19q13.11, rs7552 at 2p24.2, rs1788160 at 8q22.2…
8 Citations
Exploring GRHL3 polymorphisms and SNP-SNP interactions in the risk of nonsyndromic oral clefts in the Brazilian population.
- Medicine, BiologyOral diseases
- 2019
The results confirm the importance of GRHL3 and its interactions with previously NSOC-associated genes, including FAM49A, FOXE1, NTN1 and VAX1, in the pathogenesis of NSOC in the Brazilian population.
Frequent Methylation of O6-Methylguanine DNA Methyltransferase Gene in Patients with Orofacial Cleft
- Biology, Medicine
- 2020
The finding of the elevated frequency of the methylated MGMT gene suggests a possible risk of reduced DNA repair ability in patients with orofacial cleft.
OTT_A_272752 11517..11527
- Biology, Medicine
- 2020
The results indicate that RHPN2 promotes malignant behaviours in ovarian cancer by activating STAT3 signalling.
RHPN2 Promotes Malignant Cell Behaviours in Ovarian Cancer by Activating STAT3 Signalling
- Biology, MedicineOncoTargets and therapy
- 2020
The results indicate that RHPN2 promotes malignant behaviours in ovarian cancer by activating STAT3 signalling.
Integrative analysis of transcriptomics in human craniofacial development reveals novel candidate disease genes
- Biology, MedicinebioRxiv
- 2022
This data comprises the most comprehensive profiling of the transcriptome in the early developing human face to date and reveals hub genes that are specifically expressed in craniofacial tissue and genes which are resistant to mutation in the normal healthy population.
POLIMORFISMOS GENÉTICOS EN PACIENTES CON FISURAS LABIO Y/O PALATINAS NO SINDRÓMICOS
- ChemistryCIENCIA EN DESARROLLO
- 2019
Dentro de los defectos congénitos más frecuentes se encuentran las fisuras labio y/o palatinas (FL/P), presentando una prevalencia de alrededor de 1:1.000 nacimientos vivos. El 70% de FL/P son de…
CYRI-A regulates macropinocytic cup maturation and mediates integrin uptake, limiting invasive migration
- BiologybioRxiv
- 2021
A new role is described for CYRI-A as a highly dynamic regulator of RAC1 activity at macropinosomes, modulating homeostasis of integrin surface presentation, with important functional consequences.
CYRI-A limits invasive migration through macropinosome formation and integrin uptake regulation
- BiologyThe Journal of cell biology
- 2021
CYRI-A is implicate in resolving macropinosome formation by locally sequestering active RAC1 and shows that CYRI-mediated macropinocytosis contributes to integrin internalization, impacting spreading and invasion of cancer cells.
References
SHOWING 1-10 OF 30 REFERENCES
A miRNA-binding-site SNP of MSX1 is Associated with NSOC Susceptibility
- BiologyJournal of dental research
- 2014
The findings showed that rs12532 located within 3′-UTR of MSX1 could influence the risk of developing NSOC, and SNPs in the miRNA-binding sites might play an important role in the development of NSOCs.
No Evidence of Association between 8q24 and Susceptibility to Nonsyndromic Cleft Lip with or without Palate in Japanese Population
- Medicine, BiologyThe Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
- 2012
The results suggest that the 8q24.21 locus is not associated with susceptibility to NSCL±P in Japanese patients and provide further evidence that ethnicity is a strong factor in determining susceptibility loci, albeit using a limited number of samples.
Association of JARID2 polymorphisms with non-syndromic orofacial clefts in northern Chinese Han population.
- Medicine, BiologyJournal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology
- 2015
The data strengthen the conclusion that JARID2 polymorphisms are associated with NSOC susceptibility, and got a weak association between these polymorphisms and NSOC in both single-marker and haplotype analyses.
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
- Medicine, BiologyNature Genetics
- 2009
A 640-kb region at chromosome 8q24.21 was found to contain multiple markers with highly significant evidence for association with the cleft phenotype, including three markers that reached genome-wide significance.
Gene‐gene interaction of single nucleotide polymorphisms in 16p13.3 may contribute to the risk of non‐syndromic cleft lip with or without cleft palate in Chinese case‐parent trios
- BiologyAmerican journal of medical genetics. Part A
- 2017
This study failed to confirm the significant association between SNPs within 16p13.3 and the risk of NSCL/P, but underlined the importance of taking into account potential G × G interactions for the genetic association analysis of NSLI/P.
Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity
- Biology, MedicineNature Communications
- 2017
This study substantially increases the number of genetic susceptibility loci for NSCLP and provides important insights into the genetic aetiology of this common craniofacial malformation.
A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13.
- BiologyHuman molecular genetics
- 2016
A multiethnic genome-wide association study with European, Asian, African and Central and South American ancestry revealed novel CL/P risk loci and suggest new genes involved in craniofacial development, confirming the highly heterogeneous etiology of OFCs.
Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate.
- MedicineThe New England journal of medicine
- 2004
DNA-sequence variants associated with IRF6 are major contributors to cleft lip, with or without cleft palate; moreover, the results for some individual populations from South America and Asia were highly significant.
Gene Interactions Provide Evidence for Signaling Pathways Involved in Cleft Lip/Palate in Humans
- BiologyJournal of dental research
- 2016
An interaction network is proposed in which interferon regulatory factor 6 plays a central role in the etiology of NSCL/P, and 6 gene–gene and gene–folic acid consumption interactions were identified.
SNPs in microRNA target sites and their potential role in human disease
- BiologyOpen Biology
- 2017
How SNPs affect microRNA-binding sites in these regions, and how mRNA stability changes can lead to disease pathogenesis are examined.