RGD Reference Report - BHMT polymorphism and susceptibility to PTE in Chinese patients. - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

BHMT polymorphism and susceptibility to PTE in Chinese patients.

Authors: Zhang, W-H  Zhao, S-M  Guo, J-F  Liu, Y-P  Jiang, Y-Q 
Citation: Zhang WH, etal., Eur Rev Med Pharmacol Sci. 2023 May;27(9):4098-4102. doi: 10.26355/eurrev_202305_32317.
RGD ID: 329853743
Pubmed: PMID:37203835   (View Abstract at PubMed)
DOI: DOI:10.26355/eurrev_202305_32317   (Journal Full-text)


OBJECTIVE: Pulmonary thromboembolism (PTE) is as a common form of venous thrombosis and a potentially fatal cardiovascular disorder, which has become a severe clinical problem with high incidence and mortality. The PTE has a strong genetic basis, which contributes up to half of the variance in PTE incidence and susceptibility single-nucleotide polymorphisms (SNPs) is associated with PTE. Betaine homocysteine methyltransferase (BHMT) is an essential enzyme that catalyzes the remethylating reaction from homocysteine to methionine and participates in conserving methionine and detoxifying homocysteine. In this work, we aimed to explore BHMT polymorphism and susceptibility to PTE in Chinese patients.
PATIENTS AND METHODS: Variant loci of the BHMT gene were screened in serum samples of PTE patients, followed by verification using Sanger sequencing. These polymorphic loci were validated in 16 PTE patients and 16 matched normal patients. The frequency differences between the allele and genotypes were compared using the Hardy-Weinberg equilibrium test and Chi-square test.
RESULTS: A SNP was identified in PTE patients and a heterozygous transition of G>A (Arg239Gln) in rs3733890 was found. The variance difference at rs3733890 between normal patients (2/16, 0.125) and PTE patients (9/16, 0.5625) was significant (p<0.01).
CONCLUSIONS: Therefore, we concluded that the BHMT polymorphism, rs3733890 may be a susceptibility SNP for PTE.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
BHMTHumanpulmonary embolism susceptibilityIAGP DNA:SNP:exon 6: p.R239Q G>A (rs3733890) (human)RGD 
BhmtRatpulmonary embolism susceptibilityISOBHMT (Homo sapiens)DNA:SNP:exon 6: p.R239Q G>A (rs3733890) (human)RGD 
BhmtMousepulmonary embolism susceptibilityISOBHMT (Homo sapiens)DNA:SNP:exon 6: p.R239Q G>A (rs3733890) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
BHMTHumanPulmonary thromboembolism susceptibilityIAGP DNA:SNP:exon 6: p.R239Q G>A (rs3733890) (human)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Bhmt  (betaine-homocysteine S-methyltransferase)

Genes (Mus musculus)
Bhmt  (betaine-homocysteine methyltransferase)

Genes (Homo sapiens)
BHMT  (betaine--homocysteine S-methyltransferase)


Additional Information