BHMT polymorphism and susceptibility to PTE in Chinese patients.
Eur Rev Med Pharmacol Sci
; 27(9): 4098-4102, 2023 05.
Article
in En
| MEDLINE
| ID: mdl-37203835
ABSTRACT
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 ANDMETHODS:
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pulmonary Embolism
/
Betaine-Homocysteine S-Methyltransferase
Limits:
Humans
Language:
En
Journal:
Eur Rev Med Pharmacol Sci
Journal subject:
FARMACOLOGIA
/
TOXICOLOGIA
Year:
2023
Document type:
Article
Affiliation country:
China
Publication country:
IT
/
ITALIA
/
ITALY
/
ITÁLIA