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The role of p.Val444Ala variant in the ABCB11 gene and susceptibility to biliary atresia in Vietnamese patients
- Source :
- Medicine
- Publication Year :
- 2021
- Publisher :
- Lippincott Williams & Wilkins, 2021.
-
Abstract
- Biliary atresia (BA) is the most serious type of obstructive cholangiopathy that occurs in infants. BA can be the cause of death in children under 2 years if untreated early. However, the etiology of the disease is not known. BA is considered to be the result of the destruction of the bile duct system including the accumulation of bile acids. The bile salt export pump, a transporter protein encoded by the ABCB11 gene, plays the main role in the exportation and accumulation of bile acids. The p.Val444Ala variant in this gene is known to be associated with many cholestatic diseases. However, to date no study have been performed to evaluate the association of this variant with susceptibility to the risk of BA. In this study, we aimed to identify the frequency of p.Val444Ala variant and the risk of BA in Vietnamese patients. The polymerase chain reaction (PCR)– restriction fragment length polymorphism method was used to determine the frequency of alleles c.1331T>C (p.Val444Ala, rs2287622) in the ABCB11 gene in 266 Vietnamese patients with BA and 150 healthy people. The gene segment containing the variant was amplified by PCR with specific primers, after that the PCR products were cut by HaeIII restriction enzyme and analyzed on agarose gel to determine the genotypes. The frequency of alleles was assessed statistically to determine the association between these alleles and the risk of disease in patients. In our study, the frequency of alleles c.1331T>C (p.Val444Ala, rs2287622) in the ABCB11 gene was investigated the first time in the patients with BA. The results showed that CC and TC genotypes were significantly different between BA patients and healthy people (P
- Subjects :
- Male
the risk factor
ABCB11 gene
p.Val444Ala variant
Biopsy
Infant, Newborn
Infant
Observational Study
biliary atresia
General Medicine
Vietnamese patients
Bile Acids and Salts
Asian People
Gene Frequency
Liver Function Tests
Vietnam
Humans
ATP-Binding Cassette Transporters
Female
Genetic Predisposition to Disease
ATP Binding Cassette Transporter, Subfamily B, Member 11
Ultrasonography
Research Article
Subjects
Details
- Language :
- English
- ISSN :
- 15365964 and 00257974
- Volume :
- 100
- Issue :
- 47
- Database :
- OpenAIRE
- Journal :
- Medicine
- Accession number :
- edsair.doi.dedup.....ae408aa557a8aeb7101230b179615642