Association of Common Variants in HNF1A Gene with Serum AFP Level in Healthy Chinese Individuals and HCC Patients
Autor: | Xue-jun Li, Mei-lin He, Guo-wei Liang, Dong-hua Shao |
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Jazyk: | angličtina |
Rok vydání: | 2019 |
Předmět: |
Adult
Male medicine.medical_specialty Carcinoma Hepatocellular Article Subject Genotype Clinical Biochemistry Single-nucleotide polymorphism Gastroenterology Polymorphism Single Nucleotide Diagnosis Differential Internal medicine Genetics Carcinoma Biomarkers Tumor Medicine Humans Genetic Predisposition to Disease Hepatocyte Nuclear Factor 1-alpha Allele Molecular Biology neoplasms Genetic Association Studies Tumor marker lcsh:R5-920 business.industry Biochemistry (medical) Liver Neoplasms digestive oral and skin physiology Case-control study General Medicine Middle Aged medicine.disease digestive system diseases HNF1A Hepatocellular carcinoma Case-Control Studies embryonic structures Female alpha-Fetoproteins business lcsh:Medicine (General) Research Article |
Zdroj: | Disease Markers, Vol 2019 (2019) Disease Markers |
ISSN: | 1875-8630 0278-0240 |
Popis: | Although alpha-fetoprotein (AFP) is a widely used tumor marker in hepatocellular carcinoma (HCC), 40% of newly diagnosed patients do not have an elevated AFP level. Research has revealed that mutations in the HNF1A binding site of the AFP gene promoter cause significantly elevated serum AFP levels in patients with hereditary persistence of AFP. This study investigated the relationship between HNF1A genetic variants and serum AFP levels. We examined the association between the HNF1A-rs1169288 (A/C), rs2464196 (G/A), and rs1169310 (C/T) polymorphisms and AFP levels in a healthy Chinese population (n=1010) and HCC patients (n=185). Single nucleotide polymorphisms were genotyped by the amplification refractory mutation system combined with TaqMan probe in real-time PCR. The serum AFP concentrations were measured using the Architect i2000 immunochemistry analyzer. In healthy individuals, serum AFP levels were significantly lower with the rs2464196-AA and rs1169310-TT genotypes. Similar significant differences were observed in HCC patients. Moreover, in HCC patients, the distribution frequencies of rs2464196-AA+AG and rs1169310-TT+TC among those withAFP≤20 ng/mlor ≤400 ng/ml were significantly lower than those in patients withAFP>20 ng/mlor >400 ng/ml. Among all subjects, those carrying the HNF1A-rs2464196-A or rs1169310-T allele tended to have low levels of AFP. However, the HNF1A-rs1169288 polymorphism showed no significant association with the serum AFP level. These findings provide new insight into the genetic determinants of serum AFP level and can aid the differential diagnosis of HCC patients with low serum AFP. |
Databáze: | OpenAIRE |
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