Association between inherited monogenic liver disorders and chronic hepatitis C

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dc.contributor.authorPiekuse, Linda
dc.contributor.authorKreile, Madara
dc.contributor.authorZarina, Agnese
dc.contributor.authorSteinberga, Zane
dc.contributor.authorSondore, Valentina
dc.contributor.authorKeiss, Jazeps
dc.contributor.authorLace, Baiba
dc.contributor.authorKrumina, Astrida
dc.contributor.institutionScientific Laboratory of Molecular Genetics
dc.date.accessioned2021-07-01T09:35:01Z
dc.date.available2021-07-01T09:35:01Z
dc.date.issued2014-02
dc.description.abstractAim: To determine the frequencies of mutations that cause inherited monogenic liver disorders in patients with chronic hepatitis C. Methods: This study included 86 patients with chronic hepatitis C (55 men, 31 women; mean age at diagnosis, 38.36 ± 14.52 years) who had undergone antiviral therapy comprising pegylated interferon and ribavirin. Viral load, biochemical parameter changes, and liver biopsy morphological data were evaluated in all patients. The control group comprised 271 unrelated individuals representing the general population of Latvia for mutation frequency calculations. The most frequent mutations that cause inherited liver disorders [gene (mutation): ATP7B (H1069Q), HFE (C282Y, H63D), UGT1A1 (TA)7, and SERPINA1 (PiZ)] were detected by polymerase chain reaction (PCR), bidirectional PCR allele-specific amplification, restriction fragment length polymorphism analysis, and sequencing. Results: The viral genotype was detected in 80 of the 86 patients. Viral genotypes 1, 2, and 3 were present in 61 (76%), 7 (9%), and 12 (15%) patients, respectively. Among all 86 patients, 50 (58%) reached an early viral response and 70 (81%) reached a sustained viral response. All 16 patients who did not reach a sustained viral response had viral genotype 1. Case-control analysis revealed a statistically significant difference in only the H1069Q mutation between patients and controls (patients, 0.057; controls, 0.012; odds ratio, 5.514; 95%CI: 1.119-29.827, P = 0.022). However, the H1069Q mutation was not associated with antiviral treatment outcomes or biochemical indices. The (TA) 7 mutation of the UGT1A1 gene was associated with decreased ferritin levels (beta regression coefficient = -295.7, P = 0.0087). Conclusion: Genetic mutations that cause inherited liver diseases in patients with hepatitis C should be studied in detail.en
dc.description.statusPeer reviewed
dc.format.extent6
dc.format.extent1066631
dc.identifier.citationPiekuse, L, Kreile, M, Zarina, A, Steinberga, Z, Sondore, V, Keiss, J, Lace, B & Krumina, A 2014, 'Association between inherited monogenic liver disorders and chronic hepatitis C', World Journal of Hepatology, vol. 6, no. 2, pp. 92-97. https://doi.org/10.4254/wjh.v6.i2.92
dc.identifier.doi10.4254/wjh.v6.i2.92
dc.identifier.issn1948-5182
dc.identifier.urihttps://dspace.rsu.lv/jspui/handle/123456789/5786
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=84894475304&partnerID=8YFLogxK
dc.language.isoeng
dc.relation.ispartofWorld Journal of Hepatology
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectATP7B
dc.subjectHepatitis C
dc.subjectHepatolenticular degeneration (Wilson's disease)
dc.subjectHFE
dc.subjectSERPINA1
dc.subjectUGT1A1
dc.subject3.1 Basic medicine
dc.subject3.2 Clinical medicine
dc.subject1.1. Scientific article indexed in Web of Science and/or Scopus database
dc.subjectHepatology
dc.subjectSDG 3 - Good Health and Well-being
dc.titleAssociation between inherited monogenic liver disorders and chronic hepatitis Cen
dc.type/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article

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