Liver Cirrhosis in Chronic Hepatitis B Patients Is Associated with Genetic Variations in DNA Repair Pathway Genes

Rybicka, Magda; Woziwodzka, Anna; Sznarkowska, Alicja; Romanowski, Tomasz; Stalke, Piotr; Dręczewski, Marcin; Verrier, Éloi R.; Bielawski, Krzysztof Piotr

doi:10.3390/cancers12113295

Cited by 9 publications

(4 citation statements)

References 69 publications

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“…The study of genetic variations in repair genes has aided the understanding of various pathological mechanisms, describing risks associated with both individual and population genotypes based on the exposure of cells to xenobiotics that lead to genomic instability [ 10 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 ].…”

Section: Discussionmentioning

confidence: 99%

Molecular Epidemiology in Amerindians of the Brazilian Amazon Reveals New Genetic Variants in DNA Repair Genes

Cohen-Paes

Alcântara

Moreira

et al. 2022

Genes

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Native American populations from the Brazilian Amazon have a low genetic diversity and a different genetic profile when compared to people from other continents. Despite this, few studies have been conducted in this group, and there is no description of their genetic data in the various currently existent international databases. The characterization of the genomic profile of a population not only has an impact in studies of population genetics, but also helps to advance diagnostic and therapeutic response studies, leading to the optimization of clinical applicability. Genetic variations in DNA repair genes have been associated with the modulation of susceptibility to various pathologies, as well as in their prognosis and therapy. This is the first study to investigate DNA repair genes in Amerindians from the Brazilian Amazon region. We investigated 13 important DNA repair genes in the exome of 63 Native Americans, comparing our results with those found in 5 continental populations, whose data are available in the Genome Aggregation Database. Our results showed that 57 variants already described in literature were differentially distributed in the Amerindian populations in relation to the continental populations, 7 of which have significant clinical relevance. In addition, 9 new variants were described, suggesting that they are unique to these populations. Our study reinforces the understanding that the Amazonian Native American population presents a unique genetic profile, and our findings may collaborate with the creation of public policies that optimize the quality of life of these groups as well as the Brazilian population, which presents a high degree of interethnic mixing with Amerindian groups.

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Section: Discussionmentioning

confidence: 99%

Molecular Epidemiology in Amerindians of the Brazilian Amazon Reveals New Genetic Variants in DNA Repair Genes

Cohen-Paes

Alcântara

Moreira

et al. 2022

Genes

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“…According to studies, various established etiologies of liver cirrhosis involve inflammation and oxidative stress as hallmarks of pathogenesis. 26,27 In this regard, variations in genes involved in the antioxidant enzymes, 28 DNA repair pathway, 29 immunologically important signaling pathways, and other players in combating oxidative damage were identified as predisposing factors of the disease. 30 Hence, patients with a family history of liver disease would have a lower likelihood of developing cryptogenic hepatic cirrhosis, which is no surprise.…”

Section: Discussionmentioning

confidence: 99%

Liver Cirrhosis of Unknown Etiology and Its Predictors in Eastern Ethiopia

Mekuria,

Nedi,

Gong

et al. 2024

RMHP

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Background:The global burden of liver cirrhosis is increasing, with 2.1 million incident cases and nearly 1.5 million deaths in 2019. Despite the enormous progress in our understanding of the etiology of liver cirrhosis, significant cases of the disease have been reported in Eastern Ethiopia due to unidentified causes. Hence, this study aimed to identify predictors of liver cirrhosis of unknown etiology in Eastern Ethiopia. Methods: A score of 7 out of 11 possible points on the ultrasound-based cirrhosis scale was used as a diagnostic criterion to include 127 liver cirrhosis patients. The study participants' demographic, dietary, lifestyle, and clinical data were gathered using a structured questionnaire and standardized reporting forms. The associations between the outcome (known and unknown etiology) and independent variables were modeled using binary logistic regression analysis. Results: The etiology of liver cirrhosis was known in only 23% of patients and attributed to hepatitis B virus (21%), hepatitis C virus (0.8%), and alcohol abuse (0.8%). Sorghum consumption as a staple food (adjusted odds ratio (AOR) =3.8; 95% CI: 1.2, 12.5), splenomegaly (AOR = 4.0; 95% CI: 1.1, 14.4), and a family history of liver disease (AOR = 0.24; 95% CI: 0.06, 0.91) were significantly associated with liver cirrhosis of unknown etiology. Conclusion: Sorghum consumption was found to be the determinant factor of liver cirrhosis of unknown etiology, suggesting it as a possible source of exposure to aflatoxin B 1 .

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“…Studies indicated that inflammation and oxidative stress play a pathogenic role in liver injury that progresses to liver cirrhosis due to exposure to viral and environmental factors. 45 , 46 This could be explained by genetic alterations in different cellular signaling pathways linked with DNA repair, 47 and immune response. 48 Furthermore, liver metabolic enzymes, both Phase I and Phase II, have a range of genetic polymorphisms that cause genetic predisposition in activation and/or detoxification functions, influence metabolism, and subsequently increase the toxicity of environmental chemical toxins like AFB 1 .…”

Section: Discussionmentioning

confidence: 99%

Contribution of Aflatoxin B1 Exposure to Liver Cirrhosis in Eastern Ethiopia: A Case-Control Study

Mekuria¹,

Xia²,

Ahmed³

et al. 2023

IJGM

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Background Liver cirrhosis is a global health problem due to a large number of disability-associated life years and mortality. However, evidence is scarce on its causes in Eastern-Ethiopia, a place where there is a high prevalence of liver cirrhosis of unknown etiology. This study attempted to identify the risk factors related to liver cirrhosis in the area. Methods A case-control study was conducted at a tertiary care hospital from January 2020 to July 2021. Following diagnoses using an ultrasound-based cirrhosis scale, a total of 127 cases were identified and compared with 253 control patients. A structured questionnaire and data abstraction form were used to collect demographic, lifestyle, and clinical information. A blood sample was also taken from each participant for clinical chemistry, hepatitis B virus (HBV), and hepatitis C virus tests as well as for an aflatoxin B 1 (AFB 1 ) albumin adduct (AF-alb) assay. Binary logistic regression analysis was used to determine predictors of liver cirrhosis. Results AF-alb levels were detected in 75% of the cases and 64% of the controls, with a median (IQR) level of 11 pg/mg (5.5–25) and 7.0 pg/mg (4.3–20.5), respectively (p<0.05). Moreover, the number of subjects with high AF-alb levels (≥8.6 pg/mg) was greater in cases (45%, p<0.05)) than controls (28%). Age ≥55 years (adjusted odds ratio (AOR)=0.4; 95% CI: 0.2, 0.8), being a farmer (AOR= 3.0; 95% CI: 1.5, 6.0), family history of liver disease (AOR= 2.9; 95% CI: 1.1, 7.9), HBV seropositivity (AOR=4.0; 95% CI: 1.9, 8.8), and exposure to high levels of AF-alb (AOR=2.0; 95% CI: 1.1, 3.7) were significantly associated with liver cirrhosis. Conclusion This study found a strong link between AFB 1 exposure and liver cirrhosis. Mitigation of aflatoxin exposure and a better understanding of additional environmental risk factors like pesticides may be necessary to reduce the disease burden in Ethiopia.

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Liver Cirrhosis in Chronic Hepatitis B Patients Is Associated with Genetic Variations in DNA Repair Pathway Genes

Cited by 9 publications

References 69 publications

Molecular Epidemiology in Amerindians of the Brazilian Amazon Reveals New Genetic Variants in DNA Repair Genes

Molecular Epidemiology in Amerindians of the Brazilian Amazon Reveals New Genetic Variants in DNA Repair Genes

Liver Cirrhosis of Unknown Etiology and Its Predictors in Eastern Ethiopia

Contribution of Aflatoxin B1 Exposure to Liver Cirrhosis in Eastern Ethiopia: A Case-Control Study

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