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The rs738409 polymorphism of the PNPLA3 gene is associated with hepatic steatosis and fibrosis in Brazilian patients with chronic hepatitis C.
BMC Infect Dis. 2017 12 19; 17(1):780.BI

Abstract

BACKGROUND

Prospective studies have shown that 80% of acute hepatitis C virus (HCV) cases progress to chronic infection; approximately 10-20% of patients with these conditions will develop liver cirrhosis within 2 to 3 decades, and 1-5% will develop liver cancer. Some studies have indicated that the rs738409 polymorphism of the PNPLA3 gene is associated with steatosis and the progression of advanced fibrosis. This study assessed the contribution of the PNPLA3 rs738409 polymorphism with regard to the steatosis and degree of liver fibrosis in Brazilian patients diagnosed with chronic hepatitis C.

METHODS

A total of 290 patients were evaluated at the Clinics Hospital of the School of Medicine, University of São Paulo, between 2010 and 2015. The inclusion criteria were age ≥ 18 years and positive anti-HCV antibody and HCV RNA tests. The participants were evaluated based on medical consultation, blood tests, and liver biopsies conducted before specific antiviral therapies were applied. The associations between the rs738409 PNPLA3 gene polymorphism and steatosis and advanced fibrosis were tested under a recessive inheritance model using logistic regression analysis, including age, gender, BMI, ethnicity/color, HOMA-IR, alcohol intake, HCV genotype 3, and the rs58542926 TM6SF2 gene polymorphism as covariates.

RESULTS

The mean age of the patients was 54.9 years old (range, 28 to 82 years), and 124 (42.8%) patients were male; 226 (77.9%) were white, 43 (14.8%) were pardo, and 21 (7.2%) were black Brazilians. Of the patients included in this study, 133 (45.9%) presented with the CC genotype, 63 (21.7%) with the CG genotype, and 94 (32.4%) with the GG genotype of the PNPLA3 gene I148M variant. We observed that the associations between PNPLA3 rs738409 GG genotype and steatosis was significant (OR: 2.16; 95% CI 1.26-3.72). The same genotype was associated to advanced fibrosis too (OR:2.64; 95% CI 1.26-5.53).

CONCLUSIONS

Associations between the rs738409 polymorphism of the PNPLA3 gene genotype GG and hepatic steatosis and advanced fibrosis were observed. Studies are still needed to clarify the influence of these polymorphisms on hepatic steatosis and degree of fibrosis among individuals diagnosed with chronic hepatitis C.

Authors+Show Affiliations

Medical Research Laboratory for Virus (Laboratório de Investigação Médica por Vírus - LIM47) of the Clinics Hospital, School of Medicine, University of São Paulo (Universidade de São Paulo - USP), São Paulo, Brazil.Medical Research Laboratory for Virus (Laboratório de Investigação Médica por Vírus - LIM47) of the Clinics Hospital, School of Medicine, University of São Paulo (Universidade de São Paulo - USP), São Paulo, Brazil.Medical Research Laboratory for Virus (Laboratório de Investigação Médica por Vírus - LIM47) of the Clinics Hospital, School of Medicine, University of São Paulo (Universidade de São Paulo - USP), São Paulo, Brazil.Medical Research Laboratory for Virus (Laboratório de Investigação Médica por Vírus - LIM47) of the Clinics Hospital, School of Medicine, University of São Paulo (Universidade de São Paulo - USP), São Paulo, Brazil.Department of Infectious and Parasitic Diseases, School of Medicine, University of São Paulo, São Paulo, Brazil.Medical Research Laboratory for Virus (Laboratório de Investigação Médica por Vírus - LIM47) of the Clinics Hospital, School of Medicine, University of São Paulo (Universidade de São Paulo - USP), São Paulo, Brazil. Department of Infectious and Parasitic Diseases, School of Medicine, University of São Paulo, São Paulo, Brazil.Medical Research Laboratory for Virus (Laboratório de Investigação Médica por Vírus - LIM47) of the Clinics Hospital, School of Medicine, University of São Paulo (Universidade de São Paulo - USP), São Paulo, Brazil. fatima.tengan@uol.com.br. Department of Infectious and Parasitic Diseases, School of Medicine, University of São Paulo, São Paulo, Brazil. fatima.tengan@uol.com.br.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

29258449

Citation

Manchiero, Caroline, et al. "The Rs738409 Polymorphism of the PNPLA3 Gene Is Associated With Hepatic Steatosis and Fibrosis in Brazilian Patients With Chronic Hepatitis C." BMC Infectious Diseases, vol. 17, no. 1, 2017, p. 780.
Manchiero C, Nunes AKDS, Magri MC, et al. The rs738409 polymorphism of the PNPLA3 gene is associated with hepatic steatosis and fibrosis in Brazilian patients with chronic hepatitis C. BMC Infect Dis. 2017;17(1):780.
Manchiero, C., Nunes, A. K. D. S., Magri, M. C., Dantas, B. P., Mazza, C. C., Barone, A. A., & Tengan, F. M. (2017). The rs738409 polymorphism of the PNPLA3 gene is associated with hepatic steatosis and fibrosis in Brazilian patients with chronic hepatitis C. BMC Infectious Diseases, 17(1), 780. https://doi.org/10.1186/s12879-017-2887-6
Manchiero C, et al. The Rs738409 Polymorphism of the PNPLA3 Gene Is Associated With Hepatic Steatosis and Fibrosis in Brazilian Patients With Chronic Hepatitis C. BMC Infect Dis. 2017 12 19;17(1):780. PubMed PMID: 29258449.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The rs738409 polymorphism of the PNPLA3 gene is associated with hepatic steatosis and fibrosis in Brazilian patients with chronic hepatitis C. AU - Manchiero,Caroline, AU - Nunes,Arielle Karen da Silva, AU - Magri,Mariana Carvalheiro, AU - Dantas,Bianca Peixoto, AU - Mazza,Celso Carmo, AU - Barone,Antonio Alci, AU - Tengan,Fátima Mitiko, Y1 - 2017/12/19/ PY - 2017/02/15/received PY - 2017/12/06/accepted PY - 2017/12/21/entrez PY - 2017/12/21/pubmed PY - 2018/3/16/medline KW - Brazil KW - Fibrosis KW - Hepatitis C KW - PNPLA3 KW - Polymorphism rs58542926 KW - Polymorphism rs738409 KW - Steatosis KW - TM6SF2 SP - 780 EP - 780 JF - BMC infectious diseases JO - BMC Infect. Dis. VL - 17 IS - 1 N2 - BACKGROUND: Prospective studies have shown that 80% of acute hepatitis C virus (HCV) cases progress to chronic infection; approximately 10-20% of patients with these conditions will develop liver cirrhosis within 2 to 3 decades, and 1-5% will develop liver cancer. Some studies have indicated that the rs738409 polymorphism of the PNPLA3 gene is associated with steatosis and the progression of advanced fibrosis. This study assessed the contribution of the PNPLA3 rs738409 polymorphism with regard to the steatosis and degree of liver fibrosis in Brazilian patients diagnosed with chronic hepatitis C. METHODS: A total of 290 patients were evaluated at the Clinics Hospital of the School of Medicine, University of São Paulo, between 2010 and 2015. The inclusion criteria were age ≥ 18 years and positive anti-HCV antibody and HCV RNA tests. The participants were evaluated based on medical consultation, blood tests, and liver biopsies conducted before specific antiviral therapies were applied. The associations between the rs738409 PNPLA3 gene polymorphism and steatosis and advanced fibrosis were tested under a recessive inheritance model using logistic regression analysis, including age, gender, BMI, ethnicity/color, HOMA-IR, alcohol intake, HCV genotype 3, and the rs58542926 TM6SF2 gene polymorphism as covariates. RESULTS: The mean age of the patients was 54.9 years old (range, 28 to 82 years), and 124 (42.8%) patients were male; 226 (77.9%) were white, 43 (14.8%) were pardo, and 21 (7.2%) were black Brazilians. Of the patients included in this study, 133 (45.9%) presented with the CC genotype, 63 (21.7%) with the CG genotype, and 94 (32.4%) with the GG genotype of the PNPLA3 gene I148M variant. We observed that the associations between PNPLA3 rs738409 GG genotype and steatosis was significant (OR: 2.16; 95% CI 1.26-3.72). The same genotype was associated to advanced fibrosis too (OR:2.64; 95% CI 1.26-5.53). CONCLUSIONS: Associations between the rs738409 polymorphism of the PNPLA3 gene genotype GG and hepatic steatosis and advanced fibrosis were observed. Studies are still needed to clarify the influence of these polymorphisms on hepatic steatosis and degree of fibrosis among individuals diagnosed with chronic hepatitis C. SN - 1471-2334 UR - https://www.unboundmedicine.com/medline/citation/29258449/The_rs738409_polymorphism_of_the_PNPLA3_gene_is_associated_with_hepatic_steatosis_and_fibrosis_in_Brazilian_patients_with_chronic_hepatitis_C_ L2 - https://bmcinfectdis.biomedcentral.com/articles/10.1186/s12879-017-2887-6 DB - PRIME DP - Unbound Medicine ER -