# Genetic variations of the SHFL gene associated with hepatitis C virus (HCV) infection in Yunnan population

**Authors:** Mengren Cun, Xingcui Gao, Shuwei Dong, A-Mei Zhang

PMC · DOI: 10.7717/peerj.19367 · 2025-04-28

## TL;DR

This study explores how genetic variations in the SHFL gene may influence hepatitis C virus infection in the Yunnan population.

## Contribution

The study is the first to investigate the association between SHFL gene variants and HCV infection in a specific population.

## Key findings

- Genotypes AT of rs77076061, AG of rs1979262, and CT of rs12611087 are risk factors for HCV infection.
- Genotypes TT of rs77076061, GG of rs1979262, and CC of rs12611087 are less frequent in HCV patients.
- Variants may influence HCV infection by altering RNA structure.

## Abstract

Hepatitis C virus (HCV) infection led to hepatitis C, and even cirrhosis and hepatocellular carcinoma. The SHFL gene belonged to interferon (IFN)-stimulated genes (ISGs) and was identified to inhibit different viruses, including HCV. Whether genetic variations of the SHFL gene was associated with HCV infection was unclear. We collected 347 HCV patients and 448 general controls to genotype three SNPs in the SHFL gene, and analyzed the association between genotypes of SNPs and HCV infection, biochemical indices and disease progression of HCV patients. The results showed that genotype AT of rs77076061 (P = 0.033, OR = 1.515), AG of rs1979262 (P = 0.001, OR = 2.076), and CT of rs12611087 (P = 0.0002, OR = 1.844) were risk factors for HCV infection in Yunnan population. However, genotype TT of rs77076061 (78.1%), GG of rs1979262 (83.9%), and CC of rs12611087 (67.7%) showed statistically lower frequencies in HCV patients than that in controls. No association was found between genotypes of SNPs and biochemical indices or disease progression of patients. Functional prediction and structure alteration of RNA regions contained each single nucleotide polymorphism (SNP) suggested that these genetic variations might influence HCV infection by changing RNA structure. This study firstly investigated the association between genetic variants in the SHFL gene and HCV infection.

## Linked entities

- **Genes:** SHFL (shiftless antiviral inhibitor of ribosomal frameshifting) [NCBI Gene 55337]
- **Diseases:** cirrhosis (MONDO:0005155), hepatocellular carcinoma (MONDO:0007256)

## Full-text entities

- **Diseases:** cirrhosis (MESH:D005355), hepatocellular carcinoma (MESH:D006528), HCV infection (MESH:D006526), hepatitis C (MESH:D019698)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** rs12611087, rs77076061, rs1979262

## Figures

5 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12045275/full.md

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Source: https://tomesphere.com/paper/PMC12045275