Key result
The 157insMTTTVP variant of the HAVCR1 gene was not associated with hepatitis A infection (haplotype frequency 39% vs 53%; p=ns) or severe disease (41% vs 37%; p=ns).
Why the study?
Is the 157insMTTTVP variant of the HAVCR1 gene associated with a more severe outcome of Hepatitis A infection?
Case-Control (n=148)
No
Is the 157insMTTTVP variant of the HAVCR1 gene associated with a more severe outcome of Hepatitis A infection?
The 157insMTTTVP variant of the HAVCR1 gene was not associated with a more severe outcome of Hepatitis A infection in an Indian population.
Answers are grounded in this paper and cite their sources.
Does not support HAVCR1 variant testing for hepatitis A risk stratification; leaves open genetic determinants in other populations.
INTRODUCTION AND AIM: HAVCR1 protein is the cellular receptor for hepatitis A virus (HAV). Genetic polymorphism in this gene may alter the outcome of HAV infection. In a previous study, a 6-amino acid insertion (157insMTTTVP) in HAVCR1 gene was associated with more severe disease. We decided to investigate this association further. MATERIAL AND METHODS: We sequenced exon 4 of the HAVCR1 gene in patients with clinical hepatitis A attending our institution, and a group of healthy controls in a disease-endemic setting in India. Frequencies of different haplotypes of a genomic region with two overlapping insertion-deletion polymorphisms (indels; rs141023871 and rs139041445) were compared between patients and controls, as well as between patients with and without a severe form of disease (liver failure). RESULTS: The gene had three haplotypes in the region of interest - a short form, an intermediate-form with a 5-amino acid 157insMTTVP insertion and a long-form with a 6-amino acid 157insMTTTVP insertion. The allele frequency (29/150 [19%] vs. 43/146 [29%]; p = ns) and haplotype frequency (29/75 [39%] vs. 39/73 [53%]; p = ns) of the 157insMTTTVP variant were similar in hepatitis A patients and healthy controls (30%). Further, the allele frequency (12/58 [21%] vs. 17/92 [18%]; p = ns) and haplotype frequency (12/29 [41%] vs.17/46 [37%]; p = ns) of the longest variant were also similar in patients with severe and mild disease. DISCUSSION: In the study population, the 157insMTTTVP variant of HAVCR1 gene was not associated with more severe outcome of HAV infection. Further studies in other populations around the world are needed to assess the relation of this genetic variation with disease outcome.
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Benjamin et al. (2018) conducted a case-control in Hepatitis A (n=148). 157insMTTTVP variant of HAVCR1 gene vs. Healthy controls and patients with mild disease was evaluated on Haplotype frequency of the 157insMTTTVP variant in hepatitis A patients compared to healthy controls (p=ns). The 157insMTTTVP variant of the HAVCR1 gene was not associated with hepatitis A infection (haplotype frequency 39% vs 53%; p=ns) or severe disease (41% vs 37%; p=ns).
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