First HIV-limiting genetic variant discovered

Publicly released:
Australia; International; WA

Scientists from the across the globe have collaborated to make the first genetic variant discovery in nearly 30 years of HIV research. The study sought to understand the genetics of people living with HIV who are of African ancestries, with this key population disproportionately affected by the disease. The breakthrough made may lead to new HIV treatment and prevention strategies.

Media release

From: Murdoch University

Scientists from the across the globe have collaborated to make the first genetic variant discovery in nearly 30 years of HIV research.

The study sought to understand the genetics of people living with HIV who are of African ancestries, with this key population disproportionately affected by the disease. The breakthrough made may lead to new HIV treatment and prevention strategies.

This study was led by scientists from the Public Health Agency of Canada’s National Microbiology Laboratory (NML), École Polytechnique Fédérale de Lausanne (EPFL) in Switzerland, and Imperial College London, with Professor Simon Mallal of Murdoch University's Health Futures Institute acting as an international partner and the only Australian contributing author.

Professor Mallal said the discovery of genetic variants may explain transmission rates.

“The findings may explain why certain people in these populations have a lower viral load, which slows down the virus from replicating and transmitting,” said Dr Mallal.

“Although Australia has recorded a steady decline in rates of HIV over the past decade, this research will be significant on a global scale, assisting the UNAIDS goal of ending AIDS as a global health threat by 2030.”

The study assessed the genetics of close to 4,000 people living with HIV, who are of African ancestries around the world and provided informed consent to study how their genetic background influenced their response to the virus.

The scientists found genetic variants that impact a human gene called CHD1L, which restricts HIV replication.

This is the first time this type of natural HIV restriction has been observed. Scientists believe this gene has a role to play in limiting viral replication.

This means that the virus is unable to replicate as quickly or efficiently in people who carry specific genetic variants compared to others who do not. More research is required to fully understand exactly how this gene is limiting viral replication.

This important discovery will help scientists target their efforts to discover new medical interventions for HIV. It can pave the way for the development of new prevention and treatment strategies.

The full study was published in Nature and can be viewed online.

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Funder: This research was supported by the Cambridge NIHR BRC Cell Phenotyping Hub; Funding EPFL School of Life Sciences; Medical Research Council UK grant MR/N02043/X; National Institute for Health Research, UK (Cambridge Biomedical Research Centre), Cambridge Clinical Academic Reserve; Swiss National Science Foundation (SNF 310030L_197721); Sanger core grant (WT206194); and H3ABioNet, supported by the National Institutes of Health Common Fund under grant number U24HG006941. The National Institutes of Health grants and contracts supporting this work are U01 HL146240, U01 HL146201, U01 HL146208, U01 HL146333, P30 AI117943, R01 AI165236 and U54 AI170792. This study was supported in part by the Italian Ministry of University PRIN project 2017TYTWZ3 and by the Italian Ministry of health RF-2019-12369226 to G.P. J.M.M. received a personal 80:20 research grant from Institut d’Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Barcelona, Spain, during 2017–2023. This study has been financed in part within the framework of the SHCS, supported by the Swiss National Science Foundation (grant no. 201369), by SHCS project no. 841 and by the SHCS research foundation. The data are gathered by the Five Swiss University Hospitals, two Cantonal Hospitals, 15 affiliated hospitals and 36 private physicians (listed at http://www.shcs.ch/180-health-care-providers). This project has been funded in part with federal funds from the Frederick National Laboratory for Cancer Research, under contract no. 75N91019D00024 and by the Intramural Research Program of the NIH, Frederick National Lab, Center for Cancer Research. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does the mention of trade names, commercial products or organizations imply endorsement by the US Government. J.F.H. received an award from the Gilead Sciences Research Scholars Program in HIV. H.G.’s fellowship is from Sidney Sussex College, Cambridge. S.F. is supported by the Wellcome Trust (grant no. 220740/Z/20/Z)
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