Novel Gene Variation Can Reduce HIV Levels in People of African Descent

In a significant stride for HIV research, an international group of scientists has uncovered an innovative genetic variant that may naturally lower HIV viral loads in individuals with African heritage. Published in the reputable journal Nature, this breakthrough marks a critical juncture in the battle against the worldwide HIV pandemic. So it is offering fresh insights into viral load management and potential avenues for groundbreaking treatment strategies.

African people

Pursuit of Genetic Insights

With HIV’s enduring threat to global health, the search for novel treatment paths has reached a pressing juncture. The virus has impacted around 38.4 million people worldwide, leading to notable transmission rates and AIDS-related fatalities. But despite advancements in treatment through combination therapies, the number of new infections persists, with 1.5 million reported in 2021.

Enter the recently discovered genetic variation, a ray of hope amidst ongoing challenges. Present in approximately 4% to 13% of those of African lineage, this variant presents a distinctive opportunity for mitigating transmission risks and decelerating disease progression. Importantly, this revelation signifies the first novel genetic variation connected to HIV infection in nearly thirty years. It is underscoring the rarity and importance of this breakthrough.

Revealing the Influence of the Variant

Central to this breakthrough is the prevalence of the genetic variation among individuals of African descent. Roughly 4% to 13% of this population harbor this variant. And it is this genetic anomaly that contributes to the observed decline in HIV viral loads. The variant offers a natural mechanism for diminishing transmission risks and retarding disease advancement. So it is potentially reshaping the landscape of HIV treatment.

Lead researcher Harriet Groom underscores the significance of this discovery in HIV management and HIV treatment success. Groom, an infectious disease research fellow at the University of Cambridge’s department of medicine in the United Kingdom, emphasizes, “This gene seems to play a pivotal role in controlling viral load among individuals of African ancestry. While we are yet to ascertain its precise mechanism, each revelation about HIV control unveils new insights about both the virus and the cell.”

Addressing the Genetic Disparity

A noteworthy facet of this study lies in the researchers’ focus on African populations, which have borne the brunt of the HIV pandemic. Despite this, genetic studies have largely neglected African populations. The research team, cognizant of this gap, opted to delve into the genetic influence on HIV infection within African communities. It was harnessing the extensive genetic diversity within these groups.

Co-first author Paul McLaren, from the Public Health Agency of Canada’s National Microbiology Laboratory, underscores the significance of this approach. “African populations remain significantly underrepresented in human DNA studies, despite facing the highest burden of HIV infection,” states McLaren. He adds, “By studying a substantial sample of people of African ancestry, we have identified a novel genetic variant exclusive to this population, linked to diminished HIV viral loads.”

Unraveling the Mechanism

The newfound gene variant is linked to a region on chromosome 1 housing the CHD1L gene, recognized for its role in repairing damaged DNA. However, the exact mechanism by which the variant curtails HIV viral load remains elusive. Researchers have embarked on a quest to decode this puzzle. They were conducting experiments involving immune cells to dissect how CHD1L gene manipulation influences HIV replication.

The research yielded intriguing findings. When the CHD1L gene was deactivated or suppressed in immune cells, HIV replication displayed heightened efficiency in macrophages, a type of immune cell. This revelation adds complexity to the relationship between HIV replication and viral load, particularly in macrophages, which were not previously considered primary contributors to viral load regulation.

Ramifications for HIV Treatment

The identification of this novel genetic variant holds immense potential for advancing HIV treatment. As researchers tackle the persistent challenges of developing a vaccine and countering drug resistance, this genetic variant offers a potential avenue for pioneering treatment strategies. Study co-author Manjinder Sandhu, from the Faculty of Medicine at Imperial College London, highlights the importance of comprehending how the genetic variant manages HIV replication. He said, it could be a crucial step in combatting the virus.

The world is witnessing over a million new HIV infections annually, and the quest for a cure persevering. So this newfound understanding of genetic mechanisms may pave the way for transformative breakthroughs. As researchers continue their exploration of the intricate interplay between genetics and viral load control, renewed optimism emerges for more effective treatments and a brighter outlook in the global battle against HIV.


  • Dr. Phillip O.Coffin

    Phillip O. Coffin, M.D., M.I.A., F.A.C.P., is the Director of Substance Use Research at the San Francisco Department of Public Health. He is board-certified in internal medicine, infectious diseases, and addiction medicine; specific foci of Dr. Coffin’s training include general infectious diseases, HIV and viral hepatitis, buprenorphine maintenance, addiction management, and drug poisoning.