A new study by researchers at Cincinnati Children’s Hospital has uncovered two gene loci associated with an increased risk of atopic dermatitis (AD), commonly known as eczema, in individuals of African ancestry. Published in HGG Advances in September 2024, the study sheds light on the genetic factors contributing to AD, emphasizing the need for more inclusive genomics research to address health disparities.
Examining the Genetic Basis of Eczema
Atopic dermatitis is a chronic inflammatory skin condition that causes severe itching, often leading to significant discomfort. It affects approximately 31.6 million people in the United States, with a particularly high prevalence in children. Beyond the persistent itching, AD is linked to an increased risk of other health issues, including asthma and food allergies. According to the National Eczema Association, over 50% of children with severe AD later develop asthma, and young children with the condition are six times more likely to develop food allergies.
While eczema affects diverse populations, most genetic studies on the condition have primarily focused on individuals of European and East Asian descent. The Cincinnati Children’s study, however, aimed to fill a significant gap in research by examining genetic data from over 1,700 African American participants, including more than 700 individuals with AD.
Uncovering Ancestry-Specific Genetic Variants
The researchers used advanced genetic analysis techniques, including admixture mapping—a method designed for populations with mixed ancestry—and genome-wide association studies, to identify two specific gene loci linked to AD susceptibility in African Americans.
The first locus, rs2195989, is located in the ANGPT1 gene on chromosome 8 (8q23.1), while the second, rs62538818, is situated in the intergenic region between the LURAP1L and MPDZ genes on chromosome 9 (9p23). These genetic variants were not previously identified in studies involving predominantly European populations, highlighting the importance of diverse genetic data in understanding health conditions across different populations.
Dr. Tesfaye Mersha, the study’s corresponding author and lead researcher at Cincinnati Children’s Population Genetics, Ancestry, and Bioinformatics Laboratory, emphasized that these findings underscore the need for genomics research to include diverse populations. “Without diverse representation, genomics research may miss critical insights, potentially exacerbating health disparities,” Mersha explained.
Towards Precision Medicine
The discovery of these gene variants could significantly improve our understanding of how AD manifests and progresses in different populations. With this knowledge, scientists could better tailor treatments based on an individual’s genetic makeup and environmental factors, ultimately paving the way for more personalized care. Mersha advocates for further research into ancestry-specific genetic factors to guide precision medicine in treating AD and other diseases.
“The lack of ancestral diversity in research limits our understanding of the genetic drivers of disease globally,” Mersha said. “Our findings emphasize the importance of inclusive research to ensure equitable healthcare advancements.”
Next Steps in Research
While the study provides valuable insights, the researchers acknowledge that much work remains to translate these genetic findings into practical treatments. Dr. Yadu Gautam, the study’s first author and a researcher at the Division of Asthma Research at Cincinnati Children’s, echoed this sentiment. “More research is needed to understand how these genetic variations influence AD and how they can inform better care.”
The study was supported by grants from the National Institutes of Health (R01 HG011411 and U19AI070235), and included contributions from experts in human genetics, asthma research, and allergy and immunology.
Conclusion
This groundbreaking study is a step toward addressing the gaps in health research related to African American populations. By identifying gene variants specific to individuals with African ancestry, the research opens new doors to more effective and tailored treatments for atopic dermatitis, while also calling for broader inclusion in future genetic studies to reduce health disparities.
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