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Updated: Mar 15, 2026
Isolation of Exosomes from the Plasma of HIV-1 Positive Individuals
Published on: January 5, 2016
Genetically determined ancestry is more informative than self-reported race in HIV-infected and -exposed children
Stephen A Spector1, Sean S Brummel, Caroline M Nievergelt
1University of California, San Diego, La Jolla Rady Children's Hospital-San Diego, San Diego, CA Center for Biostatistics in AIDS Research, Harvard T.H. Chan School of Public Health, Boston, MA Albert Einstein College of Medicine, Bronx Lebanon Hospital, Bronx, New York, NY Departments of Biostatistics Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD Tulane University School of Medicine, New Orleans, LA.
Insights
Genetically determined ancestry (GDA) offers a more accurate assessment of race and ethnicity than self-reported race/ethnicity (SRR) in diverse pediatric cohorts. GDA can also identify ancestry for participants with unrecorded SRR, improving clinical outcome risk assessments.
Area of Science:
- Genetics
- Pediatrics
- Public Health
Background:
- The Pediatric HIV/AIDS Cohort Study (PHACS) is a major longitudinal study of HIV-infected and exposed children in the US.
- Self-reported race/ethnicity (SRR) is commonly used but may not accurately represent diverse populations.
- SRR may be insufficient for assessing health outcomes in ancestry-diverse cohorts.
Purpose of the Study:
- To compare genetically determined ancestry (GDA) with SRR in the PHACS cohort.
- To evaluate the accuracy of SRR in classifying participants' backgrounds.
- To explore the utility of GDA for participants with unrecorded SRR.
Main Methods:
- GDA was estimated using a panel of 41 single nucleotide polymorphisms.
- GDA results were compared with SRR data from 1958 participants.
- Analyses were conducted using different thresholds for GDA superpopulation assignment.
Main Results:
- SRR misclassified participants' superpopulation ancestry in 9.5% to 25% of cases, depending on the GDA threshold.
- Higher GDA thresholds increased the classification of participants as multiracial.
- 71% of participants with unidentified SRR were genetically identified as Eurasian.
Conclusions:
- GDA provides a more robust assessment of race/ethnicity compared to SRR in diverse pediatric populations.
- GDA can be used to assign ancestry for individuals with unrecorded SRR.
- Identifying continental ancestry via GDA may remove race as a variable in clinical outcome risk assessments.
Abstract:
The Pediatric HIV/AIDS Cohort Study (PHACS), the largest ongoing longitudinal study of perinatal HIV-infected (PHIV) and HIV-exposed, uninfected (PHEU) children in the United States, comprises the Surveillance Monitoring of Antiretroviral Therapy [ART] Toxicities (SMARTT) Study in PHEU children and the Adolescent Master Protocol (AMP) that includes PHIV and PHEU children ≥7 years. Although race/ethnicity is often used to assess health outcomes, this approach remains controversial and may fail to accurately reflect the backgrounds of ancestry-diverse populations as represented in the PHACS participants.In this study, we compared genetically determined ancestry (GDA) and self-reported race/ethnicity (SRR) in the PHACS cohort. GDA was estimated using a highly discriminative panel of 41 single nucleotide polymorphisms and compared to SRR. Because SRR was similar between the PHIV and PHEU, and between the AMP and SMARTT cohorts, data for all unique 1958 participants were combined.According to SRR, 63% of study participants identified as Black/African-American, 27% White, and 34% Hispanic. Using the highest percentage of ancestry/ethnicity to identify GDA, 9.5% of subjects were placed in the incorrect superpopulation based on SRR. When ≥50% or ≥75% GDA of a given superpopulation was required, 12% and 25%, respectively, of subjects were placed in the incorrect superpopulation based on SRR, and the percent of subjects classified as multiracial increased. Of 126 participants with unidentified SRR, 71% were genetically identified as Eurasian.GDA provides a more robust assessment of race/ethnicity when compared to self-report, and study participants with unidentified SRR could be assigned GDA using genetic markers. In addition, identification of continental ancestry removes the taxonomic identification of race as a variable when identifying risk for clinical outcomes.
