Genetically determined ancestry is more informative than self-reported race in HIV-infected and -exposed children.
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.
University 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.
Stephen A
SA
Spector
Sean S
SS
Brummel
Caroline M
CM
Nievergelt
Adam X
AX
Maihofer
Kumud K
KK
Singh
Murli U
MU
Purswani
Paige L
PL
Williams
Rohan
R
Hazra
Russell
R
Van Dyke
George R
GR
Seage
D002648:Child; D015658:HIV Infections / Q000208:ethnology*; D006801:Humans; D044469:Racial Groups / Q000235:genetics*; D057566:Self Report; D014481:United States / Q000453:epidemiology