Latinos and Hispanics Prone to Kidney Disease Gene Variant

Risk variants in the apolipoprotein A-I (APOL1) gene on chromosome 22, which were first discovered in African Americans, confer a substantially increased risk of kidney disease, early-onset hypertension, and cardiovascular disease, although disease risk is modified by other genetic factors and by environmental factors.

However, other populations who also share recent ancestry from Africa, such as Hispanic populations, may be at greater risk than expected for APOL1-driven disease. These persons may not undergo testing; however, they may still be at high risk because of the presence of APOL1 risk variants. According to the National Kidney Association, about 10% of the world's population suffers from kidney disease.


Scientists at the Icahn School of Medicine at Mount Sinai (New York, NY, USA) and their colleagues used linked genetic and demographic data from 111 populations in two large studies, the Population Architecture using Genomics and Epidemiology Study and the Consortium on Asthma among African-ancestry Populations in the Americas, to determine the global frequencies of APOL1 risk variants. They inferred risk-allele status using the two G1 alleles (rs60910145 and rs73885319) and the proxy single-nucleotide polymorphism commonly typed for G2 (rs12106505).

The investigators found elevated frequencies of the APOL1 haplotype in African-American, sub-Saharan African, and Western African populations (11% to 32%). However, they also found other populations with elevated frequencies, including Jamaican, Barbadian, Grenadian, and Brazilian from Salvador (>10% to 22%); Trinidadian, Panamanian, Honduran, Haitian, Garifunan, and Palenque (>5% to 10%); and Guyanese, Dominican, Peruvian, Belizean, and Native American (1% to 5%). These findings show that the risk alleles are present in populations of persons who are not typically screened, which may result in the under diagnosis and under treatment of kidney disease and related coexisting conditions.

Girish Nadkarni, MD, MPH, an Assistant Professor of Medicine and study first author, said, “This finding is crucial in early detection of at-risk individuals who may not be indicated for genetic screening due to self-reporting of ethnic origins, but may still be at high risk due to the presence of APOL1 risk variants. It is important to more fully understand the global distribution of these variants based on country of origin and genetic ancestry rather than self-reported race/ethnic group.” The study was published on December 27, 2018, in the journal The New England Journal of Medicine.

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Icahn School of Medicine at Mount Sinai