10/4/25

 


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The notion that race is irrelevant poses significant risks to health outcomes, particularly because many medical conditions are influenced by racial genetic factors.

Disregarding the existence of race ignores the reality of race-specific pathologies and their biological foundations.

For instance, certain health conditions disproportionately affect black populations due to genetic predispositions. Dismissing race with oversimplified claims like "there’s only one race, the human race" or "race is merely skin deep" jeopardizes the identification and treatment of these conditions, potentially exacerbating health risks for black individuals, as detailed below.


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Genetic Predispositions and Epidemiological Differences Among Populations of African Ancestry


Abstract

Populations of African ancestry exhibit several well-documented genetic predispositions and epidemiological differences in disease prevalence compared to other ethnic groups. Some of these patterns reflect evolutionary adaptations to historical selective pressures such as malaria and trypanosome exposure, while others arise from complex interactions between genetic, environmental, and structural factors. This article reviews major genetic variants and conditions more prevalent among individuals of African descent, including sickle cell disease, APOL1-associated kidney disease, and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Additionally, it summarizes key epidemiological differences in hypertension, diabetes, prostate cancer, and stroke, underscoring the importance of distinguishing biological mechanisms from social determinants in interpreting health disparities.


Introduction

Health outcomes among populations of African ancestry reflect an interplay of genetic, environmental, and structural determinants. Although “race” is a social classification rather than a biologically discrete category, genetic ancestry can influence the frequency of alleles associated with specific diseases (Cooper et al., 2003). Differentiating between these factors is vital to avoid misattributing health disparities solely to biology.

Certain alleles rose in prevalence due to natural selection—most notably in malaria-endemic regions—resulting in conditions such as sickle cell disease (Allison, 1954). Other variants, such as APOL1 risk alleles, have been linked to kidney disease but also to historical protection against Trypanosoma brucei (Genovese et al., 2010). Understanding these patterns allows a nuanced interpretation of genetic predisposition in populations of African descent.


Genetic Conditions Strongly Linked to African Ancestry

Sickle Cell Disease (SCD)

Sickle cell disease results from a point mutation in the HBB gene, substituting valine for glutamic acid at position six of the β-globin chain. This mutation produces abnormal hemoglobin (HbS), which distorts red blood cells under deoxygenated conditions. The HbS allele confers partial protection against Plasmodium falciparum malaria, explaining its evolutionary persistence (Allison, 1954).

In the United States, approximately 1 in 365 Black or African American births are affected by SCD, and about 1 in 13 have sickle cell trait (Centers for Disease Control and Prevention [CDC], 2024). Nearly all SCD cases in the U.S. occur among individuals identifying as Black or of African descent.


APOL1 Variants and Kidney Disease

Two APOL1 alleles, known as G1 and G2, are found almost exclusively among individuals of West African ancestry. These variants substantially increase the risk of focal segmental glomerulosclerosis (FSGS) and accelerate chronic kidney disease (CKD) progression.

The G1 and G2 alleles are believed to have undergone positive selection for conferring resistance to African trypanosomes, which cause sleeping sickness (Genovese et al., 2010; Parsa et al., 2013). Individuals carrying two risk alleles (high-risk genotype) have a sevenfold higher risk of kidney disease progression compared with noncarriers.


Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency

G6PD deficiency, an X-linked enzymatic disorder, is characterized by vulnerability to hemolytic anemia during oxidative stress triggered by certain medications, infections, or foods (e.g., fava beans).

The condition is most common in individuals from sub-Saharan Africa, the Mediterranean, and parts of Asia, reflecting heterozygote advantage through malaria protection (Luzzatto et al., 2016). Global prevalence is estimated at ~7.5%, with higher rates among African ancestry males.


Complex Diseases with Mixed Genetic and Environmental Influences

Hypertension

Hypertension prevalence is highest among non-Hispanic Black adults in the United States. Approximately 56% of Black adults are hypertensive, compared with 48% of White adults (CDC, 2023).

While some genetic variants contribute to differences in salt sensitivity and vascular reactivity (Cooper et al., 2003), most experts attribute the elevated prevalence to social determinants of health—including chronic stress, diet, environmental factors, and inequitable access to care (Flack et al., 2020).


Type 2 Diabetes Mellitus

Type 2 diabetes prevalence among Black/African American adults in the U.S. is approximately 12.7%, compared to 7.5% among non-Hispanic Whites (Office of Minority Health [OMH], 2023).

While some heritable risk factors exist, disparities in obesity, diet, and access to preventive care account for most differences in disease burden and complications, including end-stage renal disease and amputation risk (Spanakis & Golden, 2013).


Prostate Cancer

Black men in the United States have both the highest incidence and mortality from prostate cancer. Incidence is approximately 70% higher, and mortality is more than double that of White men (CDC, 2024).

Although several genome-wide association studies (GWAS) have identified susceptibility loci more common among African ancestry populations (Haiman et al., 2007), differences in screening, diagnosis, and treatment access remain major determinants of mortality disparities.


Stroke and Cardiovascular Outcomes

Stroke incidence and mortality remain significantly higher among Black adults compared to other groups. In 2023, CDC surveillance found persistently higher age-adjusted stroke death rates among Black men and women (CDC, 2023).

Contributing factors include higher rates of hypertension and diabetes, disparities in emergency care, and delayed access to thrombolytic treatment (Howard et al., 2020).


Discussion

These findings illustrate how evolutionary genetics and modern epidemiology intersect within African ancestry populations. Disorders such as sickle cell disease, APOL1-associated nephropathy, and G6PD deficiency arise from adaptive mutations that historically conferred survival advantages. In contrast, complex diseases like hypertension and diabetes represent the combined effects of biological predisposition and socio-environmental inequities.

The persistent health disparities observed among Black populations underscore the need for integrated frameworks that combine genomic data with social determinants of health. Race should not be used as a biological proxy; instead, ancestry-informed genomics offers a more accurate and ethical approach to understanding disease risk (Yudell et al., 2016).


Conclusion

Populations of African ancestry exhibit distinct genetic patterns shaped by evolutionary pressures, yet the excess burden of chronic disease arises largely from social and systemic inequities. Future research should expand ancestry-diverse genomic databases and prioritize interventions that address both biological risk and structural barriers to health equity.


References (APA 7th Edition)

Allison, A. C. (1954). The distribution of the sickle-cell trait in East Africa and elsewhere, and its apparent relationship to the incidence of subtertian malaria. Transactions of the Royal Society of Tropical Medicine and Hygiene, 48(4), 312–318. https://doi.org/10.1016/0035-9203(54)90101-7

Centers for Disease Control and Prevention. (2023). High blood pressure facts and statistics. https://www.cdc.gov/high-blood-pressure/data-research/facts-stats/index.html

Centers for Disease Control and Prevention. (2024). Sickle cell data and statistics. https://www.cdc.gov/sickle-cell/data/index.html

Centers for Disease Control and Prevention. (2024). Cancer and African American people. https://www.cdc.gov/cancer/health-equity/african-american.html

Centers for Disease Control and Prevention. (2023). Stroke mortality — United States, 2023. Morbidity and Mortality Weekly Report, 73(20), 661–666. https://www.cdc.gov/mmwr/volumes/73/wr/mm7320a1.htm

Cooper, R. S., Kaufman, J. S., & Ward, R. (2003). Race and genomics. The New England Journal of Medicine, 348(12), 1166–1170. https://doi.org/10.1056/NEJMsb022863

Flack, J. M., Sica, D. A., Bakris, G., et al. (2020). Management of high blood pressure in Blacks: An update of the International Society on Hypertension in Blacks consensus statement. Hypertension, 56(5), 780–800. https://doi.org/10.1161/HYPERTENSIONAHA.110.152892

Genovese, G., Friedman, D. J., Ross, M. D., et al. (2010). Association of trypanolytic ApoL1 variants with kidney disease in African Americans. Science, 329(5993), 841–845. https://doi.org/10.1126/science.1193032

Haiman, C. A., Patterson, N., Freedman, M. L., et al. (2007). Multiple regions within 8q24 independently affect risk for prostate cancer. Nature Genetics, 39(5), 638–644. https://doi.org/10.1038/ng2015

Howard, G., Howard, V. J., & Judd, S. E. (2020). Stroke disparities: Black–White differences in stroke mortality persist. Stroke, 51(11), 3319–3325. https://doi.org/10.1161/STROKEAHA.120.030212

Luzzatto, L., Ally, M., & Notaro, R. (2016). Glucose-6-phosphate dehydrogenase deficiency. Blood, 136(11), 1225–1240. https://doi.org/10.1182/blood-2015-08-634444

Office of Minority Health. (2023). Diabetes and Black/African Americans. https://minorityhealth.hhs.gov/diabetes-and-blackafrican-americans

Parsa, A., Kao, W. H. L., Xie, D., et al. (2013). APOL1 risk variants, race, and progression of chronic kidney disease. The New England Journal of Medicine, 369(23), 2183–2196. https://doi.org/10.1056/NEJMoa1310345

Spanakis, E. K., & Golden, S. H. (2013). Race/ethnic difference in diabetes and diabetic complications. Current Diabetes Reports, 13(6), 814–823. https://doi.org/10.1007/s11892-013-0421-9

Yudell, M., Roberts, D., DeSalle, R., & Tishkoff, S. (2016). Taking race out of human genetics. Science, 351(6273), 564–565. https://doi.org/10.1126/science.aac4951



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