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Pharmacogenomics and Ethnic Diversity: Optimizing Drug Response Across Populations

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Dr. Fernanda Rodrigues-Soares

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Instituto de Ciências Biológicas e Naturais—ICBN, Universidade Federal do Triângulo Mineiro—UFTM, Uberaba 3838025-350, MG, Brazil
Interests: pharmacogenomics; personalized medicine; ancestry; ethnic groups
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Prof. Dr. Gisely Cardoso De Melo

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1. Fundação de Medicina Tropical Dr. Heitor Vieira Dourado, Instituto de Pesquisa Clínica Carlos Borborema, Manaus 69040-200, AM, Brazil
2. Programa de Pós-Graduação em Medicina Tropical, Universidade do Estado do Amazonas, Manaus 69040-200, AM, Brazil
Interests: pharmacogenomics; infectious diseases; malaria

Special Issue Information

Dear Colleagues,

Variation in individuals’ response to drugs is a global issue that requires further research. Pharmacogenomics has already identified numerous genetic variants that enable us to preemptively determine the toxicity and therapeutic failure of drugs. However, some ethnic groups are underrepresented in pharmacogenomic studies, as most clinical evidence is published based on European populations. Recent studies suggest that other genetic variants outside the known panels may explain the variation in drug response in people with other ethnic backgrounds, such as Afro-Americans and Latin Americans. Therefore, we invite authors to submit pharmacogenomics studies that include underrepresented populations to enhance the robustness of evidence in these populations.

Dr. Fernanda Rodrigues-Soares
Prof. Dr. Gisely Cardoso De Melo
Guest Editors

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18 pages, 416 KB

Open AccessArticle

Genetic Polymorphisms in SCN1A Gene (rs6432860) and Pharmacoresistance to Antiepileptic Drugs Among Jordanian Patients with Epilepsy

by Hanen Al-Sadir, Ayat Al-Farhood, Al-Motassem Yousef, Rami Abduljabbar, Shayma Abdullah, Ali Abuhaliema and Violet Kasabri

Pharmaceuticals 2026, 19(5), 712; https://doi.org/10.3390/ph19050712 - 30 Apr 2026

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Abstract

Background: We investigated whether common variants in SCN1A are associated with antiepileptic drug (AED) non-response in Jordanian patients with epilepsy. Methods: We recruited 114 patients (105 successfully genotyped) and Sanger-sequenced five loci spanning rs6432860 and its flanking region of rs1531380, rs1531379, rs1531378, and rs10198801. Genotype–response associations were tested using contingency analyses and multivariable logistic regression adjusting for age at the time of the interview, number of AEDs, and carbamazepine use. Pre-specified secondary analyses included (i) stratification by AED class (voltage-gated sodium channel [VGSC]-acting vs. non-VGSC agents) and (ii) sensitivity analyses using alternative non-response thresholds (seizures > 0/year and ≥4/year). Linkage disequilibrium (LD) and exact Hardy–Weinberg equilibrium (HWE) tests were evaluated. Cohort minor allele frequencies (MAFs) were compared with global population estimates. Results: The four upstream previously cataloged intronic variant SNPs (rs1531380, rs1531379, rs1531378, and rs6432860) were in a complete pattern of LD association in this population (D′ = 1; r^{2 =} 1) whereas each upstream variant with rs10198801 showed D′ = 1 with inverse correlation (r ≈ −0.53). All loci conformed to the exact HWE tests. Upstream variants had novel associations with a non-response in unadjusted analyses and remained significant after adjustment (genotype aOR = 2.8; 95% CI = 1.1–7.2; p value = 0.03), alongside independent effects of carbamazepine use (aOR = 3.3; 95% CI = 1.3–8.0; p value = 0.009) and a number of AEDs (aOR = 0.17; 95% CI = 0.06–0.50; p value = 0.002). In AED-class stratification, upstream additional intronic variants had novel associations with a non-response among VGSC-treated patients (OR = 3.8; 95% CI = 1.1–13.6; p value = 0.03) whereas rs10198801 was associated among non-VGSC patients (OR = 7.9; 95% CI = 0.9–70; p value = 0.04). Findings were robust using a ≥4 seizures/year threshold (recessive model significant) but not using any seizures > 0/year. Cohort MAFs for upstream variants (~48.6%) exceeded European, African, and Asian estimates. Significance: SCN1A upstream intronic variation has a novel association with AED non-response in the Jordanian cohort, shows mechanism-aligned patterns by AED class, persists after covariate adjustment and under a clinically used seizure-frequency threshold, and warrants ancestry-informed replication and functional validation. Full article

(This article belongs to the Special Issue Pharmacogenomics and Ethnic Diversity: Optimizing Drug Response Across Populations)

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