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PubMed2026

A next-generation sequencing-based pharmacogenetic study of ABCB1, ABCC1, and ABCC2 variants associated with antiseizure medication response in Turkish epilepsy patients.

OBJECTIVES: Epilepsy is a chronic neurological disorder characterized by a tendency to have recurrent seizures due to abnormal and excessive neuronal activity in the brain. Genetic variants in adenosine triphosphate (ATP)-binding cassette (ABC) transporter genes, including ABCB1, ABCC1, and ABCC2, may contribute to pharmacoresistance in epilepsy by altering the transport of anti-seizure medications (ASMs) across the blood-brain barrier (BBB). This study aims to explore genetic polymorphisms in the ABCB1, ABCC1, and ABCC2 genes in Turkish epilepsy patients and to assess their impact on responsiveness to ASMs. METHODS: Targeted next-generation sequencing was used for molecular genotyping of the ABCB1, ABCC1, and ABCC2 genes in genomic DNA from 35 patients. RESULTS: A total of nine common variants were analyzed in ABCB1 (rs2032582, rs1045642, rs1128503), ABCC1 (rs35626, rs212087, rs246221), and ABCC2 (rs717620, rs22773697, rs3740066). A statistically significant association was found between ABCB1 rs2032582:T>G and ASMs response in the recessive model (TT + TG vs. GG, p = 0.018, OR = 13.13; 95% CI: 1.69-160.1; Benjamini-Hochberg (BH) FDR-adjusted q = 0.09), with the TT + TG genotypes being more frequent among drug-responsive patients. Haplotype analysis showed that only the ABCB1 rs2032582 G allele was significantly more frequent in drug-persistent patients compared with drug-responsive patients (χ2 = 3.916, p = 0.047). However, none of these associations remained statistically significant after false discovery rate (FDR) correction, and all findings should therefore be interpreted as exploratory. SIGNIFICANCE: The findings suggest that the ABCB1 rs2032582:T>G polymorphism may be associated with variability in treatment response among Turkish epilepsy patients. These results emphasize the potential involvement of ABC transporter-mediated drug efflux mechanisms in impacting the effectiveness of ASMs.

ABCB1↗

PubMed2026

Evolutionary Conservation and Reproductive Expression of ABC Transporter Genes in Two Sphenomorphus Skinks.

ATP-binding cassette (ABC) transporters represent one of the largest membrane protein superfamilies in vertebrates, playing essential roles in translocating diverse substrates across membranes. However, knowledge of ABC transporter genes in reptiles remains limited. In this study, we conducted a comprehensive genome-wide identification and characterization of the ABC gene family in oviparous Sphenomorphus incognitus and viviparous Sphenomorphus indicus. A total of 45 ABC genes were identified in each species and classified into seven subfamilies (ABCA-ABCG). Comparative and phylogenetic analyses revealed a generally conserved gene repertoire, with limited duplication events observed mainly in the ABCA and ABCG subfamilies, whereas other subfamilies (e.g., ABCE, ABCF, and ABCD) remained highly conserved. Interestingly, a lineage-specific duplication of ABCC2 was identified in lizards. Oviductal expression profiling revealed distinct temporal patterns of ABC gene expression across reproductive stages. Several genes, including ABCG1, ABCC3, and ABCD4, exhibited conserved expression trajectories across both species, suggesting shared transcriptional regulation. In contrast, ABCA1, ABCB1, and ABCG2 showed species-specific expression patterns, indicating regulatory divergence between the two lizard species. Overall, ABC gene expression was more dynamic in S. incognitus than in S. indicus. In summary, although the ABC transporter family is structurally conserved, it exhibits lineage-specific evolutionary changes and divergent transcriptional regulation in lizard oviducts. This study provides a foundation for understanding the diversity and regulation of ABC transporter genes in reptiles.

Animals↗