Genetic association between ABCG2 rs2231142 polymorphism and psoriasis risk in a Türkiye population

Year 2026, Volume: 6 Issue: 1, 58 - 63, 12.03.2026

Egemen Akgün , Fadime Mutlu İçduygu , Burak Akşan , Işıl Deniz Oğuz

https://doi.org/10.66235/kumj.1906752

https://izlik.org/JA96RL54WH

Abstract

Aims: Psoriasis is a persistent, immune-mediated dermatological condition shaped by both hereditary and environmental influences. The ABCG2 gene, encoding an ATP-binding cassette transporter, is involved in processes such as cellular detoxification, urate handling, and modulation of inflammatory pathways. The rs2231142 single nucleotide polymorphism (G>T) in ABCG2, which reduces transporter efficiency, has been linked to several inflammatory diseases. This study sought to determine whether the rs2231142 variant is associated with psoriasis risk in a Turkish cohort.

Methods: The study included 150 patients with psoriasis and 150 healthy individuals. Genotyping for rs2231142 was performed using the tetra-primer ARMS-PCR method. Data were evaluated under codominant, dominant, and allelic inheritance models.

Results: A significant difference in rs2231142 genotype distribution was observed between cases and controls (TT vs. GG: OR = 1.89, 95% CI = 1.03–3.48; p = 0.040). In the dominant model (GT+TT vs. GG), the variant was also significantly related to higher psoriasis risk (OR = 1.77, 95% CI = 1.11–2.83; p = 0.017). The T allele occurred more frequently in patients (38.3%) compared to controls (27.3%), conferring increased risk (OR = 1.42, 95% CI = 1.05–1.90; adjusted p = 0.021). No statistically significant correlations were found between rs2231142 genotypes and clinical characteristics such as disease duration, Psoriasis Area and Severity Index (PASI) score, or positive family history.

Conclusion: The rs2231142 polymorphism in ABCG2 appears to be associated with a greater likelihood of developing psoriasis, possibly due to reduced transporter activity and intensified inflammatory responses.

Keywords

Psoriasis , ABCG2 , rs2231142 , Tetra-ARMS PCR , polymorphism

References

• 1. Griffiths CEM, Armstrong AW, Gudjonsson JE, Barker J. Psoriasis. Lancet. Apr. 3 2021;397(10281):1301-1315. doi:10.1016/s0140-6736(20)32549-6
• 2. Dand N, Stuart PE, Bowes J, et al. GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets. medRxiv. 2023. doi:10.1101/2023.10.04.23296543
• 3. Nair RP, Stuart PE, Nistor I, et al. Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene. Am J Hum Genet. 2006;78(5):827-851. doi:10.1086/503821
• 4. Tsoi LC, Spain SL, Knight J, et al. Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet. 2012;44(12):1341-8. doi:10.1038/ng.2467
• 5. Hüffmeier U, Lascorz J, Traupe H, et al. Systematic linkage disequilibrium analysis of SLC12A8 at PSORS5 confirms a role in susceptibility to psoriasis vulgaris. J Invest Dermatol. 2005;125(5):906-12. doi:10.1111/j.0022-202X.2005.23847.x
• 6. de Cid R, Riveira-Munoz E, Zeeuwen PL, et al. Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nat Genet. 2009;41(2):211-5. doi:10.1038/ng.313
• 7. Huang YH, See LC, Chang YC, et al. Impact of ABCG2 Gene Polymorphism on the Predisposition to Psoriasis. Genes (Basel). 2021;12(10). doi:10.3390/genes12101601
• 8. Matsuo H, Takada T, Ichida K, et al. Common defects of ABCG2, a high-capacity urate exporter, cause gout: a function-based genetic analysis in a Japanese population. Sci Transl Med. 2009;1(5):5ra11. doi:10.1126/scitranslmed.3000237
• 9. Zámbó B, Bartos Z, Mózner O, et al. Clinically relevant mutations in the ABCG2 transporter uncovered by genetic analysis linked to erythrocyte membrane protein expression. Sci Rep. 2018;8(1):7487. doi:10.1038/s41598-018-25695-z
• 10. Cleophas MC, Joosten LA, Stamp LK, Dalbeth N, Woodward OM, Merriman TR. ABCG2 polymorphisms in gout: insights into disease susceptibility and treatment approaches. Pharmgenomics Pers Med. 2017;10:129-142. doi:10.2147/pgpm.S105854
• 11. Zhang L, Spencer KL, Voruganti VS, et al. Association of functional polymorphism rs2231142 (Q141K) in the ABCG2 gene with serum uric acid and gout in 4 US populations: the PAGE Study. Am J Epidemiol. 2013;177(9):923-32. doi:10.1093/aje/kws330
• 12. Wiese MD, Alotaibi N, O'Doherty C, et al. Pharmacogenomics of NAT2 and ABCG2 influence the toxicity and efficacy of sulphasalazine containing DMARD regimens in early rheumatoid arthritis. Pharmacogenomics J. 2014;14(4):350-5. doi:10.1038/tpj.2013.45
• 13. Ma D, Chua AW, Yang E, et al. Breast cancer resistance protein identifies clonogenic keratinocytes in human interfollicular epidermis. Stem Cell Res Ther. 2015;6(1):43. doi:10.1186/s13287-015-0032-2
• 14. van de Ven R, Lindenberg JJ, Reurs AW, Scheper RJ, Scheffer GL, de Gruijl TD. Preferential Langerhans cell differentiation from CD34(+) precursors upon introduction of ABCG2 (BCRP). Immunol Cell Biol. 2012;90(2):206-15. doi:10.1038/icb.2011.25
• 15. Jin JO, Zhang W, Wong KW, Kwak M, van Driel IR, Yu Q. Inhibition of breast cancer resistance protein (ABCG2) in human myeloid dendritic cells induces potent tolerogenic functions during LPS stimulation. PLoS One. 2014;9(8):e104753. doi:10.1371/journal.pone.0104753
• 16. Köck K, Grube M, Jedlitschky G, et al. Expression of adenosine triphosphate-binding cassette (ABC) drug transporters in peripheral blood cells: relevance for physiology and pharmacotherapy. Clin Pharmacokinet. 2007;46(6):449-70. doi:10.2165/00003088-200746060-00001
• 17. van de Ven R, Oerlemans R, van der Heijden JW, et al. ABC drug transporters and immunity: novel therapeutic targets in autoimmunity and cancer. J Leukoc Biol. 2009;86(5):1075-87. doi:10.1189/jlb.0309147
• 18. Atisha-Fregoso Y, Lima G, Pascual-Ramos V, et al. Rheumatoid Arthritis Disease Activity Is Determinant for ABCB1 and ABCG2 Drug-Efflux Transporters Function. PLoS One. 2016;11(7):e0159556. doi:10.1371/journal.pone.0159556
• 19. Yin X, Low HQ, Wang L, et al. Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility. Nat Commun. 2015;6:6916. doi:10.1038/ncomms7916
• 20. Winchester R, Minevich G, Steshenko V, et al. HLA associations reveal genetic heterogeneity in psoriatic arthritis and in the psoriasis phenotype. Arthritis Rheum. 2012;64(4):1134-44. doi:10.1002/art.33415
• 21. Lu X, Chen M, Shen J, Xu Y, Wu H. IL-1β functionally attenuates ABCG2 and PDZK1 expression in HK-2 cells partially through NF-ĸB activation. Cell Biol Int. 2019;43(3):279-289. doi:10.1002/cbin.11100
• 22. Gęgotek A, Skrzydlewska E. The Role of ABC Transporters in Skin Cells Exposed to UV Radiation. Int J Mol Sci. 2022;24(1). doi:10.3390/ijms24010115
• 23. Zhang M, Mathur A, Zhang Y, et al. Mithramycin represses basal and cigarette smoke-induced expression of ABCG2 and inhibits stem cell signaling in lung and esophageal cancer cells. Cancer Res. 2012;72(16):4178-92. doi:10.1158/0008-5472.Can-11-3983