The role of ABCG2 rs2231142 and SLC2A9 rs1014290 urate transporter gene polymorphisms in the development of chronic non-communicable diseases
O.A. Georginova, D.M. Anokhin, M.M. Masterova, L.A. Gabbasova, T.N. Krasnova, M. Jain, L.M. Samokhodskaya, M.A. Domashenko
Introduction. Hyperuricemia (HU) is a risk factor for a wide spectrum of chronic non-communicable diseases (NCDs). Genetic variants of urate transporters ABCG2 (rs2231142, Q141K) and SLC2A9 (rs1014290) are associated with impaired uric acid (UA) excretion and may modulate the risk of NCDs.
Objective. To investigate the association between NCDs and uric acid metabolism disorders, and to evaluate the role of ABCG2 rs2231142 (c.421C>A, p.Gln141Lys, Q141K) and SLC2A9 rs1014290 urate transporter gene polymorphisms in the development of NCDs.
Materials and methods. A cross-sectional study enrolled 171 metallurgical plant workers with NCDs and HU (serum UA ≥360 µmol/L) and/or urate-lowering therapy: 101 men (59.1%) and 70 women (40.9%), median age 49 [43; 54] years, median BMI 28.0 [25.5; 30.9] kg/m². Biochemical blood analyses, eGFR calculation using the CKD-EPI equation, and genotyping of SLC2A9 rs1014290 and ABCG2 rs2231142 were performed. Multivariable analysis included logistic regression adjusted for age, sex, and eGFR; false discovery rate (FDR) correction was applied using the Benjamini–Hochberg method.
Results. HU was detected in 30.4% of workers, significantly more frequently in men (43.6% vs. 11.4% in women). The leading NCDs were hypertension (48.5%), obesity (36.3%), gout (21.1%), and urolithiasis (10.5%). In multivariable models, HU was independently associated with hypertension (OR 5.19; 95% CI: 1.87–14.44), urolithiasis (OR 5.38; 95% CI: 1.63–17.79), and gout (OR 3.27; 95% CI: 1.39–7.69). Carriage of the ABCG2 minor allele A was associated with urolithiasis (OR 6.28; 95% CI: 2.19–18.03; padj = 0.032), higher serum UA levels, and reduced eGFR compared to C/C homozygotes (p < 0.001). The protective effect of the SLC2A9 allele G against HU (OR 0.41; 95% CI: 0.23–0.75) did not reach statistical significance after FDR correction (padj = 0.095).
Conclusion. HU is independently associated with hypertension, urolithiasis, and gout. Carriage of the ABCG2 rs2231142 minor allele A increases the risk of urate nephrolithiasis. The SLC2A9 polymorphism demonstrates a trend toward a protective effect. Urate transporter genotyping is warranted for personalized prevention of NCDs in metallurgical workers.
For citation: Georginova OA, Anokhin DM, Masterova MM, Gabbasova LA, Krasnova TN, Jain M, Samokhodskaya LM, Domashenko MA. The role of ABCG2 rs2231142 and SLC2A9 rs1014290 urate transporter gene polymorphisms in the development of chronic non-communicable diseases. Therapy (Moscow). 2026;12(5S):51–57.
https://doi.org/10.18565/therapy.2026.5-s5.51-57
Ключевые слова
chronic non-communicable diseases
uric acid
hyperuricemia
ABCG2
SLC2A9
polymorphism
urate transporters
genetics
metallurgy
gout
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Об авторах / Для корреспонденции
Olga A. Georginova, MD, PhD (Medicine), associate professor, senior researcher at the Department of Internal medicine, Medical Research and Education Institute of Lomonosov Moscow State University, Moscow, Russian Federation.E-mail: olga.georginova@gmail.com
ORCID: https://orcid.org/0000-0002-7542-8189. Scopus ID: 12779903300. eLibrary SPIN: 8331-3656
Daniil M. Anokhin, 6th-year student of the Faculty of medicine, Medical Research and Education Institute of Lomonosov Moscow State University, Moscow, Russian Federation.
E-mail: anokhin.daniil.m@gmail.com
ORCID: https://orcid.org/0000-0002-7243-6511
Maria M. Masterova, MD, postgraduate student of the Department of Internal diseases, University Clinic of the Medical Research and Education Institute of Lomonosov Moscow State University, Moscow, Russian Federation.
E-mail: mmmasterova@mail.ru
ORCID: https://orcid.org/0009-0005-0272-2597
Lyalya A. Gabbasova, MD, PhD (Medicine), associate professor of the Department of Internal medicine, head of the Department of process management in healthcare and public health, director of the University Clinic, Medical Research and Education Institute of Lomonosov Moscow State University, Moscow, Russian Federation.
E-mail: LAGabbasova@mc.msu.ru
ORCID: https://orcid.org/0000-0003-2564-8754. Scopus ID: 57199327205. eLibrary SPIN: 9798-2170
Tatyana N. Krasnova, MD, PhD (Medicine), associate professor, leading researcher, head of the Department of Internal medicine, Medical Research and Education Institute of Lomonosov Moscow State University, Moscow, Russian Federation.
E-mail: krasnovamgu@yandex.ru
ORCID: https://orcid.org/0000-0001-6175-1076. eLibrary SPIN: 5524-6595
Mark Jain, MD, PhD (Medicine), associate professor of the Department of medical microbiology and immunology, senior researcher at the Department of laboratory diagnostics, Medical Research and Education Institute of Lomonosov Moscow State University, Moscow, Russian Federation.
E-mail: jain-mark@outlook.com
ORCID: https://orcid.org/0000-0002-6594-8113
Larisa M. Samokhodskaya, MD, PhD (Medicine), associate professor, head of the Department of laboratory diagnostics, associate professor of the Department of medical microbiology and immunology, senior researcher at the Eurasian Center for Food Security, Medical Research and Education Institute of Lomonosov Moscow State University, Moscow, Russian Federation.
E-mail: LMSamokhodskaya@mc.msu.ru
ORCID: https://orcid.org/0000-0001-6734-3989. eLibrary SPIN: 5524-6595
Maxim A. Domashenko, MD, PhD (Medicine), director of the University Clinic, head of the Department of neurology and neurosurgery, Moscow Scientific Institute of Neurosciences of Lomonosov Moscow State University, Moscow, Russian Federation.
E-mail: mdomashenko@gmail.com
ORCID: https://orcid.org/0009-0000-3630-6130. eLibrary SPIN: 7277-9083
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