Анотація
Відомо, що гіперурикемія та пов’язана з нею подагра мають спадковий компонент. У статті представлений літературний огляд наукових поглядів останніх років на гіперурикемію, а саме передумов її виникнення, що зумовлені різними генетичними чинниками. Головну роль відведено аналізу літературних даних зарубіжних авторів. Більшість генів, які пов’язані з рівнем сечової кислоти в сироватці крові, виявлених у GWAS дослідженнях, беруть участь у нирково-транспортній системі нирок. Наприклад, гени транспортерів уратів SLC2A9, ABCG2 і SLC22A12, які є важливими модуляторами рівня сечової кислоти, послідовно асоціюються з рівнем сечової кислоти в сироватці крові та подагрі. Загальний баланс між абсорбцією і секрецією ниркового урата є основним чинником, що визначає концентрацію сечової кислоти в сироватці.
Посилання
Chen C.J., Tseng C.C., Yen J.H. et al. ABCG2 contributes to the development of gout and hyperuricemia in a genomewide association study. Scientific Reports. 2018. Vol. 8 (1). Pp. 3137.
Chizyński K., Rózycka M. Hyperuricemia. Polski Merkuriusz Lekarski. 2005. Vol. 19 (113). Pp. 693–696.
Cleophas M.C., Joosten L.A., Stamp L.K., Dalbeth N. et al. ABCG2 polymorphisms in gout: insights into disease susceptibility and treatment approaches. Pharmgenomics Pers. Med. 2017. Vol. 10. Pp. 129–142.
Dalbeth N., Stamp L.K., Merriman T.R. The genetics of gout: towards personalised medicine? BMC Medicine. 2017. Vol. 15 (1). Pp. 108–113.
Dehghan A., Köttgen A., Yang Q. Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. Lancet. 2003. Vol 372. Pp. 1953–1961.
Friedman T.B. et al. On the loss of uricolytic activity during primate evolution. Silencing of urate oxidase in a hominoid ancestor. Comparative Biochemistry and Physiology. Part B. 1985.Vol. 81 (3). Pp. 653–659.
Higashino T., Takada T., Nakaoka H., et al. Multiple common and rare variants of ABCG2 cause gout. RMD Open. Rheumatic Journal. 2017. Vol. 3(2). Pp. 1–8.
Ismail S., Servet A., Betul P. et al. Hyperuricemia and its related factors in urban population. Rheumatology International. 2009. Vol. 29. Pp. 869–874.
Johnson R. J. The planetary biology of ascorbate and uric acid and their relationship with the epidemic of obesity and cardiovascular disease. Medicine Hypothesis. 2008. Vol. 71 (1). Pp. 22–31.
Köttgen A., Albrecht E., Teumer A., et al. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nature Genetics. 2013. Vol. 45. Pp. 45–154.
Lee C., Caskey C., Wu X. et al. Urate oxidase: primary structure and evolutionary implications. Proceedings of the National Academy of Sciences of the United States of America. 1989. Vol. 86 (23). Pp. 9412–9416.
Merriman T. R, Choi H. K, Dalbeth N. The genetic basis of gout. Rheum Dis Clin North Am. 2014. Vol.40. Pp. 279–90.
Merriman T. R. An update on the genetic architecture of hyperuricemia and gout. Arthritis Res Ther. 2015. Vol. 17 (1). Pp. 98
Parsa A., Brown E., Matthew R. et al Genotype-based changes in serum uric acid affect blood pressure. Kidney International. 2012. Vol.81. Pp. 502–507.
Reginato A., Mount D., Yang I. et al. The genetics of hyperuricaemia and gout. Nature Reviews Rheumatology. 2012. Vol. 69. Pp. 116–119.
Richette P., Bardin T. Gout. Lancet. 2010. Vol. 375 (9711). Pp. 318–328.
Sakiyama M., Matsuo H., Takada Y. et al. Ethnic differences in ATPbinding cassette transporter, sub-family G, member 2 (ABCG2/ BCRP): genotype combinations and estimated functions. Drug Metab Pharmacokinetics. 2014. Vol. 29. Pp. 490–492.
Urano W, Taniguchi A, Inoue E, Sekita C, Ichikawa N, Koseki Y, et al. Effect of genetic polymorphisms on development of gout. J Rheumatol. 2013. Vol. 40. Pp. 1374–1378
Wen C, Yee S, Liang X. et al. Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response. Clin Pharmacol Therapy. 2015. Vol. 97 (5). Pp. 518–525.
Woodward O., Köttgen. M. ABCG transporters and disease. The FEBS Journal. 2011. Vol. 278. Pp. 3215–3225.
Chen C.J., Tseng C.C., Yen J.H. et al. (2018). ABCG2 contributes to the development of gout and hyperuricemia in a genomewide association study. Scientific Reports. Vol. 8 (1). Pp. 3137.
Chizyński K., Rózycka M. (2005). Hyperuricemia. Polski Merkuriusz Lekarski. Vol. 19 (113). Pp. 693–696.
Cleophas M.C., Joosten L.A., Stamp L.K., et al. (2017). ABCG2 polymorphisms in gout: insights into disease susceptibility and treatment approaches. Pharmgenomics Pers. Med. Vol. 10. Pp. 129–142.
Dalbeth N., Stamp L.K., Merriman T.R. (2017). The genetics of gout: towards personalised medicine? BMC Medicine. Vol. 15 (1). Pp. 108–113.
Dehghan A., Köttgen A., Yang Q. (2003). Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. Lancet. Vol. 372. Pp. 1953–1961.
Friedman T.B. et al. (1985). On the loss of uricolytic activity during primate evolution. Silencing of urate oxidase in a hominoid ancestor. Comparative Biochemistry and Physiology. Part B. Vol. 81 (3). Pp. 653–659.
Higashino T., Takada T., Nakaoka H., et al. (2017). Multiple common and rare variants of ABCG2 cause gout. RMD Open. Rheumatic Journal. Vol. 3. Pp. 1–8.
Ismail S., Servet A., Betul P. et al. (2009). Hyperuricemia and its related factors in urban population. Izmir, Turky. Rheumatology International. Vol. 29. Pp. 869–874.
Johnson R. J. (2008). The planetary biology of ascorbate and uric acid and their relationship with the epidemic of obesity and cardiovascular disease. Medicine Hypothesis. Vol. 71 (1). Pp. 22–31.
Köttgen A., Albrecht E., Teumer A., et al. (2013). Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nature Genetics. Vol. 45. Pp. 45–154.
Lee C., Caskey C., Wu X. et al. (1989). Urate oxidase: primary structure and evolutionary implications. Proceedings of the National Academy of Sciences of the United States of America. Vol. 86 (23). Pp. 9412–9416.
Merriman T. R, Choi H. K, Dalbeth N. (2014) The genetic basis of gout. Rheum Dis Clin North Am. Vol.40. Pp.279–90.
Merriman T. R. (2015) An update on the genetic architecture of hyperuricemia and gout. Arthritis Res Ther. Vol. 17 (1). Pp. 98
Parsa A., Brown E., Matthew R. et al Genotype-based changes in serum uric acid affect blood pressure. Kidney International. 2012. Vol.81. Pp. 502–507.
Reginato A., Mount D., Yang I. et al. (2012). The genetics of hyperuricaemia and gout. Nature Reviews Rheumatology. Vol. 69. Pp. 116–119.
Richette P., Bardin T. (2010). Gout. Lancet. Vol. 375 (9711). Pp. 318–328.
Sakiyama M., Matsuo H., Takada Y. et al. (2014). Ethnic differences in ATPbinding cassette transporter, sub-family G, member 2 (ABCG2/ BCRP): genotype combinations and estimated functions. Drug Metab Pharmacokinetics. Vol. 29. Pp. 490–492.
Urano W, Taniguchi A, Inoue E, et al. (2013). Effect of genetic polymorphisms on development of gout. J Rheumatol. 2013. Vol. 40. Pp. 1374–1378.
Wen C, Yee S, Liang X. et al. (2015). Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response. Clin Pharmacol Therapy. Vol. 97 (5). Pp. 518–525.
Woodward O., Köttgen. M. (2011). ABCG transporters and disease. The FEBS Journal. Vol. 278. Pp. 3215–3225.