Abstract
Goal. To study polymorphisms in TNFAIP3 (rs610604) and TNIPI (rs17728338) genes in a sample of psoriasis patients and healthy volunteers from the Russian Federation. Materials and methods. By using allele specific hybridization methods in the form of real-time PCR and RFLP assay (Restriction Fragment Length Polymorphism), single-nucleotide polymorphisms of fragments of the following genes associated with predisposition to the development of psoriasis were studied in whole blood samples taken from psoriasis patients (n = 286) and healthy volunteers (n = 89): TNFAIP3 (rs610604) and TNIPI (rs17728338). Results. Psoriasis patients had a reliable increase in the frequency of the A/C heterozygous genotype of rs610604 polymorphism of the TNFAIP3 gene and A allele of rs17728338 polymorphism of the TNIP1 gene (A/G and A/A genotypes), which makes it possible to treat carriers of these genotypes as people with predisposition to the development of psoriasis, and to treat A/C genotypes of rs610604 polymorphism and A/G and A/A genotypes of rs17728338 polymorphism as predictors of the development of psoriasis in the Russian population. Conclusion. these data broaden the perception of genetic factors associated with the development of psoriasis in persons from the Russian population.
Highlights
Association of polymorphisms in TNFAIP3 and TNIPI genes with predisposition to the development of psoriasis in the Russian population
By using allele specific hybridization methods in the form of real-time PCR and RFLP assay (Restriction Fragment Length Polymorphism), single-nucleotide polymorphisms of fragments of the following genes associated with predisposition to the development of psoriasis were studied in whole blood samples taken from psoriasis patients (n = 286) and healthy volunteers (n = 89): TNFAIP3 and TNIPI
Psoriasis patients had a reliable increase in the frequency of the A/C heterozygous genotype of rs610604 polymorphism of the TNFAIP3 gene and A allele of rs17728338 polymorphism of the TNIP1 gene (A/G and A/A genotypes), which makes it possible to treat carriers of these genotypes as people with predisposition to the development of psoriasis, and to treat A/C genotypes of rs610604 polymorphism and A/G and A/A genotypes of rs17728338 polymorphism as predictors of the development of psoriasis in the Russian population
Summary
В исследовании участвовали 376 лиц российской популяции (195 мужчин, 181 женщина) в воз-. Критериями исключения являлись: возраст менее 18 лет; отсутствие у пациента диагноза псориаза (даже при наличии диагноза псориатического артрита); нежелание или отсутствие возможности подписать информированное согласие. Материалом для проведения исследований явились образцы цельной крови, полученные от больных. Исследование проводили в несколько этапов: выделение из образца крови геномной ДНК и оценка ее качества; амплификация фрагментов генов TNFAIP3 и TNIPI и аллельспецифическая гибридизация амплифицированных фрагментов генов с соответствующими зондами в формате ПЦР в реальном времени; анализ полученных данных. Выделение ДНК из образцов крови проводили с использованием коммерческого набора реагентов DiatomTM DNA Prep 100 (Biokom, Россия) в соответствии с инструкциями производителя. Попарное сравнение частот генотипов в группах больных и здоровых лиц осуществляли с использованием двустороннего критерия χ2 для таблиц сопряженности 2 × 2. Силу ассоциаций оценивали в значениях показателя отношения шансов оdds ratio (OR), рассчитываемого при помощи калькулятора, находящегося в открытом доступе на сайте библиотеки Meta Numerics (http://www.meta-numerics.net/Samples/ ContingencyCalculator.aspx)
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