medsovetМедицинский СоветMeditsinskiy sovet = Medical Council2079-701X2658-5790REMEDIUM GROUP Ltd.10.21518/ms2022-029medsovet-7501Research ArticleРЕВМАТОЛОГИЯRHEUMATOLOGYРоль полиморфных маркеров генов WWP2 и GDF5 в прогрессировании гонартроза у населения Центрально-Черноземного региона РоссииThe role of polymorphic markers of the WWP2 and GDF5 gene in the progression of gonarthrosis in the population of the Central Chernozem region of Russiahttps://orcid.org/0000-0001-5337-2156НоваковВ. Б.NovakovV. B.

Новаков Виталий Борисович, аспирант Медицинского института; врач – травматолог-ортопед 

308015, Белгород, ул. Победы, д. 85;308036, Белгород, ул. Губкина, д. 46

Vitaliy B. Novakov, Postgraduate Student of the Medical Institute; Traumatologist-Orthopedist 

85, Pobedy St., Belgorod, 308015;46, Gubkin St., Belgorod, 308036

v.novakov@bk.ruhttps://orcid.org/0000-0003-2700-1284НоваковаО. Н.NovakovaO. N.

Новакова Ольга Николаевна, к.б.н., доцент 

308015, Белгород, ул. Победы, д. 85

Olga N. Novakova, Cand. Sci.  (Biol.), Associate Professor 

85, Pobedy St., Belgorod, 308015

litovkina@bsu.edu.ruhttps://orcid.org/0000-0003-1254-6134ЧурносовМ. И.ChurnosovM. I.

Чурносов Михаил Иванович, д.м.н., профессор, заведующий кафедрой медико-биологических дисциплин 

308015, Белгород, ул. Победы, д. 85

Mikhail I. Churnosov, Dr. Sci. (Med.), Professor, Head of the Department of Biomedical Disciplines 

85, Pobedy St., Belgorod, 308015

churnosov@bsu.edu.ruБелгородский государственный национальный исследовательский университет; Городская больница №2 г. БелгородаРоссияBelgorod National Research University; Belgorod City Hospital No. 2Russian FederationБелгородский государственный национальный исследовательский университетРоссияBelgorod National Research UniversityRussian Federation20230505202306164171Copyright © Новаков В.Б., Новакова О.Н., Чурносов М.И., 20232023Новаков В.Б., Новакова О.Н., Чурносов М.И.Novakov V.B., Novakova O.N., Churnosov M.I.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.med-sovet.pro/jour/article/view/7501

Введение. Остеоартроз  (ОА) является одним из  наиболее распространенных заболеваний опорно-двигательной системы, в развитии и прогрессировании которого важное значение имеют наследственные (генетические) факторы. Цель. Установить роль полиморфизма генов-кандидатов rs1060105 и rs56116847 SBNO1, rs6499244 NFAT5, rs34195470 WWP2, rs143384 GDF5 в прогрессировании ОА коленного сустава у населения Центрально-Черноземного региона России. Материалы и методы. Выборка для исследования, включающая 500 больных ОА коленного сустава, была разделена на две группы: 1-я – пациенты с 3–4-й стадией заболевания по J. Kellgren – J. Lawrence (n = 325), 2-я – со 2-й стадией (n = 175). Исследование проведено в  дизайне «случай  – контроль». Генотипирование образцов ДНК было выполнено с  помощью полимеразной цепной реакции методом TaqMan-зондов. Исследование ассоциаций полиморфных генетических локусов с прогрессированием гонартроза проведено методом логистической регрессии с учетом поправок на возраст, пол, ИМТ. Результаты. Протективную роль в прогрессировании ОА коленного сустава имеет генотип G/G rs34195470 гена WWP2 (OR = 0,62, р  = 0,029), генотип А/G этого  же полиморфизма является фактором риска прогрессирования заболевания  (OR  = 1,65, р = 0,012). В рамках доминантной генетической модели установлены значимые ассоциации с прогрессированием гонартроза для аллеля А rs34195470 гена WWP2 (OR = 1,61, р = 0,039, рperm = 0,049) и аллельного варианта G rs143384 гена GDF5 (OR = 0,59, р = 0,024, рperm = 0,024). Выводы. Генетическими факторами риска развития ОА коленного сустава 3–4-й  рентгенологической стадии являются аллель A и гепотип A/G rs34195470 гена WWP2. Генотипы G/G rs34195470 гена WWP2 и аллель G rs143384 гена GDF5 имеют протективное значение в прогрессировании заболевания у населения Центрального Черноземья России.

Introduction. Osteoarthritis (OA) is one of the most common diseases of the musculoskeletal system, in the development and progression of which hereditary (genetic) factors play an important role. Aim. To establish the  role of  polymorphisms of  candidate genes rs1060105  and rs56116847  SBNO1, rs6499244  NFAT5, rs34195470 WWP2, rs143384 GDF5 in the progression of knee OA in the population of the Central Chernozem region of Russia. Materials and methods. The sample for the study, including 500 patients with knee OA, was divided into two groups: group 1 – patients with stages 3–4 of the disease according to J. Kellgren – J. Lawrence (n = 325), group 2 – patients with stage 2 (n = 175). The study was carried out in a case-control design. Genotyping of DNA samples was performed using the polymerase chain reaction method of TaqMan probes. The study of associations of polymorphic genetic loci with the progression of gonarthrosis was carried out by the method of logistic regression, taking into account the corrections – age, sex, BMI.Results. The G/G genotype rs34195470 of the WWP2 gene (OR = 0.62, p = 0.029) has a protective role in the progression of the knee OA, the A/G genotype of the same polymorphism is a risk factor for disease progression (OR = 1.65, p = 0.012). Within the framework of the dominant genetic model, significant associations with the progression of gonarthrosis were established for the allele A rs34195470 of the WWP2 gene (OR = 1.61, p = 0.039, pperm = 0.049) and the allele variant G rs143384 of the GDF 5 gene (OR = 0.59, p = 0.024, pperm = 0.024).Conclusion. Genetic risk factors for the development of OA of the knee joint of 3–4 radiographic stages are the allele A and the  hepotype A/G rs34195470  of the  WWP2  gene. The genotype G/G rs34195470  of the  WWP2  gene and the  allele G rs143384 of the GDF5 gene are of protective importance in the progression of the disease in the population of the Central Chernozem Region of the Russian Federation.

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The authors declare that there are no conflicts of interest present.