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Association between polymorphic markers in candidate genes and the risk of manifestation of endocrine ophthalmopathy in patients with Graves' disease
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01.01.2018 |
Petunina N.
Martirosian N.
Trukhina L.
Saakyan S.
Panteleeva O.
Burdennyy A.
Nosikov V.
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Terapevticheskii Arkhiv |
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0 |
Ссылка
© 2018 Media Sphera Publishing Group.All Rights Reserved. Aim. To analyze the association between the polymorphic markers in CTLA4, TNF, IL10 and IL16 genes and the risk of manifestation of endocrine ophthalmopathy (EO) in patients with Graves' disease (GD). Materials and methods. Case-control study included 248 patients with GD. Using polymerase chain reaction we studied the distribution of alleles and genotypes of polymorphic markers such as A60G (rs3087243) in CTLA4 gene, G(-308)A (rs1800629) in TNF gene, G(-1082)A (rs1800896) in IL10 gene, T3249C (rs4778641) in IL16 gene among 141 patients with Graves' disease and EO and 107 patients with GD without EO. Results and discussion. The frequencies of A alleles and the AA genotypes were significantly increased and the frequencies of G alleles and the GG genotype polymorphic markers rs3087243 of CTLA4 gene and rs1800896 of IL10 gene, as well as the GG genotype polymorphic marker rs1800629 of TNF gene were reduced in patients with GD and EO. The polymorphism in CTLA4 gene was also associated with the activity and the severity of EO. The comparative analysis of the allele and genotype frequency distribution of polymorphic markers of IL16 gene did not show the significant difference. Conclusion. The risk of manifestation and the development of EO in patients with Graves' disease can be caused by not only environmental, but also genetic risk factors.
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Prediction of activity and severity of endocrine ophthalmopathy by multidimensional linear regression modeling
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01.01.2018 |
Lihvantseva V.
Afanasev M.
Rudenko E.
Karaulov A.
Afanasev S.
Korosteleva E.
Vygodin V.
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Vestnik Oftalmologii |
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© 2018 Media Sfera. All rights reserved. Endocrine ophthalmopathy (EOP) is a severe chronic autoimmune disease associated with autoimmune thyroid pathology that leads to loss of sight, cosmetic defects and quality of life decrease. EOP is difficult to give prognosis for due to various factors affecting its course and outcome. Purpose - to develop a reliable and precise prognosis method for EOP activity and severity based on personalized combination of risk factors in specific patients by multidimensional linear regression modeling. Material and methods. A group of 139 patients (278 orbits) with newly diagnosed EOP associated with toxic diffuse goiter was observed during 1 year by an ophthalmologist and an endocrinologist; patient examination interval was 6 months. More than 250 indices were dynamically analyzed in the course of the study. Linear regression analysis was chosen as the research method; it allowed detection of linear dependencies between dependent and explanatory variables. Results. More than 600 various linear regression equations were derived that enabled prediction of EOP onset risk and development timeline, estimation of activity and/or severity of the disease, duration of active period in specific patients for the immediate and long-term outcome. From the derived models, the most reliable and safest for practical application were picked out. The present study introduces nine optimized models that can be used for patient follow-up since day one. Conclusion. The onset risk, progression and outcome of the disease can be determined by a combination of factors revealed in the study.
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