Association between polymorphic markers in candidate genes and the risk of manifestationof endocrine ophthalmopathy in patients with Graves' disease

• Published in: Terapevtic̆eskii arhiv Vol. 90; no. 10; pp. 35 - 39
• Main Authors: Petunina, N A, Martirosian, N S, Trukhina, L V, Saakyan, S V, Panteleeva, O G, Burdennyy, A M, Nosikov, V V
• Format: Journal Article
• Language: English; Russian
• Published: Russia (Federation) "Consilium Medicum" Publishing house 22.11.2018
• Subjects: Alleles; Case-Control Studies; endocrine ophthalmopathy; Gene Frequency; Genetic Markers; Genetic Predisposition to Disease; Genotype; Graves Disease - complications; Graves Disease - genetics; Graves Ophthalmopathy - genetics; graves’ disease; Humans; polymorphic genetic markers; Polymorphism, Single Nucleotide; polymorphic genetic markers; Graves’ disease; endocrine ophthalmopathy
• ISSN: 0040-3660; 2309-5342
• DOI: 10.26442/terarkh201890104-39

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). 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. 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. 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.