ZNF350 gene variants and their association with uveal melanoma risk
https://doi.org/10.25557/2073-7998.2023.09.34-39
Abstract
Aim: to investigate the association of ZNF350 (rs2278420, rs2278415, rs4986773) gene polymorphisms with the risk of uveal melanoma development.
Methods. The study involved 226 volunteers who signed an informed consent, including 65 patients with UM and choroidal nevi (study group). According to the results of the clinical and instrumental examination, all patients were divided into two groups – a study group (patients with uveal melanoma and progressive choroidal nevus, n=42) and a risk group (patients with benign choroidal nevus, n=23). The control group (n=61) included individuals without intraocular neoplasms. The population group included Russian individuals (according to the survey data) randomly selected in Moscow. Genotyping for the ZNF350 rs2278415, rs2278420, and rs4986773 gene polymorphisms was carried out by PCR followed by DNA restriction.
Results. Comparing the allele and genotype frequencies for the ZNF350 rs2278415 and rs4986773 gene polymorphisms, no statistically significant differences were found between the studied groups. In the control group, the genotype AA and allele A for the ZNF350 rs2278420 gene polymorphism were determined significantly less frequently than in the study, risk, and population groups.
Conclusion. Our study has revealed, the AA genotype and A allele at the polymorphic locus rs2278420 of the ZNF350 gene are associated with UM, progressive, and benign choroidal nevi. Additionally, the higher frequencies of the genotype and allele found in the population sample may be related to the «random sampling» effect and insufficient information of their tumor family history.
Supporting agencies: Extra-budgetary funds of Russian Peoples` Friendship University.
About the Authors
L. Mukhana
Russian Peoples` Friendship University named after Patrice Lumumba
Russian Federation
Russian Federation
8, Miklukho-Maklaya st, Moscow, 117198
Aissa A. Ait
Russian Peoples` Friendship University named after Patrice Lumumba
Russian Federation
Russian Federation
8, Miklukho-Maklaya st, Moscow, 117198
A. A.M. Ahmed
Russian Peoples` Friendship University named after Patrice Lumumba
Russian Federation
Russian Federation
8, Miklukho-Maklaya st, Moscow, 117198
S. V. Saakyan
Helmholtz National Medical Research center of Eye diseases; A. I. Evdokimov Moscow State University of medicine and dentistry
Russian Federation
Russian Federation
14/19, Sadovaya-Chernogryazskaya st., Moscow, 105062
20/1, Delegatskaya st., Moscow, 127473
A. Iu. Tsygankov
Helmholtz National Medical Research center of Eye diseases; A. I. Evdokimov Moscow State University of medicine and dentistry
Russian Federation
Russian Federation
14/19, Sadovaya-Chernogryazskaya st., Moscow, 105062
20/1, Delegatskaya st., Moscow, 127473
M. M. Azova
Russian Peoples` Friendship University named after Patrice Lumumba
Russian Federation
Russian Federation
8, Miklukho-Maklaya st, Moscow, 117198
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Review
For citations:
Mukhana L., Ait A.A., Ahmed A.A., Saakyan S.V., Tsygankov A.I., Azova M.M. ZNF350 gene variants and their association with uveal melanoma risk. Medical Genetics. 2023;22(9):34-39. (In Russ.) https://doi.org/10.25557/2073-7998.2023.09.34-39
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