The clinical role of blood coagulation and platelet receptors gene allelic variants in development of Wilson’s disease
Aim of investigation. To estimate the effect of carriage of various allelic variants of blood coagulation system and platelet receptors genes on Wilson’s disease (WD) clinical presentation features. Material and methods. Original study included 85 patients with a Wilson’s disease who were divided in...
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| Language: | Russian |
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Gastro LLC
2018-08-01
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| Series: | Российский журнал гастроэнтерологии, гепатологии, колопроктологии |
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| Online Access: | https://www.gastro-j.ru/jour/article/view/229 |
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| author | T. P. Rozina S. V. Fastovets E. E. Starostina L. M. Samokhodskaya T. N. Krasnova |
| author_facet | T. P. Rozina S. V. Fastovets E. E. Starostina L. M. Samokhodskaya T. N. Krasnova |
| author_sort | T. P. Rozina |
| collection | DOAJ |
| description | Aim of investigation. To estimate the effect of carriage of various allelic variants of blood coagulation system and platelet receptors genes on Wilson’s disease (WD) clinical presentation features. Material and methods. Original study included 85 patients with a Wilson’s disease who were divided into two groups: without neurological symptoms (abdominal form; n=51) and with neurologic symptomatology (mixed form; n=34). Genetic polymorphism testing was carried out by real-time polymerase chain reaction with melting curve analysis. Results. Alleles A of hemostasis genes FII 20210 G/A, FV 1691G/A were more frequent in the group with neurologic symptomatology as compared to the group of patients with abdominal form of WD at the level of trend. Frequency of 5G allele of plasminogen activator inhibitor gene PAI-675 5G/4G in the group with neurologic symptoms was lower (41.17%), than in the group without symptoms of central nervous system (CNS) involvement (49.02%) (odds ratio - OR: 1.374; 95% confidence interval - CI: 0.739-2.553). In the group of patients with neurological symptoms 4G4G genotype of PAI-675 5G/4G gene was more common (47.06%), than in patients without those symptoms (23.53%) (OR: 2.889; 95%-CI: 1.135-7.350). The allele T of platelet receptor gene ITGA2 807 C/T was more common in patients with CNS involvement than in the group of patients without neurological symptoms (р =0.018; OR: 2.172. 95%-CI: 1.163-4.058). Integrated genotype CT+TT was significantly more common in patients with neurological symptoms (82.35%) as compared to patients without those (54.90%) (р =0.010; OR: 3,833; 95%-CI: 1.355-10.846). Conclusion. Carriage of mutant genotypes FII 20210 G/A, FV 1691G/A, PAI-675 5G/4G, ITGA2 807 C/T is the factor associated to the presence of neurological symptoms at Wilson's disease. |
| format | Article |
| id | doaj-art-dba1d8d02b154fe39d7f36d66759592c |
| institution | Kabale University |
| issn | 1382-4376 2658-6673 |
| language | Russian |
| publishDate | 2018-08-01 |
| publisher | Gastro LLC |
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| series | Российский журнал гастроэнтерологии, гепатологии, колопроктологии |
| spelling | doaj-art-dba1d8d02b154fe39d7f36d66759592c2025-02-10T16:14:29ZrusGastro LLCРоссийский журнал гастроэнтерологии, гепатологии, колопроктологии1382-43762658-66732018-08-01282505510.22416/1382-4376-2018-28-2-50-55229The clinical role of blood coagulation and platelet receptors gene allelic variants in development of Wilson’s diseaseT. P. Rozina0S. V. Fastovets1E. E. Starostina2L. M. Samokhodskaya3T. N. Krasnova4ГБОУ ВО «Московский государственный университет им. М.В. Ломоносова»; ФГАОУ ВО «Первый Московский государственный медицинский университет им. И.М. Сеченова» (Сеченовский университет)ГБОУ ВО «Московский государственный университет им. М.В. Ломоносова»ГБОУ ВО «Московский государственный университет им. М.В. Ломоносова»ГБОУ ВО «Московский государственный университет им. М.В. Ломоносова»ГБОУ ВО «Московский государственный университет им. М.В. Ломоносова»Aim of investigation. To estimate the effect of carriage of various allelic variants of blood coagulation system and platelet receptors genes on Wilson’s disease (WD) clinical presentation features. Material and methods. Original study included 85 patients with a Wilson’s disease who were divided into two groups: without neurological symptoms (abdominal form; n=51) and with neurologic symptomatology (mixed form; n=34). Genetic polymorphism testing was carried out by real-time polymerase chain reaction with melting curve analysis. Results. Alleles A of hemostasis genes FII 20210 G/A, FV 1691G/A were more frequent in the group with neurologic symptomatology as compared to the group of patients with abdominal form of WD at the level of trend. Frequency of 5G allele of plasminogen activator inhibitor gene PAI-675 5G/4G in the group with neurologic symptoms was lower (41.17%), than in the group without symptoms of central nervous system (CNS) involvement (49.02%) (odds ratio - OR: 1.374; 95% confidence interval - CI: 0.739-2.553). In the group of patients with neurological symptoms 4G4G genotype of PAI-675 5G/4G gene was more common (47.06%), than in patients without those symptoms (23.53%) (OR: 2.889; 95%-CI: 1.135-7.350). The allele T of platelet receptor gene ITGA2 807 C/T was more common in patients with CNS involvement than in the group of patients without neurological symptoms (р =0.018; OR: 2.172. 95%-CI: 1.163-4.058). Integrated genotype CT+TT was significantly more common in patients with neurological symptoms (82.35%) as compared to patients without those (54.90%) (р =0.010; OR: 3,833; 95%-CI: 1.355-10.846). Conclusion. Carriage of mutant genotypes FII 20210 G/A, FV 1691G/A, PAI-675 5G/4G, ITGA2 807 C/T is the factor associated to the presence of neurological symptoms at Wilson's disease.https://www.gastro-j.ru/jour/article/view/229болезнь вильсона-коноваловаполиморфизм геновтромбофилиягемостазтромбоцитарные рецепторы |
| spellingShingle | T. P. Rozina S. V. Fastovets E. E. Starostina L. M. Samokhodskaya T. N. Krasnova The clinical role of blood coagulation and platelet receptors gene allelic variants in development of Wilson’s disease Российский журнал гастроэнтерологии, гепатологии, колопроктологии болезнь вильсона-коновалова полиморфизм генов тромбофилия гемостаз тромбоцитарные рецепторы |
| title | The clinical role of blood coagulation and platelet receptors gene allelic variants in development of Wilson’s disease |
| title_full | The clinical role of blood coagulation and platelet receptors gene allelic variants in development of Wilson’s disease |
| title_fullStr | The clinical role of blood coagulation and platelet receptors gene allelic variants in development of Wilson’s disease |
| title_full_unstemmed | The clinical role of blood coagulation and platelet receptors gene allelic variants in development of Wilson’s disease |
| title_short | The clinical role of blood coagulation and platelet receptors gene allelic variants in development of Wilson’s disease |
| title_sort | clinical role of blood coagulation and platelet receptors gene allelic variants in development of wilson s disease |
| topic | болезнь вильсона-коновалова полиморфизм генов тромбофилия гемостаз тромбоцитарные рецепторы |
| url | https://www.gastro-j.ru/jour/article/view/229 |
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