Dawid Wojciulik, Agnieszka Joanna Wasilewska-Chrzanowska, Karol Adam Kamiński, Anna Moniuszko-Malinowska
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Multiple variants of genes encoding proteins involved in host cell invasion by SARS-CoV-2 virus have been identified: ACE2 i TMPRSS2, TMPRSS11A (HGNC:27954), ELANE (HGNC:3309) oraz CTSL (HGNC:2537), IL-6 rs1800795 variant associated with an increased risk of COVID-19, variant rs35705950:G>T located in the promoter of the MUC5B gene (11p15.5), encoding a protein that plays a key role in maintaining the proper function of the bronchoalveolar epithelium, having a protective effect against the form of the disease requiring hospitalization of the patient, as well as GC rs2282679 gene variant in the vitamin D binding protein associated with a more severe course of COVID-19. 48 of these variants were proved to be directly specific for some populations. Novel techniques of genome analysis enabled the research of the impact of specific polymorphism variants on the severity of various diseases including, COVID-19. Genetic factors analysis can permit understanding of disease pathogenesis, which is a chance to find effective treatment and prevention methods. Collected data from literature indicate that, in the case of COVID-19 disease, there are genes polymorphisms which affect the severity course.</p>","PeriodicalId":20777,"journal":{"name":"Przeglad epidemiologiczny","volume":"78 3","pages":"333-344"},"PeriodicalIF":0.0000,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The impact of genetic polymorphism on course and severity of the SARS-CoV-2 infection and COVID-19 disease.\",\"authors\":\"Dawid Wojciulik, Agnieszka Joanna Wasilewska-Chrzanowska, Karol Adam Kamiński, Anna Moniuszko-Malinowska\",\"doi\":\"10.32394/pe/194862\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>COVID-19 is severe respiratory and systemic disease with complex pathogenesis and many clinical symptoms, including symptoms from respiratory system, immunology system, cardio-vascular system, haematopoietic system and neurological system. Severe character of the disease is associated with occurrence of respiratory failure, septic shock, multiple organ dysfunctions syndrome, which can lead to patients death due to cardiac arrest. Knowledge about interactions between the virus and human proteins as well as knowledge of immunological mechanisms against infection is a key to identifying the area of virus activity and severity factors of COVID-19. 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Genetic factors analysis can permit understanding of disease pathogenesis, which is a chance to find effective treatment and prevention methods. Collected data from literature indicate that, in the case of COVID-19 disease, there are genes polymorphisms which affect the severity course.</p>\",\"PeriodicalId\":20777,\"journal\":{\"name\":\"Przeglad epidemiologiczny\",\"volume\":\"78 3\",\"pages\":\"333-344\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-12-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Przeglad epidemiologiczny\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.32394/pe/194862\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/10/31 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Przeglad epidemiologiczny","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.32394/pe/194862","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/10/31 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
摘要
COVID-19是一种严重的呼吸系统和全身性疾病,发病机制复杂,临床症状多,包括呼吸系统、免疫系统、心血管系统、造血系统和神经系统的症状。病情严重者可发生呼吸衰竭、感染性休克、多器官功能障碍综合征,可导致患者因心脏骤停而死亡。了解病毒与人类蛋白质之间的相互作用以及了解抗感染的免疫机制是确定病毒活性区域和COVID-19严重程度因素的关键。已经确定了参与SARS-CoV-2病毒侵袭宿主细胞的编码蛋白的多种基因变体:ACE2 i TMPRSS2, TMPRSS11A (HGNC:27954), ELANE (HGNC:3309) oraz CTSL (HGNC:2537), IL-6 rs1800795变异与COVID-19风险增加相关,变异rs35705950:G>T位于MUC5B基因(11p15.5)的启动子中,编码一种在维持支气管肺泡上皮正常功能中起关键作用的蛋白,对患者需要住院治疗的疾病形式具有保护作用。以及与COVID-19更严重病程相关的维生素D结合蛋白中的GC rs2282679基因变异。这些变异中有48个被证明是直接针对某些人群的。新的基因组分析技术使研究特定多态性变异对包括COVID-19在内的各种疾病严重程度的影响成为可能。遗传因素分析可以使人们了解疾病的发病机制,从而有机会找到有效的治疗和预防方法。从文献中收集的数据表明,在COVID-19疾病中,存在影响病情严重程度的基因多态性。
The impact of genetic polymorphism on course and severity of the SARS-CoV-2 infection and COVID-19 disease.
COVID-19 is severe respiratory and systemic disease with complex pathogenesis and many clinical symptoms, including symptoms from respiratory system, immunology system, cardio-vascular system, haematopoietic system and neurological system. Severe character of the disease is associated with occurrence of respiratory failure, septic shock, multiple organ dysfunctions syndrome, which can lead to patients death due to cardiac arrest. Knowledge about interactions between the virus and human proteins as well as knowledge of immunological mechanisms against infection is a key to identifying the area of virus activity and severity factors of COVID-19. Multiple variants of genes encoding proteins involved in host cell invasion by SARS-CoV-2 virus have been identified: ACE2 i TMPRSS2, TMPRSS11A (HGNC:27954), ELANE (HGNC:3309) oraz CTSL (HGNC:2537), IL-6 rs1800795 variant associated with an increased risk of COVID-19, variant rs35705950:G>T located in the promoter of the MUC5B gene (11p15.5), encoding a protein that plays a key role in maintaining the proper function of the bronchoalveolar epithelium, having a protective effect against the form of the disease requiring hospitalization of the patient, as well as GC rs2282679 gene variant in the vitamin D binding protein associated with a more severe course of COVID-19. 48 of these variants were proved to be directly specific for some populations. Novel techniques of genome analysis enabled the research of the impact of specific polymorphism variants on the severity of various diseases including, COVID-19. Genetic factors analysis can permit understanding of disease pathogenesis, which is a chance to find effective treatment and prevention methods. Collected data from literature indicate that, in the case of COVID-19 disease, there are genes polymorphisms which affect the severity course.