Vpliv genetskih dejavnikov na dovzetnost in resnost poteka COVID-19

Povše, Ana (author), Ostanek, Barbara (mentor)

Ozadje: Pojav pandemije koronavirusne bolezni 2019 je v svet prinesel negotovost zaradi nepoznavanja virusa, ki to bolezen povzroča. Ključno je, da koronavirus, ki povzroča sindrom akutnega oteženega dihanja, čim bolj spoznamo, odkrijemo rizične skupine in kriterije, ki posameznike uvrstijo med bolj ogrožene, ter s čim več informacijami poskušamo omejiti nastalo krizo. Namen: V izbranih podatkovnih bazah bomo naredili sistematični pregled objavljenih študij in poiskali informacije o morebitni povezavi med genetskimi dejavniki gostitelja ter dovzetnostjo za bolezen in njeno resnostjo. Metode: Z vnaprej določenimi iskalnimi nizi smo v podatkovnih bazah PubMed in ScienceDirect poiskali članke, ki se nanašajo na vpliv genetskih dejavnikov gostitelja na možnost za okužbo in potek koronavirusne bolezni 2019. Vključili smo raziskovalne članke v angleškem jeziku, objavljene do vključno januarja 2022, v katerih so si za preiskovano populacijo izbrali človeka. Rezultati: Z uporabljenimi iskalnimi nizi smo uspeli identificirati 20 za nas relevantnih študij, v katerih so proučevali različne skupine genov, in sicer tiste, ki vplivajo na vstop virusa v celico, tiste, ki vplivajo na imunski odziv gostitelja, gene, ki ne sodijo v nobeno od teh kategorij, v enem članku pa je bil uporabljen tudi vsegenomski pristop, v katerem je bilo odkritih 8 za novo koronavirusno bolezen pomembnih genov. S pregledom literature smo odkrili 3 gene in njihove polimorfizme, ki vplivajo na večjo dovzetnost za okužbo z novim koronavirusom (ACE2, ACE in HLA), 17 genov in njihovih polimorfizmov, ki imajo vpliv na slabši potek bolezni (ACE2, ACE, IFITM3, GSTM1, HLA, VDR, GC, NADSYN1, LZTFL1, VWA8, PDE8B, CTSC, THSD7B, STK39, FBX034, RPL6P27 in METTL21C) in 3 gene z njihovimi polimorfizmi, ki imajo zaščitno vlogo pri infekciji z novim koronavirusom (HLA, AR in VDR). Dosedanje študije kažejo na pomen genetskih dejavnikov, vendar jih bo potrebno v prihodnosti podrobneje raziskati na večjih skupinah preiskovancev.

• Language: Slovenian
• Keywords: SARS-CoV-2, COVID-19, gostiteljevi genetski dejavniki, dovzetnost za bolezen, resnost bolezni
• Work type: Master's thesis/paper
• Organization: FFA - Faculty of Pharmacy
• Year: 2022
• PID: 20.500.12556/RUL-137651
• Publication date in RUL: 24.06.2022

Secondary language

• Language: English
• Title: Genetic polymorphisms associated with COVID-19 susceptibility and severity

Abstract

Background: The outbreak of the coronavirus disease 2019 pandemic has brought uncertainty to the world due to lack of knowledge about the virus causing this disease. It is crucial that we get to know severe acute respiratory syndrome coronavirus as much as possible, discover risk groups and criteria that make them more endangered and try to limit the crisis with as much information as possible. Objective: The aim of our study is to make a systematic review of published studies in selected databases and seek information on the possible link between genetic factors of the host and susceptibility to the disease and its severity. Methods: PubMed and ScienceDirect databases were searched using predefined search sets for articles about the influence of host genetics factors on the possibility of infection and the course of the coronavirus disease 2019. Research articles published in English up to and including January 2022 were included, in which the study population were humans. Results: With defined search sets, 20 relevant studies that examined different groups of genes were identified, namely those that affect the entry of the virus into the cell, those that affect the immune response of the host, genes that do not belong to any of these categories, and one article in which they also used an all-genomic approach. They identified 8 genes relevant to the new coronavirus disease. The selected studies were then assigned the proposed quality assessment of the research using the tool for assessing the quality of genetic studies. A review of the literature revealed 3 genes and their polymorphisms that increase susceptibility to new coronavirus infection (ACE2, ACE and HLA), 17 genes and their polymorphisms that have an impact on the worse course of the disease (ACE2, ACE, IFITM3, GSTM1, HLA, VDR, GC, NADSYN1, LZTFL1, VWA8, PDE8B, CTSC, THSD7B, STK39, FBX034, RPL6P27 and METTL21C) and 3 genes with their polymorphisms that play a protective role in infection with the new coronavirus (HLA, AR and VDR). Current studies indicate the importance of genetic factors but they need to be investigated in more detail in the future on larger groups of subjects.

• Keywords: SARS-CoV-2, COVID-19, host genetic factors, susceptibility to disease, severity of disease