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Vpliv polimorfizmov v genu CCL2 na težo alergijske reakcije po pikih kožekrilcev
Furjan, Tina (Author), Rijavec, Matija (Mentor) More about this mentor... This link opens in a new window, Eržen, Renato (Co-mentor)

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Abstract
Anafilaksija je sistemska, življenje ogrožajoča alergijska reakcija, ki v zelo kratkem času lahko prizadene različne organe. Med najpogostejše povzročitelje prištevamo hrano, strupe žuželk, zdravila in lateks. Bolezen je posledica degranulacije glavnih efektorskih celic anafilaksije, to so mastociti in bazofilci. Ob stiku z ustreznim alergenom efektorske celice sprostijo vnetne imunske mediatorje, kot so triptaza, histamin in serotonin. Ti mediatorji povzročijo različne klinične znake kot so povečana prepustnost žilja, oteklina mehkih tkiv, hipotenzija, srbečica, slabost in druge. Glede na klinične znake anafilaksijo lahko razdelimo v štiri razrede po Muellerju. Genetsko ozadje naj bi imelo pri pojavnosti anafilaksije veliko vlogo, vendar gen ali geni, odgovorni za to, še niso znani. V raziskavi smo analizirali, ali ima polimorfizem rs1024611 v genu CCL2 vpliv na nastanek in težo alergijske reakcije. Iz krvi 1462 bolnikov z različno težo reakcije in 201 zdrave osebe smo izolirali DNA, nato pa z metodo PCR v realnem času preverjali genotip polimorfizma rs1024611. Rezultati raziskave niso potrdili hipoteze, da polimorfizem v genu CCL2 vpliva na težo reakcije po pikih kožekrilcev ter da so posledično ljudje z določenim genotipom CCL2 bolj dovzetni za nastanek anafilaksije. Opazili smo trend, da genotip GG polimorfizma rs1024611 gena CCL2 vpliva na višjo bazalno koncentracijo kemokina CCL2 v serumu, vendar zaradi majhnega števila oseb z omenjenim genotipom in hkrati določeno bazalno koncentracijo kemokina CCL2 ta ni statistično značilen.

Language:Slovenian
Keywords:genetika, anafilaksija, RT-qPCR, citokin, CCL2, kožekrilci
Work type:Master's thesis/paper (mb22)
Tipology:2.09 - Master's Thesis
Organization:BF - Biotechnical Faculty
Year:2021
Publisher:[T. Furjan]
UDC:601.4:577.212.3:591.15:57.083.32(043.2)
COBISS.SI-ID:59446787 This link opens in a new window
Views:156
Downloads:42
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Secondary language

Language:English
Title:Influence of polymorphism in gene CCL2 on anaphylactic reaction severity after hymenoptera stings
Abstract:
Anaphylaxis is a systemic, life-threatening allergic reaction that can affect various organs in a short time. The most common cause include food, insect toxins, drugs, and latex. The disease results from degranulation of the main effector cells of anaphylaxis, i.e. mast cells and basophils. Upon contact with the appropriate allergen, effector cells release inflammatory immune mediators such as tryptase, histamine, and serotonin. These mediators cause various clinical signs such as increased vascular permeability, soft tissue swelling, hypotension, itching, nausea, etc. According to clinical signs, anaphylaxis can be divided into four classes, according to Mueller's classification. The genetic background is thought to have a big impact on the occurrence of anaphylaxis, but the gene or genes responsible for this are not yet known. The study analyzed whether the rs1024611 polymorphism in the CCL2 gene influences the development and severity of anaphylaxis. DNA was isolated from the blood of 1462 patients with diagnosed hypersensitivity to Hymenoptera venom, with different reaction severities s and 201 healthy individuals, and then the genotype of the rs1024611 polymorphism was determined by real-time PCR. The study results did not support the hypothesis that the polymorphism in the CCL2 gene affects the reaction severity and that, consequently, people with a certain genotype are more susceptible to anaphylaxis. We observed a trend that the GG genotype of the rs1024611 polymorphism in the CCL2 gene affects a higher basal serum concentration of the chemokine CCL2, but due to the small number of individuals with this genotype and measured basal concentration of the chemokine CCL2 is not statistically significant.

Keywords:genetics, anaphylaxis, RT-qPCR, cytokine, CCL2, hymenoptera

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