Genetska analiza bolnikov z revmatoidnim artritisom za polimorfizme SNP v genih za vnetne citokine

Keršič, Pia

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Title:	Genetska analiza bolnikov z revmatoidnim artritisom za polimorfizme SNP v genih za vnetne citokine
Authors:	ID Keršič, Pia (Author) ID Potočnik, Uroš (Mentor) More about this mentor... ID Pahor, Artur (Comentor)
Files:	UN_Kersic_Pia_2018.pdf (1,80 MB) MD5: 69856E84A2B3877E4606BF853FC34B7D PID: 20.500.12556/dkum/3c4d525b-edcf-4fa9-b00f-d5b50d489bcb
Language:	Slovenian
Work type:	Bachelor thesis/paper
Typology:	2.11 - Undergraduate Thesis
Organization:	FKKT - Faculty of Chemistry and Chemical Engineering
Abstract:	Revmatoidni artritis (v nadaljevanju RA) je napredujoče kronično vnetno revmatično obolenje, ki lahko prizadene številna tkiva in organe, predvsem pa prizadene sklepe, v začetku predvsem manjše prstne sklepe rok ter nog. RA je kompleksna bolezen, torej na njen nastanek in progresijo vplivata tako okolje kot tudi genetska predispozicija, ki predstavlja 50 do 60% dovzetnosti za nastanek obolenja. Natančen sprožilec bolezni do sedaj še ni znan. Različne študije so skozi leta ugotovile povezavo med RA ter več kot 100 lokusi na genomu. K temu so pripomogle predvsem asociacijske študije celotnega genoma (GWA študije). Le- te temeljijo na primerjavi frekvence polimorfizmov celotnega genoma med bolniki ter zdravimi posamezniki. Študije so z RA med drugimi povezale tudi tri polimorfizme posameznega nukleotida (SNP), rs2228145 v genu IL6R, rs706778 v genu IL2RA ter rs11574914 v genu CCL12 . V diplomski nalogi smo ugotavljali povezavo teh treh SNP-jev z RA pri slovenski populaciji. Za tri izbrane polimorfizme SNP smo opravili genotipizacijo pri 208 zdravih posameznikih ter pri 276 bolnikih diagnosticiranih z RA. Pri tem smo uporabili metodo analize talilne krivulje visoke ločljivosti (HRM) ter metodo verižne reakcije s polimerazo (PCR), ki ji je sledila metoda polimorfizmov dolžin restrikcijskih fragmentov (PCR-RFLP). Ugotovili smo statistično značilno povezavo med SNP-jema rs2228145 (IL6R) in rs11574914 (CCL21) in nastankom RA v slovenski popuaciji. Pri bolnikih je bila frekvenca alela C SNP-ja rs2228145 na genu IL6R višja v primerjavi z zdravimi posamezniki (p = 0,002). Nadalje je bila frekvenca alela T ter frekvenca genotipa TT SNP-ja rs11574914 na genu CCL21 znatno povišana pri bolnikih z RA glede na kontrolno skupino (p= 1,0*10-4 ). Rezultati diplomskega dela nakazujejo na pomembno vlogo polimorfizmov v genih, ki kodirajo vnetne citokine, na nastanek RA v slovenski populaciji.
Keywords:	revmatoidni artritis, SNP, vnetni citokini, asociacijska analiza
Place of publishing:	Maribor
Publisher:	[P. Keršič]
Year of publishing:	2018
PID:	20.500.12556/DKUM-67624
UDC:	57.088.6:616.72-002(043.2)
COBISS.SI-ID:	21415702
NUK URN:	URN:SI:UM:DK:U06MJQQW
Publication date in DKUM:	26.04.2018
Views:	1919
Downloads:	164
Metadata:
Categories:	KTFMB - FKKT
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Licences

License:	CC BY-NC-ND 4.0, Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International

Link:	http://creativecommons.org/licenses/by-nc-nd/4.0/
Description:	The most restrictive Creative Commons license. This only allows people to download and share the work for no commercial gain and for no other purposes.
Licensing start date:	24.08.2017

Secondary language

Language:	English
Title:	Genetic analysis of rheumatoid arthritis patients for polymorphisms SNPs in inflammatory cytokine genes
Abstract:	Rheumatoid arthritis (RA) is a chronic inflammatory rheumatic disease. It is an inflammatory disease which can affect many organs and tissues, but it mostly affects the joints, at first the little joints in fingers and legs. RA is a complex disease, which means both the genetic predisposition which accounts for 50 to 60% and the environment affect the progression and manifestation of RA. An exact trigger for the disease has yet to be found. Over the years, many studies have found a correlation between RA and more than 100 loci on the genome. A lot of associations were discovered in genome-wide association studies (GWA). These studies compare frequencies of the gene responsible for the disease, in patients and in healthy individuals. In GWA studies, more than a thousand different polymorphisms are studied. GWA studies have also found a strong statistically significant association between three single nucleotide polymorphisms (SNPs) in genes coding for inflammatory cytokines. These SNPs are located on genes IL6R (rs2228145), IL2RA (rs706778) and CCL21 (rs11574914), respectively. In the present thesis, we tested an association between selected SNPs and RA in Slovenian population. Genotyping has been performed for 276 patients and 208 healthy controls using high-resolution melting (HRM) and polymerase chain reaction (PRC) followed by restriction fragment lenght polymorphism (RFLP). We have found a statistically significant association between RA and SNPs rs2228145 (IL6R) and rs11574914 (CCL21). Frequency of allele C for SNP rs2228145 on gene IL6R was increases in patients with RA compared to the healthy controls (p=0,002). Along with those findings we also discovered a highly increased frequency of allele T and an increased frequency of genotype TT in RA patients as compared to the control group for SNP rs11574914 (CCL21) (p= 1,0*10-4) The results of this thesis indicate that polymorphisms in genes coding for inflammatory citokines have an important role in the occurance and the progression of RA in Slovenian population.
Keywords:	rheumatoid arthritis, SNP, inflammaroty cytokines, association analysis

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