| | SLO | ENG | Cookies and privacy

Bigger font | Smaller font
First page > Show document

Show document Help

Title:Genetska analiza kandidatnega področja na kromosomu 1 pri slovenskih bolnikih z revmatoidnim artritisom
Authors:ID Rovšnik, Urška (Author)
ID Potočnik, Uroš (Mentor) More about this mentor... New window
ID Pahor, Artur (Comentor)
Files:.pdf UN_Rovsnik_Urska_2015.pdf (2,10 MB)
MD5: 8808F4AAE7B2A83EB9DB0D57A0F4541B
 
Language:Slovenian
Work type:Bachelor thesis/paper
Typology:2.11 - Undergraduate Thesis
Organization:FKKT - Faculty of Chemistry and Chemical Engineering
Abstract:Revmatoidni artritis (RA) je kronična vnetna bolezen, za katero zboli približno en odstotek prebivalstva. Ta bolezen prizadene vse sklepe in tudi obsklepne dele, in to predvsem sklepe, ki vsebujejo sklepno tekočino. Tipična je prizadetost majhnih sklepov rok in nog, navadno simetrično na obeh straneh. Je avtoimunska, kompleksna bolezen, kot posledica kombinacije genetskih faktorjev in faktorjev okolja. Genetski faktorji predstavljajo 50 do 60 % dovzetnosti za bolezen. Sprožilec bolezni pa je za zdaj še neznan. Asociacijske študije celotnega genoma (GWA) so z RA povezale že več kot 100 lokusov na genomu. Študije GWA temeljijo na primerjavi frekvence bolezenskega alela med kontrolnimi vzorci zdravih oseb in bolniki, pri čemer genotipiziramo tisoče polimorfizmov posameznega nukleotida (SNP) v celotnem genomu. Študije GWA so pokazale, da so SNP-ji na treh neodvisnih lokusih na kromosomu 1 (1p36, 1q24 in 1p34) močno povezani z RA pri osebah, z azijskimi in afriškimi koreninami. To so SNP-ji v genih PADI4 (rs2301888), CD247 (rs864537) in MTF1 (rs28411352). V diplomski nalogi smo ugotavljali povezavo med izbranimi lokusi na kromosomu 1 in slovenskimi bolniki z RA. Izbrane SNP-je smo genotipizirali pri 276 bolnikih z RA in 276 zdravih posameznikih in to z metodo analize talilne krivulje visoke ločljivosti (HRM) in z metodo verižne reakcije s polimerazo, ki ji je sledila metoda polimorfizmov dolžin restrikcijskih fragmentov (PCR-RFLP). Ugotovili smo signifikantno značilno povezavo med bolniki z RA in SNP-jem rs28411352 v genu MTF1. Pri bolnikih z RA je bila frekvenca alela C v primerjavi s kontrolno skupino znatno višja (0,833, 0,767, p = 0,014). Za SNP rs864537 v genu CD247 signifikantne povezave nismo ugotovili. Za SNP rs2301888 v genu PADI4 pa smo pri bolnikih z RA opazili višjo frekvenco alela T in genotipa TT kot pri kontrolni skupini, vendar statistične signifikance nismo dosegli.
Keywords:revmatoidni artritis, kromosom 1, asociacijska analiza, SNP
Place of publishing:Maribor
Publisher:[U. Rovšnik]
Year of publishing:2015
PID:20.500.12556/DKUM-54145 New window
UDC:575.113:616.72-002.77(043.2)
COBISS.SI-ID:19426582 New window
NUK URN:URN:SI:UM:DK:IFSEHIMT
Publication date in DKUM:29.10.2015
Views:1791
Downloads:129
Metadata:XML DC-XML DC-RDF
Categories:KTFMB - FKKT
:
ROVŠNIK, Urška, 2015, Genetska analiza kandidatnega področja na kromosomu 1 pri slovenskih bolnikih z revmatoidnim artritisom [online]. Bachelor’s thesis. Maribor : U. Rovšnik. [Accessed 26 April 2025]. Retrieved from: https://dk.um.si/IzpisGradiva.php?lang=eng&id=54145
Copy citation
  
Average score:
0.5
1
1.5
2
2.5
3
3.5
4
4.5
5
(0 votes)
Your score:Voting is allowed only for logged in users.
Share:Bookmark and Share


Searching for similar works...Please wait....
Hover the mouse pointer over a document title to show the abstract or click on the title to get all document metadata.

Secondary language

Language:English
Title:Genetic analysis of candidate area on chromosome 1 in slovenian patients with rheumatoid arthritis
Abstract:Rheumatoid arthritis (RA) is chronical inflammatory disease that affects approximately 1 % of population. It affects mostly joints with synovial fluid. Tipically endangers small joints on arms and legs, usually simetrically on both sides. RA is autoimmune, complex disease and it can appear because of genetic and environmental factors. The heritability of RA has been estimated to be about 50 to 60 %. Trigger for the disease is still unknown. Genome wide association studies (GWAS) have successfully associatedmore than 100 risk loci with RA. GWA studies are based on comparison of allele frequency between controls and patients where we genotipe many single nucleotide polymorphisms (SNP) on genome. GWA studies have shown that SNPs on three independent loci on chromosome 1 (1p36, 1p24 in 1p34) are closely related to RA in other populations. Those SNPs can be found in gene PADI4 (rs2301888), CD247 (rs864537), MTF1 (rs28411352). We focused on finding the connection between this three locis on chromosome 1 and Slovenian patients with RA. We have genotyped 276 patients with RA and 276 healthy individuals for each SNP, with two methods. One was high resolution melting (HRM) and the second was polymerase chain reaction followed by restriction fragment lenght polymorphism (RFLP). We found statistically significant association of SNP rs28411352 in gene MTF1 and patients with RA. Amongst patients with RA the frequency of allele C was significantly higher (0,833) than amongst controls (0,767, p = 0,014). For SNP rs864537 in gene CD247 no significance has been found. For SNP rs2301888 in gene PADI4 we observed elevated frequency of allele T and genotype TT amongst patients with RA, but no significance has been reached.
Keywords:rheumatoid arthritis, chromosome 1, association analysis, SNP


Comments

Leave comment

You must log in to leave a comment.

Comments (0)
0 - 0 / 0
 
There are no comments!

Back
Logos of partners University of Maribor University of Ljubljana University of Primorska University of Nova Gorica