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Publikasjoner
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Eftedal, Randi Krog; Jotanovic, Zdravko; Balen, Sanja & Dembic, Zlatko
(2020).
TNFA Genetic Polymorphism is Associated with Risk for Developing Hip but not Knee Osteoarthritis in Croatian Population.
EC Gastroenterology and Digestive System.
ISSN 2276-1209.
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Eftedal, Randi Krog; Vrgoc, Goran; Jotanovic, Zdravko & Dembic, Zlatko
(2019).
Alternative Interleukin 17A/F Locus Haplotypes Are Associated With Increased Risk to Hip and Knee Osteoarthritis.
Journal of Orthopaedic Research.
ISSN 0736-0266.
37(9),
s. 1972–1978.
doi:
10.1002/jor.24334.
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We studied the genetic epidemiology of primary large‐joint (hip and knee) osteoarthritis (OA), in order to find disease risk factors by a candidate‐gene approach. We used case–control study in the Croatian Caucasian population. We genotyped 500 OA patients (260 hip, 240 knee; both with total joint replacements) and 597 healthy individuals for single‐nucleotide polymorphisms (SNPs) in interleukin 17A (IL17A) (rs2275913) and IL17F (rs763780 and rs1889570) genes. On the basis of our population and allelic and genotypic frequencies haplotypes were predicted by PHASE software and compared between patients and controls. The three‐SNP haplotype (rs2275913–rs763780–rs1889570) G–C–A confers predisposition to hip (p < 0.005) but not knee OA. The three‐SNP haplotype having opposed nucleotides A–T–G was found significantly associated with 2.6 times higher risk for developing knee (p < 0.02) but not hip OA. The haplotype G–T (IL17A–IL17F; rs2275913–rs763780) is associated with protection to the disease in hip OA (p < 0.01). Our analyses show that two disparate haplotypes within the IL17A‐F gene locus are associated with higher risk to developing hip and knee OA in the Croatian population. The data might suggest a difference in the etiology of hip OA from that of the knee OA, perhaps due to an unknown dissimilarity in vulnerability of these joints to the actions of IL17. Alternatively, other differences in genetic factors like the long non‐ protein coding region LINCMD1 and/or microRNA species like miR133b and miR206 found in the vicinity of the IL17 locus might be involved in the observed risk.
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Vrbanec, Jurica; Lederer-Dembic, Petra; Bulat-Kardum, Ljiljana; Balen, Sanja; Eftedal, Randi Krog & Dembic, Zlatko
(2016).
Genetic Risk of Tuberculosis is Spread within the Hallmarks of the Disease.
Immunotherapy: Open Access.
ISSN 2471-9552.
2(2),
s. 117–122.
doi:
10.4172/2471-9552.1000117.
Fulltekst i vitenarkiv
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Kaarvatn, Marikken Heiland; Eftedal, Randi Krog; Vrbanec, Jurica; Jotanovic, Zdravko; Etokebe, Godfrey & Sanja, Balen
[Vis alle 8 forfattere av denne artikkelen]
(2012).
Interleukin-1 Gene Locus Polymorphisms are Associated with Risk to Breast Cancer in Croatian Population.
Periodicum biologorum.
ISSN 0031-5362.
114(4),
s. 497–503.
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Breast cancer has a complex genetic susceptibility. Innate and adaptive immunity can additionally increase the genetic risk to breast cancer development. We typed polymorphisms in the genes of the interleukin(IL)-1 and IL-17 proinflammatory cytokines in a case-control study in Caucasian population from Croatia. We compared the allelic and genotypic frequencies between patients (n=194), healthy women (n=188) and general population (n=531). The risk for breast cancer has been significantly different at both allelic and genotypic levels for two polymorphisms: the IL1B gene single
nucleotide polymorphism (SNP) at -511 (G>A; rs16944) and the IL1
Receptor antagonist gene (IL1RN) variable number of tandem repeats
(VNTR). Themajor allele (G) of the IL1B rs16944 SNPwas associated with susceptibility to breast cancer (P<0.01) in general populationwith odds ratio (OR) of 1.42 and 95 % confidence interval (CI) at 1.09–1.85. The IL1RN VNTR allele 3 (5 repeats) was correlated with predisposition to disease (P<0.01,OR: 9.71, 95%CI: 1.34–198.51) inwomen. At the genotype level, G/G homozygosity at IL1B rs16944 was significantly associated with predisposition to disease (P<0.02, OR: 1.68, 95 % CI: 1.10–2.57), whereas the heterozygosity (G/A) was correlatedwith protection to disease (P<0.01, OR:
0.57, 95 % CI: 0.37–0.89) in women. The IL1RN VNTR genotype 1/3 was significantly associated with susceptibility to breast cancer (P<0.01, OR: 10.01, 95 % CI: 1.37–207.55). Genotypic differences were also significantly different in comparison with general population for IL1B SNP (P<0.001) and IL1RN VNTR (P<0.01). These results corroborate a premise that inflammatory factors play a role in pathogenesis to breast cancer.
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Publisert 26. feb. 2014 12:01