title: IL1B -511(G>A) and IL1RN (VNTR) allelic polymorphisms and susceptibility to knee osteoarthritis in Croatian population.
abstract: Osteoarthritis (OA) is a frequent, destructive joint disease, with debilitating impact on a society regarding medical, social, and economic issues. Although causes of primary OA were still not fully elucidated, evidence points to complex genetic risk that varies among different population groups, including the interleukin-1 (IL-1) gene cluster. Here, we sought to determine allelic and genotypic frequencies of the IL-1β (IL1B) and the IL-1 receptor antagonist (IL1RN) genes using single nucleotide polymorphism (SNP) at -511(G>A; rs16944) and the variable number tandem repeat (VNTR) in a case-control study with 238 patients that have undergone total or partial knee replacement and 495 healthy blood donors as controls in Croatia. The alleles of the IL1B gene at -511G>A were detected by Taqman real-time polymerase chain reaction (PCR) method and IL1RN VNTR by amplifying its DNA by PCR. The genotypes 1-2/1-2 and 2-1/2-2 at IL1B G -511A-IL1RN (VNTR) showed trends for association with the occurrence of the knee OA in this population (P = 0.09; P = 0.07, respectively). Furthermore, neither the alleles nor the haplotypes were found associated with the predisposition to knee OA. Our findings suggest that knee OA might have a different genetic risk in this Caucasian population. We did not found significant association of the IL1 gene cluster (IL1B-IL1RN) with severe knee OA. However, we found that two genotypes (1-2/1-2 and 2-1/2-2) show a trend toward association with susceptibility to disease.
authors.affiliation: Clinic for Orthopaedic Surgery Lovran, School of Medicine, University of Rijeka, Marsala Tita 1, 51415 Lovran, Croatia. zjotanov@inet.hr
authors.forename: Zdravko
authors.initials: Z
authors.lastname: Jotanovic
authors.forename: Godfrey Essien
authors.initials: GE
authors.lastname: Etokebe
authors.forename: Radovan
authors.initials: R
authors.lastname: Mihelic
authors.forename: Marikken Heiland
authors.initials: MH
authors.lastname: Kaarvatn
authors.forename: Biserka
authors.initials: B
authors.lastname: Mulac-Jericevic
authors.forename: Tamara
authors.initials: T
authors.lastname: Tijanic
authors.forename: Sanja
authors.initials: S
authors.lastname: Balen
authors.forename: Branko
authors.initials: B
authors.lastname: Sestan
authors.forename: Zlatko
authors.initials: Z
authors.lastname: Dembic
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D019645:Arthroplasty, Replacement, Knee; D016022:Case-Control Studies; D017523:Croatia; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D053590:Interleukin 1 Receptor Antagonist Protein / Q000235:genetics*; D053583:Interleukin-1beta / Q000235:genetics*; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D018598:Minisatellite Repeats / Q000235:genetics; D020370:Osteoarthritis, Knee / Q000235:genetics* / Q000601:surgery; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D012720:Severity of Illness Index
chemical_list: C508585:IL1B protein, human; C507763:IL1RN protein, human; D053590:Interleukin 1 Receptor Antagonist Protein; D053583:Interleukin-1beta