0000000000394281

AUTHOR

Annu Näkki

showing 2 related works from this author

Allelic variants of IL1R1gene associate with severe hand osteoarthritis

2010

Background In search for genes predisposing to osteoarthritis (OA), several genome wide scans have provided evidence for linkage on 2q. In this study we targeted a 470 kb region on 2q11.2 presenting the locus with most evidence for linkage to severe OA of distal interphalangeal joints (DIP) in our genome wide scan families. Methods We genotyped 32 single nucleotide polymorphisms (SNPs) in this 470 kb region comprising six genes belonging to the interleukin 1 superfamily and monitored for association with individual SNPs and SNP haplotypes among severe familial hand OA cases (material extended from our previous linkage study; n = 134), unrelated end-stage bilateral primary knee OA cases (n =…

AdultMalelcsh:Internal medicineLinkage disequilibriumLINKAGE DISEQUILIBRIUMlcsh:QH426-470Hand JointsNF-KAPPA-BSingle-nucleotide polymorphismLocus (genetics)KNEE OSTEOARTHRITISBiologyRADIOGRAPHIC SIGNSPolymorphism Single NucleotideSeverity of Illness IndexGenomeCHROMOSOME 2QINTERLEUKIN-1 RECEPTOR ANTAGONIST03 medical and health sciences0302 clinical medicineOsteoarthritisGeneticsHumansSNPGenetic Predisposition to DiseaseGenetics(clinical)Allelelcsh:RC31-1245GeneAllelesPOLYMORPHISMSGenetics (clinical)AgedHAPLOTYPE RECONSTRUCTION030304 developmental biologyReceptors Interleukin-1 Type I030203 arthritis & rheumatologyGenetics0303 health sciencesHaplotypeCLUSTERMiddle Aged314 Health sciences3. Good healthlcsh:GeneticsCase-Control StudiesDISC DEGENERATIONFemaleResearch ArticleBMC Medical Genetics
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Association study of MMP8 gene in osteoarthritis.

2016

Objectives: Osteoarthritis (OA) is a joint disease common in the elderly. There is a prior functional evidence for different matrix metalloproteinases (MMPs), such as MMP8 and MMP9, having a role in the breakdown of cartilage extracellular matrix in OA. Thus, we analyzed whether the common genetic variants of MMP8 and MMP9 contribute to the risk of OA. Materials and methods: In total, 13 common tagging single-nucleotide polymorphisms (SNPs) were studied in a discovery knee OA cohort of 185 cases and 895 controls. For validation, two knee OA replication cohorts and two hand OA replication cohorts were studied (altogether 1369 OA cases, 4445 controls in the five cohorts). The chi(2) test for …

0301 basic medicineOncologyMaleLinkage disequilibriumLINKAGE DISEQUILIBRIUMMATRIX METALLOPROTEINASESOsteoarthritisSUSCEPTIBILITYBioinformaticsMMP8BiochemistryOrthopedics and Sports MedicineIN-VIVOta3141Middle AgedOsteoarthritis Knee3142 Public health care science environmental and occupational healthmedicine.anatomical_structureMatrix Metalloproteinase 8CohortFemaleEXPRESSIONAdultmedicine.medical_specialtySingle-nucleotide polymorphismKNEE OSTEOARTHRITISta3111Polymorphism Single NucleotideAssociationANKLE JOINTS03 medical and health sciencesRheumatologyInternal medicinemedicineSNPHumansgeneMolecular BiologyGeneAgedbusiness.industryCartilageta1184Cell BiologyARTICULAR-CARTILAGEmedicine.diseaseosteoarthritis030104 developmental biologyWIDE STATISTICAL SIGNIFICANCENEUTROPHIL COLLAGENASE3111 BiomedicinebusinessConnective tissue research
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