J Korean Orthop Res Soc.  2006 Oct;9(2):135-145.

Identification of Knee Osteoarthritis Susceptibility Loci using 50K SNP microarray and DNA pooling

Affiliations
  • 1Department of orthopedic surgery, Busan National University College of Medicine, Busan, Korea. jtsuh@pusan.ac.kr
  • 2Department of Biochemistry, Busan National University College of Medicine, Busan, Korea.

Abstract

PURPOSE
I adopted two genomics technology, high-density microarray and DNA pooling for identification of knee osteoarthritis susceptibility loci in human genome. MATERIAL AND METHODS: DNA was purified from periphral blood from 26 cases of female osteoarthritis patients and 26 normal female controls. DNAs are pooled and used in microarray analysis. Results from qualitative analysis of microarray showed that 708 SNPs differ between case and control.
RESULTS
Of 708 SNPs, 167 SNPs were clustered. These SNPs constitute 23 'Clustered SNPs' and 64 genes were marked. 20 Clustered SNPs were marked at the same gene. So total 67 loci were identified. Among them ST6GALIII and CHST9 were genes coding structural proteins of cartilage. FATJ and CDH12 were genes coding cadherins related with cell-cell interaction. GRM7 codes metabotropic glutamate receptor 7 which is related with pain perception in arthritis. PLA2G4A codes phospholipase 2 which is related with production of inflammatory molecules.
CONCLUSION
These gene loci are candidates for further genomic and functional analysis to clarify the genetic predisposition in knee osteoarthritis.

Keyword

Single Nucleotide Polymorphism; Knee osteoarthritis; Genetic predisposition

MeSH Terms

Arthritis
Cadherins
Cartilage
Clinical Coding
DNA*
Female
Genetic Predisposition to Disease
Genome, Human
Genomics
Humans
Knee*
Microarray Analysis
Osteoarthritis
Osteoarthritis, Knee*
Pain Perception
Phospholipases
Polymorphism, Single Nucleotide
Receptors, Metabotropic Glutamate
Cadherins
DNA
Phospholipases
Receptors, Metabotropic Glutamate
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