Table 1.
Examples of genes reported as associated with osteoarthritis (OA) through candidate gene studies
| Gene | Chromosome | Associated polymorphism | Protein | Protein function | Joint | Ethnic group | Refs |
|---|---|---|---|---|---|---|---|
| GDF5 | 20q11.22 | rs143383 | Growth differentiation factor 5 | Regulator of cell growth and differentiation | Knee and hip | Asians and Europeans | 7–9 |
| SMAD3 | 15q22.33 | rs12901499 | Mothers against decapentaplegic homologue 3 | Signal transducer and transcriptional modulator | Knee and hip | Europeans No Asian reports yet |
10 |
| ASPN | 9q22.31 | Triplet repeat of the codon for aspartic acid | Asporin | Cartilage extracellular protein, member of the small leucine-rich proteoglycan family | Knee | AsiansNot Europeans | 11 |
| EDG2/LPAR1 | 9q31.3 | rs10980705 | Lysophosphatidic acid receptor 1 | Lysophosphatidic acid receptor | Knee | Asians Not Europeans |
12,13 |
| CALM1 | 14q24-q31 | rs12885713 | Calmodulin | Subunit of phosphorylase kinase | Hip | Asians Not Europeans |
14,15 |
| DIO2 | 14q31.1 | rs225014 and rs12885300 | Type II iodothyronine deiodinase | Catalyses the activation of thyroid hormone | Hip | Europeans and Asians | 16 |
| DIO3 | 14q32.31 | rs945006 | Type III iodothyronine deiodinase | Catalyses the inactivation of thyroid hormone | Knee and hip | Europeans No Asian reports yet |
17 |
| SREBF2 | 22q13.2 | rs2228314 | Sterol regulatory element-binding protein 2 | Transcription factor controlling cholesterol homeostasis | Knee | Europeans No Asian reports yet |
18 |