Crystals in hand.
A genetic association of the ENPP1 gene with primary hand osteoarthritis was recently reported in this journal. ENPP1 encodes an enzyme that regulates soft tissue calcification. The study as it stands is far from complete because the actual causal variant(s) within ENPP1 has not been identified and no functional study on the activity of the enzyme in hand osteoarthritis was presented. Nevertheless, the study stimulates interest and will encourage others in the field to test ENPP1 as a possible osteoarthritis susceptibility gene in their cohorts. The genetic basis of osteoarthritis is slowly being uncovered, and this report constitutes another interesting find.
Loughlin
John
J
University of Oxford, Institute of Musculoskeletal Sciences, Botnar Research Centre, Oxford, UK. john.loughlin@ndcls.ox.ac.uk
D000328:Adult; D001486:Bashkiria / Q000453:epidemiology; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D003460:Crystallization; D011756:Diphosphates / Q000378:metabolism; D005006:Ethnicity / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005838:Genotype; D050276:Hand Bones / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D015810:Linkage Disequilibrium; D018895:Microsatellite Repeats; D010003:Osteoarthritis / Q000000981:diagnostic imaging / Q000208:ethnology / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010727:Phosphoric Diester Hydrolases / Q000235:genetics / Q000502:physiology*; D020641:Polymorphism, Single Nucleotide; D011755:Pyrophosphatases / Q000235:genetics / Q000502:physiology*; D011859:Radiography; D012045:Regulatory Sequences, Nucleic Acid; D012426:Russia / Q000453:epidemiology
D011756:Diphosphates; D010727:Phosphoric Diester Hydrolases; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1; D011755:Pyrophosphatases