Disease relevance of ASPN

• Here we report a significant association between a polymorphism in the aspartic acid (D) repeat of the gene encoding asporin (ASPN) and osteoarthritis [1].
• In two independent populations of individuals with knee osteoarthritis, the D14 allele of ASPN is over-represented relative to the common D13 allele, and its frequency increases with disease severity [1].
• The Asporin (ASPN) gene which encodes a protein of the extracellular cartilage matrix contains a triplet repeat encoding for aspartic acid (D) within exon 2 The D14 allele was found associated with knee and hip osteoarthritis in case-control study in the Japanese population [2].
• Detection of intracranial tumors, subarachnoid hemorrhages, and subdural hematomas in primary care patients: a report from ASPN, Part 2 [3].

Psychiatry related information on ASPN

• Patient race and ethnicity in primary care management of child behavior problems: a report from PROS and ASPN. Pediatric Research in Office Settings. Ambulatory Sentinel Practice Network [4].

High impact information on ASPN

• A meta-analysis of these data and those from previously published reports indicated a strong association between the FRZB G324 allele (P < 0.0003) and suggested that an ASPN allele is protective against the risk of knee OA in Caucasians (P < 0.02) [5].
• OBJECTIVE: To investigate the role of the functional polymorphism consisting of an aspartic acid (D) repeat polymorphism located in the ASPN gene in the susceptibility to and clinical outcome of rheumatoid arthritis [6].
• Expression profile of active genes in human periodontal ligament and isolation of PLAP-1, a novel SLRP family gene [7].
• We found that it encodes a novel protein, which is a new member of the class I small leucine-rich repeat proteoglycan family, and designated it PLAP-1 (periodontal ligament associated protein-1) [7].
• PLAP-1 mRNA expression was confirmed in in vitro-maintained PDL cells and was enhanced during the course of the cytodifferentiation of the PDL cells into mineralized tissue-forming cells such as osteoblasts and cementoblasts [7].

Biological context of ASPN

• Polymorphisms were revealed in both genes, including a pentanucleotide microsatellite (SCZ003) in OGN and two single nucleotide polymorphisms (AM181682.1:g.780G>T and AM181682.1:g.825T>C) in ASPN [8].
• We recently found that an aspartic-acid repeat polymorphism of the asporin gene (ASPN) on chromosome 9 is associated with susceptibility to OA in Japanese. We provide here a high-resolution single nucleotide polymorphism (SNP) map within a 33.4-kb genomic region containing ASPN [9].
• Porcine OGN and ASPN: mapping, polymorphisms and use for quantitative trait loci identification for growth and carcass traits in a Meishan x Piétrain intercross [8].
• International Education in Pediatric Neurosurgery. Pudenz lecture: ASPN 2002, NEVIS, 1/28/2002 [10].
• SUMMARY: The FRZB, ASPN and CALM1 results are compelling and highlight that polymorphism in signal transduction pathways is a major component of osteoarthritis susceptibility [11].

Anatomical context of ASPN

• The porcine orthologues of human chromosome HSA9q22.31 genes osteoglycin (OGN) and asporin (ASPN) were mapped to porcine chromosome SSC3 using linkage analysis and a somatic cell hybrid panel [8].
• Since these are essential structural components of articular cartilage, the ASPN and CALM1 associations are predicted to adversely affect the maintenance of cartilage [11].
• The associated alleles at ASPN and CALM1 reduce the ability of chondrocytes to express the genes encoding aggrecan and type II collagen [11].

Other interactions of ASPN

• The evidence for involvement of these genes in OA is more compelling for some than others, with the IL1 and ASPN associations being the most convincing to date [12].
• A Japanese group has reported an association of the asporin gene ASPN with knee and hip osteoarthritis and an association of the calmodulin 1 gene CALM1 with hip osteoarthritis [11].

References