Familial Early-Onset Osteoarthritis：Genetic Diagnosis andounseling II
Date Issued
2008
Date
2008
Author(s)
YANG, SHU-PING
Abstract
Osteoarthritis (OA) is a common type of degenerative arthritis, and it usually concerns hands, knees, hips, and spines, leading to the difficulty in movement, pain, and thus poor quality of life. In addition to aging and physical injuries, genetic susceptibility is also considered an important cause of OA. According to previoustudies, mutations in the related genes of cartilage commonly increase the probability of OA. The families with these mutated genes also have a higher incidence of earlynset OA. As a result, it is very important to establish the method for genetic diagnosis of OA-related to prevent its occurrence, especially for those families in high risk. Previously in our laboratory, we found a mutation of type II collagen (3689G⣷82;A) in a family of early onset OA. In this study, eleven subjects belonging to another victim family of early onset OA were investigated for COL2A1 mutation by PCR-sequencing. After comparison, heterozygotes are found in exon34, exon37, exon40, and exon53 (SNP ID:rs2276454, rs1635553, rs41272029, and rs2070739 respectively). Among these heterozygotes, SNP (rs2070739) G->A, which was found in exon53, results in amino acid change from glycine to serine. However, this mutation does not co-segregate with the phenotype of OA. Moreover, this SNP inxon54 is found commonly in Chinese ethnicity (about 4:6). It is concluded that this SNP (rs2070739) has no relation to familial OA in this study. In conclusion, genes other than COL2A1 may be responsible for familial early-onset OA in this specific family.
Subjects
osteoarthritis
type II collagen
familial heredity
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