Abstract
Osteoarthritis (OA) is a degenerative joint disease characterized by joint destruction with cartilage loss and occasional gross derangement of joint integrity. In recent years, several studies have reported the association between angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism and knee OA. However, the results were conflicting. To determine the association between ACE gene I/D polymorphism and knee OA, we conducted a hospital-based case–control study with 282 knee OA cases and 316 controls to investigate the association between ACE gene I/D polymorphism and knee OA susceptibility in a Chinese Han population. The present study found that DD genotype or D allele carriers of ACE gene I/D polymorphism increased the risk of knee OA. Stratification analyses of sex, age, and body mass index (BMI) showed significant associations amongst the groups of females, ≥55 years, and abnormal BMI. In addition, the present study made analysis between ACE I/D polymorphism and some clinical features of OA, and found DD genotype of I/D polymorphism was associated with arthralgia. Furthermore, we undertook a meta-analysis together with the present study between this single nucleotide polymorphism (SNP) and knee OA risk. This meta-analysis found that ACE gene I/D polymorphism was associated with increased risk for OA. Stratification analysis of ethnicity in this meta-analysis indicated that I/D polymorphism increased the risk of knee OA amongst the Asians and Caucasians. In conclusion, this case–control study and meta-analysis suggest that ACE gene I/D polymorphism is associated with increased risk for knee OA.
Highlights
Osteoarthritis (OA) is a degenerative joint disorder resulting in destruction of articular cartilage, osteophyte formation, and subchondral bone sclerosis [1]
Our meta-analysis indicated that Angiotensin-converting enzyme (ACE) gene I/D polymorphism was associated with the increased risk for knee OA (D compared with I: odds ratio (OR) = 1.39, 95% confidence interval (CI) = 1.03–1.86, P=0.031; DD+ID compared with II: OR = 1.70, 95% CI = 1.11–2.60, P=0.016; DD compared with II: OR = 1.84, 95% CI = 1.02–3.30, P=0.041; ID compared with II: OR = 1.59, 95% CI = 1.11–2.27, P=0.010; Table 7 and Figure 1)
The present case–control study showed that the DD genotype or D carriers of I/D polymorphism was associated with significantly increased risk of knee OA in a Chinese Han population
Summary
Osteoarthritis (OA) is a degenerative joint disorder resulting in destruction of articular cartilage, osteophyte formation, and subchondral bone sclerosis [1]. Genetic factors account for 50% of the risk of OA development [2] and prior research suggests that OA is primarily influenced by genetic risk factors due to common population polymorphisms in multiple genes [3,4,5,6]. Angiotensin-converting enzyme (ACE) gene is localized on chromosome 17 and contains a polymorphism based on the presence (insertion, I) or absence (deletion, D) within intron 16, of a 287-bp Alu repeat sequence within intron 16, resulting in three different genotypes: DD and II homozygous and ID heterozygous. The role of ACE polymorphism has been investigated as a risk factor for several diseases such as inflammatory and immune-related disorders [7], the rheumatic and autoimmune diseases
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