An updated meta-analysis of the asporin gene D-repeat in knee osteoarthritis: effects of gender and ethnicity

Abstract

BackgroundKnee osteoarthritis (KOA) is the most prevalent form of knee joint disease and characterized by the progressive degeneration of articular cartilage. Although pathology of KOA remains unknown, genetic factors are considered to be the major cause. Asporin is a group of biologically active components of extracellular matrix (ECM) in articular cartilage, and asporin gene (ASPN) D-repeat polymorphism was reported to be associated with KOA. Thus, our meta-analysis is aimed at investigation of the association between asporin D-repeat polymorphism and susceptibility of KOA.MethodsWe gathered data from MEDLINE, Embase, OVID, and ScienceDirect to search relevant published epidemiological studies through April 2017. Compared with previous studies, our meta-analysis is the first study to investigate the association of ASPN D15, D16, and D17 alleles and KOA susceptibility by ethnic- and sex-stratified subgroup analysis.ResultsWe found no significant association between D15 allele and susceptibility to KOA (OR = 1.05, 95% CI 0.95–1.17) in overall population. The same results were observed in the analysis of D16 (OR = 1.01, 95% CI 0.80–1.28) and D17 alleles (OR = 1.28, 95% CI 0.91–1.80). The ethnic- and sex-subgroup analyses did not alter the ORs. However, significant association was detected in the sensitivity analysis of D17 in overall population (OR = 1.05, 95% CI 0.95–1.17) and Asian population (OR = 1.78, 95% CI 1.02–3.11, P < 0.05).ConclusionOur results indicated that D-repeat polymorphism of ASPN may not play a major role in susceptibility of KOA in ethnic- and sex-specific analysis. Because of the limitations of the present meta-analysis, firm conclusions could not be drawn based on the current evidence, and further studies are required to detect genuine role of ASPN.

Abundance of ethnically biased microsatellites in human gene regions

“…Previous studies suggest that frequency of the D14 allele increases with disease severity [45, 46]. Our findings show that the D14 allele is most common in Africans which conceivably contributes to their high rates of large joint osteoarthritis [47]. Future work will address this hypothesis.…”

Frequency of Growth Differentiation Factor 5 rs143383 and asporin D‐repeat polymorphisms in patients with hand and knee osteoarthritis in Kurdistan province, Iran

“…Previous studies have shown that ASPN, a leucine-rich repeat protein, plays a major role in the pathogenesis of OA. 28,38 The ASPN gene also regulates the production of an extracellular cartilage protein, belonging to the leucine-rich proteoglycan family. 39 It has a variable number of aspartic acid residues in the N-terminal end.…”

“…26,27 The repeat poly-mutation (D-repeat) in ASPN was first defined in 2005 as a knee OA-related polymorphism. 28 The D14 allele of ASPN was found in patients with knee OA. The inhibition of TGFβ 1 in the D14 allele is greater than the D13 allele, which is recognized as a common allele.…”

Gait Analysis after Total Knee Arthroplasty Assisted by 3D‐Printed Personalized Guide

“…OA was mainly manifested as the degeneration and wear of cartilage and subchondral bone. The occurrence of OA is multifactorial, which is related to gender, age, body mass index (BMI), mechanical axis of the lower limb, biomechanical factors, and others [4][5][6][7][8]. OA of the knee should be treated with step care.…”