Jianghui Qin

Association of the D repeat polymorphism in the ASPN gene with developmental dysplasia of the hip: a case-control study in Han Chinese

IntroductionDevelopmental dysplasia of the hip (DDH) is a common skeletal disease, which is characterized by abnormal seating of the femoral head in the acetabulum. Genetic factors play a considerable role in the etiology of DDH. Asporin (ASPN) is an ECM protein which can bind to TGF-β1 and sequentially inhibit TGF-β/Smad signaling. A functional aspartic acid (D) repeat polymorphism of ASPN was first described as an osteoarthritis-associated polymorphism. As TGF-β is well known as an important regulator in the development of skeletal components, ASPN may also be involved in the etiology of DDH. Our objective is to evaluate whether the D repeat polymorphism of ASPN is associated with DDH in Han Chinese.MethodsThe D repeat polymorphism was genotyped in 370 DDH patients and 445 control subjects, and the allelic association of the D repeat was examined.ResultsFrom D11 to D18, eight alleles were identified. D13 allele is the most common allele both in control and DDH groups, the frequencies are 67.3% and 58.1% respectively. In the DDH group, a significantly higher frequency of the D14 allele and significantly lower frequency of D13 was observed. The association of D14 and D13 was found in both females and males after stratification by gender. There was no significant difference in any other alleles we examined.ConclusionsOur results show an obvious association between the D repeat polymorphism of ASPN and DDH. It indicates that ASPN is an important regulator in the etiology of DDH.

Incidence of Symptomatic and Asymptomatic Venous Thromboembolism After Elective Knee Arthroscopic Surgery: A Retrospective Study With Routinely Applied Venography

PURPOSE The purpose of this study was to assess the incidence of total venous thromboembolism (VTE) after knee arthroscopy with routinely applied venography. METHODS We reviewed 537 consecutive patients undergoing arthroscopic knee surgery from March 2012 to July 2013. The surgical procedure was categorized as simple anterior cruciate ligament reconstruction (ACLR), posterior cruciate ligament reconstruction (PCLR), or reconstruction of both cruciate ligaments. All patients having arthroscopy in our institution were routinely examined with venography on the third postoperative day. Clinical signs of DVT were checked and recorded before venography. RESULTS Eighty (14.9%) of 537 patients were diagnosed with VTE by venography. Of the 80 detected cases of VTE, only 20 (3.7%) patients presented with clinical signs of DVT, indicating that there were 60 (11.2%) asymptomatic cases. No patient died or presented with a clinically suspected pulmonary embolism (PE). Sex, body mass index (BMI), operative time, and duration of tourniquet application were not significant risk factors for DVT. Patient age (P < .0001) is a strongly significant risk factor for deep venous thrombosis (DVT). Compared with patients who underwent simple arthroscopic procedures, complex procedures-the reconstruction of 1 (P < .005) or both knee cruciate ligaments (P < .0005)-led to a significantly higher postoperative incidence of DVT. CONCLUSIONS The total incidence of VTE diagnosed with venography after arthroscopic knee surgery was 14.9%, of which only 3.7% of cases were symptomatic, indicating 11.2% cases of silent VTE. Advanced age and complex arthroscopic surgery are strongly associated with VTE. LEVEL OF EVIDENCE Level IV, prognostic case series.

Association of the aspartic acid-repeat polymorphism in the asporin gene with age at onset of knee osteoarthritis in Han Chinese Population

AbstractRecent genetic studies for osteoarthritis (OA) have been focused on ASPN, the gene encoding asporin, where aspartic acid (D)-repeat polymorphisms are associated with OA in several ethnic groups. The purpose of the present study is to further examine the association of the D-repeat polymorphism in a Han Chinese population. The D-repeat polymorphism was genotyped in 354 knee OA patients (257 women and 97 men) who suffered from primary symptomatic knee OA with radiographic confirmation, and the association of the repeat with various clinical parameters was examined. The age at onset (years) in patients with the D14 allele (mean: 51.9, SD: 8.5) was younger than that those without the D14 allele (mean: 54.9, SD: 10.9) (P = 0.023). Survival analysis showed D14 was significantly associated with age at onset of OA (P = 0.004 in the dominant model). The average age at onset of patients with the D13/D13 genotype (mean: 56.1, SD: 11.1) was older than those without the D13/D13 genotype (mean: 53.0, SD: 9.9) (P = 0.013). Our study further highlighted the significance of asporin in OA.

Lack of association of single nucleotide polymorphism in LRCH1 with knee osteoarthritis susceptibility

AbstractA genetic association of knee osteoarthritis (OA) and a C/T transition single nucleotide polymorphism (SNP) (rs912428) located in intron 1 of the LRCH1 gene has recently been reported in European Caucasians; however, the results are inconsistent. Our objective was to evaluate the association in different knee OA populations. Three case-control association studies were conducted in Han Chinese, Japanese, and Greek Caucasian populations. The LRCH1 SNP was genotyped in patients who had primary symptomatic knee OA with radiographic confirmation and in matched controls, and the association was examined. We performed a meta-analysis for the studies together with results of two previous papers using the DerSimonian–Laird procedure and calculated the power of the pooled studies by the software R. A total of 1,145 OA patients and 1,266 controls were genotyped. No significant difference was detected in genotype or allele frequencies between knee OA and control groups in the three populations (all P > 0.05). Association was not observed even after stratification by gender and Kellgren/Lawrence (K/L) scores. Meta-analysis also supported the lack of association between LRCH1 and knee OA. The strong heterogeneity between original and replication studies was detected in Caucasian populations. However, a tendency for the increase of TT genotype was observed in the European populations (OR = 1.46, P = 0.06). The powers for European and Asian replication studies were less than 0.8. Our results suggest that there is no association between LRCH1 and knee OA. However, lack of association should be concluded by further replication studies.

Deep Venous Thrombosis After Knee Arthroscopy: A Systematic Review and Meta-Analysis

PURPOSE To establish a contemporary literature-based estimate of the incidence of deep venous thrombosis (DVT) after knee arthroscopic surgery. METHODS We performed a systematic review and meta-analysis of the English language literature to assess the efficacy of prophylaxis to prevent DVT after knee arthroscopic surgery. Only randomized controlled trials (RCTs) or prospective studies were considered. Studies were excluded if they were not original prospective studies concerning DVT detected by imaging after knee arthroscopic surgery. We calculated pooled proportions of postoperative DVT and proximal DVT. RESULTS Nine prospective uncontrolled studies and 4 RCTs were retrieved. Within them, the populations given low-molecular-weight heparin (LMWH) to prevent DVT had a 0.1% to 11.9% incidence of DVT, with an overall 36 DVTs identified (4 proximal), averaging 1.8%. One hundred thirty-six DVTs (29 proximal) were indicated in the populations without prophylaxis, and the DVT incidence varied from 1.8% to 41.2%, averaging 6.8%. Of the RCTs, the pooled risk ratio for DVT to develop was 0.180 (range, 0.065 to 0.499) for those who had LMWH as prophylaxis. An absolute risk reduction of 1.2%--from 1.5% to 0.3%--for the development of proximal DVT was observed. CONCLUSIONS Compared with patients who did not receive prophylaxis, the pooled risk ratio for the development of DVT was 0.18 for those who had LMWH prophylaxis. The incidence of proximal DVT is very low after arthroscopic surgery regardless of receiving prophylaxis (4 of 2,184) or not (29 of 1,814). The rate of proximal DVT in total DVT occurrence can be markedly reduced from 21.3% (29 of 136) to 11.1% (4 of 36). LEVEL OF EVIDENCE Level IV. This study is a meta-analysis of RCTs and a systematic review of Level IV studies.

Association of the leptin gene with knee osteoarthritis susceptibility in a Han Chinese population: a case-control study.

Previous studies have suggested that leptin works as a key regulator in the pathogenesis of osteoarthritis (OA), and genetic factors modulate OA. This study assessed the contribution of leptin gene (LEP) polymorphism(s) to knee OA among Han Chinese. Three tag single-nucleotide polymorphisms (SNPs) covering all those LEP SNPs of which the minor allele frequencies were over 10% were selected. Study subjects (697 patients and 699 controls) were divided into four groups (underweight, normal weight, overweight and obese) by body mass index (BMI). Allele and genotype frequencies in the three tag SNPs were significantly different in the normal weight and overweight groups. In the normal weight, overweight and obese groups, BMI (P=4.3 × 10−5, 0.012 and 0.009, respectively) and gender (P=3.5 × 10−22, 5.1 × 10−23 and 2.1 × 10−8, respectively) were effective factors. Age was an independent effective factor in the overweight group (P=0.009). Haplotypes were associated with OA in the normal weight group (CAT, P=0.015) and the overweight group (AGC, P=0.015). Our results suggest an association between LEP and knee OA in the normal weight and overweight groups among Han Chinese.

Lack of association between the CALM1 core promoter polymorphism (-16C/T) and susceptibility to knee osteoarthritis in a Chinese Han population

BackgroundCALM1 gene encodes calmodulin (CaM), an important and ubiquitous eukaryotic Ca2+-binding protein. Several studies have indicated that a deficient CaM function is likely to be involved in the pathogenesis of osteoarthritis (OA). Using a convincing genome-wide association study, a Japanese group has recently demonstrated a genetic association between the CALM1 core promoter polymorphism (-16C/T transition SNP, rs12885713) and OA susceptibility. However, the subsequent association studies failed to provide consistent results in OA patients of differently selected populations. The present study is to evaluate the association of the -16C/T polymorphism with knee OA in a Chinese Han population.MethodsA case-control association study was conducted. The polymorphism was genotyped in 183 patients who had primary symptomatic knee OA with radiographic confirmation and in 210 matched controls. Allelic and genotypic frequencies were compared between patients and control subjects.ResultsNo significant difference was detected in genotype or allele distribution between knee OA and control groups (all P > 0.05). The association was also negative even after stratification by sex. Furthermore, no association between the -16C/T SNP genotype and the clinical variables age, sex, BMI (body mass index) and K/L (Kellgren/Lawrence) score was observed in OA patients.ConclusionThe present study suggests that the CALM1 core promoter polymorphism -16C/T is not a risk factor for knee OA susceptibility in the Chinese Han population. Further studies are needed to give a global view of this polymorphism in pathogenesis of OA.

Association of single-nucleotide polymorphisms in RHOB and TXNDC3 with knee osteoarthritis susceptibility: two case-control studies in East Asian populations and a meta-analysis

IntroductionConflicting findings on the association of single nucleotide polymorphisms (SNPs) in RHOB and TXNDC3 with susceptibility to knee osteoarthritis (OA) have been reported in European Caucasians. To examine the associations of these SNPs with OA in East Asian populations and to evaluate their global significance, we conducted two case-control studies in 955 Chinese and 750 Japanese patients.MethodsWe genotyped the previously implicated SNPs rs585017 (in RHOB) and rs4720262 (in TXNDC3) in patients with primary symptomatic knee OA with radiographic confirmation and in matched control individuals, and analyzed their associations. We further conducted a meta-analysis of the study findings together with those of previously reported European studies using the DerSimonian-Laird procedure.ResultsA significant association of RHOB with knee OA was observed in male Chinese patients (P = 0.02). No significant associations were found for RHOB in any other comparisons in the East Asian populations. The association of TXNDC3 was replicated in Chinese female (P = 0.04) and Japanese (P = 0.03) patients, although none of these associations persisted after Bonferroni correction. Significant association (P = 0.02 for the allelic frequency) with nonsignificant heterogeneity was found in the East Asian replication study. No significant association was found in any comparison in the meta-analysis for all studies.ConclusionOur study replicates the association, previously reported in European Caucasians, of TXNDC3 with knee OA susceptibility in an East Asian population.

Effect of Low-Magnitude, High-Frequency Vibration Treatment on Retardation of Sarcopenia: Senescence-Accelerated Mouse-P8 Model

Sarcopenia-related falls and fall-related injuries in community-dwelling elderly people garnered more and more interest in recent years. Low-magnitude high-frequency vibration (LMHFV) was proven beneficial to musculoskeletal system and recommended for sarcopenia treatment. This study aimed to evaluate the effects of LMHFV on the sarcopenic animals and explore the mechanism of the stimulatory effects. Senescence-accelerated mouse P8 (SAMP8) mice at month 6 were randomized into control (Ctrl) and vibration (Vib) groups and the mice in the Vib group were given LMHFV (0.3 g, 20 min/day, 5 days/week) treatment. At months 0, 1, 2, 3, and 4 post-treatment, muscle mass, structure, and function were assessed. The potential proliferation capacity of the muscle was also evaluated by investigating satellite cells (SCs) pool and serum myostatin expression. At late stage, the mice in the Vib group showed higher muscle strength (month 4, p = 0.028). Generally, contractibility was significantly improved by LMHFV (contraction time [CT], p = 0.000; half-relaxation time [RT50], p = 0.000). Enlarged cross-sectional area of fiber type IIA was observed in the Vib group when compared with Ctrl group (p = 0.000). No significant difference of muscle mass was observed. The promotive effect of LMHFV on myoregeneration was reflected by suppressed SC pool reduction (month 3, p = 0.000; month 4, p = 0.000) and low myostatin expression (p = 0.052). LMHFV significantly improved the structural and functional outcomes of the skeletal muscle, hence retarding the progress of sarcopenia in SAMP8. It would be a good recommendation for prevention of the diseases related to skeletal muscle atrophy.

Genetic Polymorphism of NOS3 with Susceptibility to Deep Vein Thrombosis after Orthopedic Surgery: A Case- Control Study in Chinese Han Population

Deep vein thrombosis is one of the common complications of orthopedic surgery. Studies indicated that genetic factors played a considerable role in the pathogenesis of deep vein thrombosis. Endothelial nitric oxide synthase which encoded by nitric oxide synthase 3 (NOS3), can generate nitric oxide in endothelial cells. As a predominant regulator for vascular homeostasis, nitric oxide might be involved in the pathogenesis of thrombosis. It had been proved that the NOS3 polymorphism (rs1799983) was associated with the development of cardiovascular diseases. Our objective was to evaluate the association between the NOS3 polymorphism (rs1799983) and deep vein thrombosis after orthopedic surgery in Chinese Han population. The polymorphism was genotyped in 224 subjects with deep vein thrombosis after orthopedic surgery and 580 controls. Allele and genotype frequencies were compared between subjects with deep vein thrombosis and control subjects. The allele and genotype frequencies of the NOS3 polymorphism (rs1799983) were significantly different between subjects with deep vein thrombosis and control subjects. There were also significant differences when the subjects were stratified by gender, surgery type and hypertension status. These findings suggested that the NOS3 polymorphism (rs1799983) was associated with susceptibility to the deep vein thrombosis after orthopedic surgery in Chinese Han population, and NOS3 might play a role in the development of deep vein thrombosis after orthopedic surgery.