Association analysis between HOXD9 genes and the development of developmental dysplasia of the hip in Chinese female Han population

Tian, Wei; Zhao, Liang; Wang, Jing; Suo, Peisu; Wang, Jianmin; Cheng, Longfei; Cheng, Zhi; Jia, Jian; Kan, Shilian; Wang, Binbin; Ma, Xu

doi:10.1186/1471-2474-13-59

Cited by 27 publications

(13 citation statements)

References 19 publications

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“…While in the severe stage, DDH is characterized by a rough joint surface, osteophyte formation and cystic degeneration and deformation of the femoral head. DDH affects approximately 1–5 of 1,000 infants , mainly affecting females (sex ratio: M/F = 1:8) . In our clinic, multiple cases of moderate DDH in young adult patients have been aggravated into severe DDH within only a few years, subjecting these patients to long‐term chronic pain, limited hip joint mobility and even claudication.…”

Section: Introductionmentioning

confidence: 85%

Severe cartilage degeneration in patients with developmental dysplasia of the hip

et al. 2017

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Developmental dysplasia of the hip (DDH) is a developmental disorder that has long-term chronic pain and limited hip joint mobility as major pathological characteristics. This study aims to access the association between the development of DDH and cartilage metabolic disorders. Cartilage tissue samples were acquired from patients with DDH, osteoarthritis (OA) and femoral neck fracture. The proteoglycan level was evaluated by safranin O-fast green, toluidine blue and hematoxylin-eosin (HE) staining. The levels of collagen-II (Col-II), collagen-X (Col-X) and metal matrix proteinase-13 (MMP-13) were evaluated by immunohistochemistry (IHC) and Western blotting analysis. The morphologic evaluation of cartilage was conducted by transmission electron microscopy (TEM). Quantitative real-time polymerase chain reaction (qRT-PCR) was performed to detect the mRNA level of aggrecan, Col-II, Col-X and MMP-13. The aggrecan level in the cartilage matrix was significantly decreased in DDH patients by safranin O-fast green and toluidine blue staining in comparison with that in the OA and control groups. In contrast with the OA group, the Col-II expression was reduced while the MMP-13 expression increased in DDH patients, as shown by IHC and Western blotting analysis. The collagenous fibrils in cartilage of DDH patients appeared significantly sparse and disordered in the TEM analysis. In DDH patients, the mRNA expression levels of Col-II and aggrecan were markedly reduced, while the mRNA expression of Col-X was markedly increased, compared with the OA patients. There is severe articular cartilage degeneration in DDH patients. This observation provides us with new insight into cartilage metabolic regulation in DDH. © 2017 IUBMB Life, 69(3):179-187, 2017.

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Section: Introductionmentioning

confidence: 85%

Severe cartilage degeneration in patients with developmental dysplasia of the hip

et al. 2017

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“…Matrix‐assisted laser desorption/ionization time‐of‐flight mass spectrometry (MALDI‐TOF MS) was used to perform multiple PCR and using SAP (shrimp alkaline phosphatase) to digest the remnant deoxynucleotide triphosphate in the system to avoid the effect of single base extension. The PCR products after single base extension were purified and using MALDI‐TOF MS to perform genotypic analysis (the workflow of MALDI‐TOF MS is shown in Figure ) . The primer sequences used for PCR are provided in Table .…”

Section: Methodsmentioning

confidence: 99%

Association analysis of interleukin‐23 receptor SNPs and SAPHO syndrome in Chinese people

Guo

Han

et al. 2019

Int J of Rheum Dis

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Objective: SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, and osteitis) is an autoimmune disease of unknown etiology that seriously affects patients' daily lives. Family-based investigations support genetic contributions toward disease susceptibility. The present study evaluated whether the previously reported autoimmune disease-associated single nucleotide polymorphisms (SNPs) have any genetic overlap with SAPHO syndrome. Method:Genomic DNA was obtained from 71 SAPHO patients and 104 healthy controls.The SNP genotypes of each patient were determined with polymerase chain reaction and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS). Genotype, allele, and haplotype frequencies were analyzed with SPSS software. Results: Three SNP sites (rs10889677 and rs2201841 of interleukin [IL]-23R, and rs2243248 of IL-4) showed significant correlation with the occurrence of SAPHO syndrome in additive and dominant genetic models, while rs7517847 of IL-23R showed substantial correlation with SAPHO in the dominant genetic model. The G allele of rs2243248 (IL-4) was a high risk factor for SAPHO (P = 2.41e−5, odds ratio [OR] =7.79, 95% CI: 2.59-23.3). The haplotype (A-G-C-G-T), comprising 5 SNPs of the IL-23R gene, had a significantly higher frequency in the SAPHO cohort than in the controls (P = .011, OR = 2.05, 95% CI: 1.12-3.60). Conclusion: Variants rs10889677, rs2201841, and rs7517847 of IL-23R, and variant rs2243248 of IL-4, showed strong associations with SAPHO syndrome. Patients carrying the A-G-C-G-T haplotype of IL-23 are significantly more likely to develop SAPHO syndrome. K E Y W O R D S CDKAL1, IL-23R, IL-4, SAPHO syndrome, SNPs | 2179 GUO et al.The underlying mechanisms of SAPHO syndrome are still controversial. Previous research has reported that various proteins, including Pstpip1, Pstpip2, and Lpin2, are associated with SAPHO and other autoimmune diseases. 2,3 In mice, the Laxer group found that dysregulation of IL-1 signaling can drive sterile osteomyelitis in Pstpip2-deficient mice. 4,5 However, genetic screening did not find any specific variants in the Pstpip1, Pstpip2, NOD2 or LPIN2 genes in patients with SAPHO syndrome. 6,7 Another group reported that the Mdm2 single nucleotide polymorphism (SNP) 309 G allele and the p53 SNP 72 C allele were risk alleles in a cohort of SAPHO patients. 8 In 2014, Firinu et al observed that TH17 lymphocytes were highly elevated in the peripheral blood of SAPHO subjects, suggesting that activation of the TH17 axis plays an important role in SAPHO syndrome. 9 Based on these reports, in this study we tested

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“…It is thought that female babies are at higher risk due to their susceptibility to the maternal hormone relaxin, which may contribute to ligamentous laxity in the hip joint (Maclennan and Maclennan, 1997). There is limited information on what genes may be responsible for the familial incidence of DDH, with most studies proposing an association between a genetic or chromosome variant and DDH being focussed on individual families or single ethnicities (Dai et al, 2008;Feldman et al, 2010;Feldman et al, 2012;Hao et al, 2014;Rouault et al, 2010;Tian et al, 2012), limiting their impact on the wider population. However, evidence that GDF-5 may be linked with DDH has been revealed for both Chinese Han (Dai et al, 2008) and western Brittany (Rouault et al, 2010) patient groups.…”

Section: Risk Factorsmentioning

confidence: 99%

Biomechanics of foetal movement

Nowlan¹

2015

eCM

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Foetal movements commence at seven weeks of gestation, with the foetal movement repertoire including twitches, whole body movements, stretches, isolated limb movements, breathing movements, head and neck movements, jaw movements (including yawning, sucking and swallowing) and hiccups by ten weeks of gestational age. There are two key biomechanical aspects to gross foetal movements; the first being that the foetus moves in a dynamically changing constrained physical environment in which the freedom to move becomes increasingly restricted with increasing foetal size and decreasing amniotic fluid. Therefore, the mechanical environment experienced by the foetus affects its ability to move freely. Secondly, the mechanical forces induced by foetal movements are crucial for normal skeletal development, as evidenced by a number of conditions and syndromes for which reduced or abnormal foetal movements are implicated, such as developmental dysplasia of the hip, arthrogryposis and foetal akinesia deformation sequence. This review examines both the biomechanical effects of the physical environment on foetal movements through discussion of intrauterine factors, such as space, foetal positioning and volume of amniotic fluid, and the biomechanical role of gross foetal movements in human skeletal development through investigation of the effects of abnormal movement on the bones and joints. This review also highlights computational simulations of foetal movements that attempt to determine the mechanical forces acting on the foetus as it moves. Finally, avenues for future research into foetal movement biomechanics are highlighted, which have potential impact for a diverse range of fields including foetal medicine, musculoskeletal disorders and tissue engineering.Keywords: Foetal movement, fetal movement, bone development, joint development, developmental dysplasia of the hip, arthrogryposis, biomechanical models, computational simulation, mechanical properties of foetal tissues, mechanical properties of fetal tissues.

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Association analysis between HOXD9 genes and the development of developmental dysplasia of the hip in Chinese female Han population

Cited by 27 publications

References 19 publications

Severe cartilage degeneration in patients with developmental dysplasia of the hip

Severe cartilage degeneration in patients with developmental dysplasia of the hip

Association analysis of interleukin‐23 receptor SNPs and SAPHO syndrome in Chinese people

Biomechanics of foetal movement

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