Evidence of association between GDF5 polymorphisms and congenital dislocation of the hip in a Caucasian population

Rouault, Karen; Scotet, Virginie; Autret, S.; Gaucher, François; Dubrana, F.; Tanguy, D.; Rassi, C. Yaacoub El; Fénoll, B.; Férec, Claude

doi:10.1016/j.joca.2010.05.018

Cited by 64 publications

(55 citation statements)

References 45 publications

(32 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Our data have shown that polymorphism exist in the GDf-5 (BsiE1) gene in North Indian population. The frequency of T allele in our population (55%) was similar to that reported in Caucasians (59-63 %) (Rouault et al, 2010;Southam et al, 2007;Tsezou et al, 2008;Valdes and Spector, 2009) the oriental population carry relatively higher frequency (70-74%) of variant T allele (Shin et al, 2012;Cao et al, 2010;Dai et al, 2008;Miyamoto et al, 2007).…”

Section: Discussionsupporting

confidence: 87%

“…The reduced activity of GDF5 may inhibit the process of early cartilage differentiation (Hatakeyama et al, 2004). Genetic variations in the GDF5 locus have been reported to be involved in the pathogenesis of rheumatoid arthritis and to influence human height, hip axis length and fracture risk in the elderly (Rouault et al, 2010;Vaes et al, 2009). Furthermore, association of variant T allele with other musculoskeletal phenotypes, including variation in Achilles tendon pathology, fracture risk and congenital dysplasia of the hip, has also been reported (Posthumus et al, 2010;Sanna et al, 2008).…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Association of Polymorphism in Growth and Differentiation Factor 5 Gene With Osteoarthritis Knee

Mishra¹,

Sanghi²,

Sharma³

et al. 2013

American Journal of Biochemistry and Biotechnology

View full text Add to dashboard Cite

The present study investigated to identify the association of polymorphism in GDF-5 gene with osteoarthritis in North Indian population. In a case-control study, 300 cases with knee osteoarthritis and an equal number of age and gender matched healthy controls were included. Cases were diagnosed using the ACR Guidelines of Knee Osteoarthritis (KOA). Clinical symptoms were assessed with the knee specific WOMAC index and VAS for knee pain. The severity of disease was determined by radiological KL grades (Kellgren Lawren). The variant genotype of GDF-5 was found to be present at significantly higher frequency in cases than in controls, resulting in about 1.79 fold increase in risk to OA. Genotype distributions of the GDF-5 also showed significant association of variant allele with clinical score of OA patients. An association between the+104T/C GDF5 polymorphism with knee OA and clinical symptom of OA in Indian population further demonstrate a strong genetic influence of this SNP in KOA.

show abstract

Section: Discussionsupporting

confidence: 87%

Section: Discussionmentioning

confidence: 99%

Association of Polymorphism in Growth and Differentiation Factor 5 Gene With Osteoarthritis Knee

Mishra¹,

Sanghi²,

Sharma³

et al. 2013

American Journal of Biochemistry and Biotechnology

View full text Add to dashboard Cite

show abstract

“…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%

“…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. Intriguingly, abnormal GDF-5 expression has been shown in the elbow joints of immobile "muscleless limbs" mouse embryos (Kahn et al, 2009), which undergo aberrant shape morphogenesis (Kahn et al, 2009;Nowlan et al, 2010a).…”

Section: Risk Factorsmentioning

confidence: 99%

Biomechanics of foetal movement

Nowlan¹

2015

eCM

View full text Add to dashboard Cite

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.

show abstract

“…Previously, other SNPs have been shown to be associated with DDH development [5,6], but this is the first time to suggest association between another two SNPs (rs224332 and rs224333) and DDH.…”

mentioning

confidence: 88%

Two single nucleotide polymorphisms in the GDF5 gene are associated with development dysplasia of the hip in Chinese female population

Zhao

Pan

Wang

et al. 2013

Sci. China Life Sci.

View full text Add to dashboard Cite

Evidence of association between GDF5 polymorphisms and congenital dislocation of the hip in a Caucasian population

Cited by 64 publications

References 45 publications

Association of Polymorphism in Growth and Differentiation Factor 5 Gene With Osteoarthritis Knee

Association of Polymorphism in Growth and Differentiation Factor 5 Gene With Osteoarthritis Knee

Biomechanics of foetal movement

Two single nucleotide polymorphisms in the GDF5 gene are associated with development dysplasia of the hip in Chinese female population

Contact Info

Product

Resources

About