Do HOXB9 and COL1A1 genes play a role in congenital dislocation of the hip? Study 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.2008.12.012

Cited by 29 publications

(22 citation statements)

References 39 publications

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“…In a small pilot genetic association study, Rouault and coinvestigators recently found no association of DDH with HOXB9 and COL1A1 in a small regional French population in which the incidence of this disorder was elevated [27]. Although an intriguing preliminary observation, the limited geographic sampling of this study does not preclude either of the genes playing a causative role in other populations.…”

Section: Discussionmentioning

confidence: 50%

The Otto Aufranc Award: Identification of a 4 Mb Region on Chromosome 17q21 Linked to Developmental Dysplasia of the Hip in One 18-member, Multigeneration Family

Feldman

Dalsey

Fertala

et al. 2010

Clinical Orthopaedics &Amp; Related Research

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Developmental dysplasia of the hip (DDH) is a disabling condition that, depending on geography, can afflict between 20% and 80% of patients with end-stage arthritis of the hip. Despite its prevalence, the etiology of this disease remains unknown. DDH is a complex disorder with both environmental and genetic causes. Based on the literature the candidate genes for the disease are HOXB9, collagen type I alpha1, and DLX 3. The purpose of our study was to map and characterize the gene or genes responsible for this disorder by family linkage analysis. We recruited one 18-member, multigeneration affected family to provide cheek swabs and blood samples for isolation of DNA. Amplified DNA underwent a total genome scan using GeneChip Mapping 250 K Assay (Affymetrix, Santa Clara, CA). We observed only one region with a LOD score greater than 1.5: a 4 Mb region on chromosome 17q21.32, yielding a LOD score of 1.82. While a LOD score of 1.82 does not meet the accepted standard for linkage we interpret these data as suggesting the responsible gene could be linked to this region, which includes a cluster of homeobox genes (HOX genes) that are part of the developmental regulatory system providing cells with specific positional identities along the developing joint and spine. Discovering the genetic basis of the disease would be an important step in understanding the etiology of this disabling condition.

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Section: Discussionmentioning

confidence: 50%

The Otto Aufranc Award: Identification of a 4 Mb Region on Chromosome 17q21 Linked to Developmental Dysplasia of the Hip in One 18-member, Multigeneration Family

Feldman

Dalsey

Fertala

et al. 2010

Clinical Orthopaedics &Amp; Related Research

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“…The Independent-Samples T test was used to determine differences according to age, and the chisquare or Fisher's exact test was performed to calculate the clinical parametric distributions. Unconditional logistic regression analysis models were used to evaluate the relationships between different genotypes and disease risk [Odds ratios (OR), 95% confidence intervals (95% CI)] adjusted by age and gender [23,24]. To account for multiple testing, Bonferroni correction was applied.…”

Section: Methodsmentioning

confidence: 99%

COL9A1 Gene Polymorphism Is Associated with Kashin-Beck Disease in a Northwest Chinese Han Population

Shi

Zhang

et al. 2015

PLoS ONE

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ObjectiveWe sought to determine whether genomic polymorphism in collagen IX genes (COL9A) was associated with Kashin-Beck disease (KBD).MethodsTwenty seven single nucleotide polymorphisms (SNPs) in COL9AI, COL9A2 and COL9A3 were genotyped in 274 KBD cases and 248 healthy controls using the Sequenom MassARRAY system. Associations between the COL9A polymorphism and KBD risk were detected using an unconditional logistic regression model. Linkage disequilibrium (LD) and haplotypes analysis were performed with the Haploview software.ResultsAfter Bonferroni correction, the frequency distribution of genotypes in rs6910140 in COL9A1 was significantly different between the KBD and the control groups (X 2 = 16.74, df = 2, P = 0.0002). Regression analysis showed that the allele “C” in SNP rs6910140 had a significant protective effect on KBD [odds ratio (OR) = 0.49, 95% confidence interval (CI) = 0.34–0.70, P = 0.0001]. The frequencies of alleles and genotypes in rs6910140 were significantly different among subjects of different KBD stages (allele: X 2 = 7.82, df = 2, P = 0.02, genotype: X 2 = 14.81, df = 4, P = 0.005). However, haplotype analysis did not detect any significant association between KBD and COL9A1, COL9A2 and COL9A3.ConclusionsWe observed a significant association between rs6910140 of COL9A1 and KBD, suggesting a role of COL9A1 in the development of KBD.

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“…Homeobox B9 (HoxB9), a transcription factor, belongs to the products of homeobox (Hox) transcription factor gene family and is known to regulate transcription of CD56 and to promote tumorigenicity and metastasis in some malignancies [16][17][18][19]. Its expression is critical for embryonic segmentation and limb patterning during embryogenesis, and dysregulated expression has been observed in certain malignancies [20][21][22][23].…”

Section: Introductionmentioning

confidence: 99%

Silencing of homeobox B9 is associated with down-regulation of CD56 and extrathyroidal extension of tumor in papillary thyroid carcinoma

Kim

Han

et al. 2012

Human Pathology

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Do HOXB9 and COL1A1 genes play a role in congenital dislocation of the hip? Study in a Caucasian population

Abstract: Our study did not support an association between HOXB9 and COL1A1 and CDH in our population. These negative findings were obtained by population- and family-based designs. Analysis of the genetic component of CDH should focus on other candidate genes.

Cited by 29 publications

References 39 publications

The Otto Aufranc Award: Identification of a 4 Mb Region on Chromosome 17q21 Linked to Developmental Dysplasia of the Hip in One 18-member, Multigeneration Family

The Otto Aufranc Award: Identification of a 4 Mb Region on Chromosome 17q21 Linked to Developmental Dysplasia of the Hip in One 18-member, Multigeneration Family

COL9A1 Gene Polymorphism Is Associated with Kashin-Beck Disease in a Northwest Chinese Han Population

Silencing of homeobox B9 is associated with down-regulation of CD56 and extrathyroidal extension of tumor in papillary thyroid carcinoma

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