Developmental dysplasia of the hip is the result of a disruption in the normal relationship between the acetabulum and femoral head. The etiology of nonsyndromic developmental dysplasia of the hip is largely unknown, but there is clear evidence genetic factors play a role in the etiology. Early recognition of developmental dysplasia of the hip affords the best results from treatment and a better knowledge of the genetics of developmental dysplasia of the hip could enhance early diagnosis. Gene variants in Type II collagene and vitamin D receptor genes have been associated with patients with osteoarthritis of the hip secondary to developmental dysplasia of the hip. To explore the role of the Type II collagene gene/vitamin D receptor locus in nonsyndromic developmental dysplasia of the hip, we designed a linkage study on a group of 11 families with recurrence of developmental dysplasia of the hip. Our data show no evidence of linkage between the Type II collagene gene/vitamin D receptor locus and nonsyndromic developmental dysplasia of the hip suggesting although variants in these genes could play a role in osteoarthritis in patients with developmental dysplasia of the hip, they do not contribute to the nonsyndromic developmental dysplasia of the hip.

Exclusion of COL2A1 and VDR as Developmental Dysplasia of the Hip Genes

RUBINI, Michele;CAVALLARO, Alessandra;CALZOLARI, Elisa;BIGHETTI, Giulia;SOLLAZZO, Vincenzo
2008

Abstract

Developmental dysplasia of the hip is the result of a disruption in the normal relationship between the acetabulum and femoral head. The etiology of nonsyndromic developmental dysplasia of the hip is largely unknown, but there is clear evidence genetic factors play a role in the etiology. Early recognition of developmental dysplasia of the hip affords the best results from treatment and a better knowledge of the genetics of developmental dysplasia of the hip could enhance early diagnosis. Gene variants in Type II collagene and vitamin D receptor genes have been associated with patients with osteoarthritis of the hip secondary to developmental dysplasia of the hip. To explore the role of the Type II collagene gene/vitamin D receptor locus in nonsyndromic developmental dysplasia of the hip, we designed a linkage study on a group of 11 families with recurrence of developmental dysplasia of the hip. Our data show no evidence of linkage between the Type II collagene gene/vitamin D receptor locus and nonsyndromic developmental dysplasia of the hip suggesting although variants in these genes could play a role in osteoarthritis in patients with developmental dysplasia of the hip, they do not contribute to the nonsyndromic developmental dysplasia of the hip.
Rubini, Michele; Cavallaro, Alessandra; Calzolari, Elisa; Bighetti, Giulia; Sollazzo, Vincenzo
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11392/519732
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