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. 2008 Apr;466(4):878-83.
doi: 10.1007/s11999-008-0120-z. Epub 2008 Feb 21.

Exclusion of COL2A1 and VDR as developmental dysplasia of the hip genes

Michele Rubini  1 , Alessandra Cavallaro, Elisa Calzolari, Giulia Bighetti, Vincenzo Sollazzo
Affiliations

Exclusion of COL2A1 and VDR as developmental dysplasia of the hip genes

Michele Rubini et al. Clin Orthop Relat Res. 2008 Apr.

Abstract

Developmental dysplasia of the hip (DDH) is a spectrum of disorders affecting the proximal femur and/or acetabulum leading to an abnormal formation of the hip. Genetic factors are involved in the etiology of DDH. Early recognition of DDH affords the best results from treatment and a better knowledge of the genetics of DDH could enhance early diagnosis. Variants in the Type II collagen (COL2A1) and vitamin D receptor (VDR) genes have been associated with patients with osteoarthritis of the hip secondary to DDH, suggesting these genes could contribute to DDH. To see whether there was linkage between the COL2A1/VDR locus and nonsyndromic DDH, we conducted a linkage study on 11 families with multiple cases of DDH. We demonstrated no evidence of linkage between the COL2A1/VDR locus and nonsyndromic DDH (LOD score < -2), suggesting, although variants in these genes could play a role in osteoarthritis in patients with DDH, they do not contribute to nonsyndromic DDH. The search for causal gene variants should proceed with other candidates.

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Figures

Fig. 1
Fig. 1
The position of the COL2A1 and VDR genes is relative to flanking markers in the 9.6-cM interval between D12S1663 and D12S368. Physical distances (in Mb) are indicated below the horizontal line.
Fig. 2
Fig. 2
Multipoint LOD scores across the D12S1663 and D12S368 interval on 12q were calculated using Genehunter 2.1 software (Whitehead Institute for Biomedical Research, Cambridge, MA). Distances are shown in cM. When an autosomal-dominant model with penetrance values of 75% and 50% was used, the LOD scores were less than −2, thus excluding linkage. When a penetrance value of 25% was used, the LOD score was widely negative.
Fig. 3
Fig. 3
Multipoint LOD scores across the D12S1663 and D12S368 interval on 12q were calculated using Genehunter. Distances are shown in cM. When an autosomal-recessive model with penetrance values of 75%, 50%, or 25% was used, the LOD scores were less than −2, thus excluding linkage.
Fig. 4
Fig. 4
Nonparametric LOD scores across the D12S1663 and D12S368 interval on 12q were calculated using Genehunter. Distances are shown in cM. A z value of −0.7 was found at the COL2A1/VDR locus, making it improbable there is a contribution of the COL2A1 and VDR genes in the etiology of DDH.
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