Genetic markers for paget's disease
AssigneeThe University Court of the University of Edinburgh
InventorsStuart H. Ralston, Omar Albagha
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Abstract
The present invention is based on the identification of a number of genetic markers that are associated with susceptibility to Paget's disease of bone (PDB). This invention provides details of markers and nucleotide sequences as well as associated proteins/peptides and/or compositions and methods, for use in treating, preventing and/or detecting/diagnosing PDB and/or a susceptibility/predisposition thereto.
Claims25
1-15. (canceled)
A method of diagnosing Paget's disease of bone (PDB) or identifying an altered risk of developing PDB in a subject, said method comprising the steps of probing a sample provided by said subject, for sequence variations at or within one or more of the chromosomal loci selected from the group consisting of:
- (i) 10p13;
- (ii) 1p13.3;
- (iii) 18q21;
- (iv) 8q22.3;
- (v) 7q33;
- (vi) 14q32.12;
- (vii) 15q24.1;
- (viii) 6p22.3;
- and
- (ix) Xq24;
- wherein sequence variants are detected by comparison with a reference sequence and subjects identified as harbouring sequence variations at or within one or more of the chromosomal loci (i)-(ix), may have Paget's disease of bone (PDB) or may be at an altered risk of developing PDB.
A method of treating PDB, said method comprising administering a therapeutically effective amount of one or more of the genes or polynucleotides selected from the group consisting of:
- (i) OPTN;
- (ii) CSF1;
- (iii) TNFRSF11A;
- (iv) TM7SF4;
- (v) RIMS2;
- (vi) DPYS;
- (vii) CNOT4;
- (viii) NUP205;
- (ix) SLC13A4;
- (x) RIN3;
- (xi) PML;
- (xii) PRL;
- (xiii) SLC25A4;
- and
- (xiv) a polynucleotide fragment of any (i)-(xiii).
A method of treating or preventing PDB, said method comprising the step of administering a therapeutically effective amount of an antisense sequence, wherein said antisense sequences modulate the expression of one or more of the genes selected from the group consisting of:
- (i) OPTN;
- (ii) CSF1;
- (iii) TNFRSF11A;
- (iv) TM7SF4;
- (v) RIMS2;
- (vi) DPYS;
- (vii) CNOT4;
- (viii) NUP205;
- (ix) SLC13A4;
- (x) RIN3;
- (xi) PML;
- (xii) PRL;
- and
- (xiii) SLC25A4.
A kit for identifying a variant 1p13.3, 10p13, 18q21, 8q22.3, 7q33, 14q32.12, 15q24.1, 6p22.3 and/or Xq24 sequence in a sample, said kit comprising pairs of oligonucleotide primers for amplifying a variant nucleotide sequence at or within one or more the chromosomal loci selected from the group consisting of:
- (i) 1p13.3;
- (ii) 10p13;
- (iii) 18q21;
- (iv) 8q22.3;
- (v) 7q33;
- (vi) 14q32.12;
- (vii) 15q24.1;
- (viii) 6p22.3;
- and
- (ix) Xq24;
Dependencies are inferred from the claim text.