Erasmus Universiteit Rotterdam

Celltech R&d Limited

Century Technology, Inc.

Andreas Gerardus Uitterlinden

Johannes Petrus Thomas Maria Van Leeuwen

Huibert Adriaan Pieter Pols

Mary E Brunkow

Bryan W Paeper

Sean Proll

Patrick R Charmley

Compositions and methods are provided for determining in a subject a risk for having, or presence of, altered bone mineral density such as osteoporosis or osteopenia or other conditions characterized by decreased or increased bone density. Specifically, the invention relates to determination of a sclerostin gene region nucleotide polymorphism (SRP) in DNA of the sclerostin gene region of human chromosome 17. In certain embodiments, SRPs that indicate an increased risk for altered bone mineral density occur as gender-associated polymorphisms. Isolated polynucleotides comprising representative SRPs are also provided.

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In one aspect, the present invention provides methods of determining susceptibility to bone fracture in a mammalian subject, wherein the methods comprise analyzing nucleic acid molecules obtained from the mammalian subject to determine which of the P, p X, and x alleles of the estrogen receptor &#x3b1; gene are present, wherein the presence of a haplotype comprising the p and x alleles is indicative of an increased susceptibility to bone fracture. The present invention also provides kits for determining susceptibility to bone fracture in a mammalian subject.

Estrogen receptor alleles that are predictive of increased susceptibility to bone fracture

The present invention relates to prognostic method and means for determining susceptibility to heart disease in a subject by screening for polymorphisms in the Vitamin D receptor gene. In particular, the present invention provides a method for determining susceptibility to heart disease, the method comprising analysing the genetic material of a subject to determine which of the B/b, A/a or T/t alleles of the restriction enzyme sites BsmI, ApaI and TaqI respectively are present. Specific combinations of alleles represent a haplotype which is associated with susceptibility to heart disease.

Method for determining susceptibility to heart disease by screening polymorphisms in the vitamin D receptor gene

The present invention relates to a prognostic method and means for determining susceptibility to bone damage in a subject, by screening for polymorphisms in the Vitamin D receptor or collagen I&agr;1 genes. In particular, the method for determining susceptibility to bone damage comprises analyzing the genetic material of a subject to determine which of the B/b, A/a or T/t alleles of the restriction enzyme sites BsmI, ApaI and TaqI respectively are present. The method may further comprise determining which allele is present at die SpI restriction site of the collagen I&agr;1 gene. Specific combinations of the above alleles represent a haplotype which is associated with susceptibility to bone damage.

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Poortugaal, Netherlands

Andreas Gerardus Uitterlinden