The Nemours Foundation

Other

Drexel University

Loretta D Spotila

Katia Sol-Church

Marcella Devoto

Darwin J Prockop

James M Early

Leena M Ala-Kokko

Michael Pack

Alain Colige

Jarmo K&ouml;rkk&ouml;

Susanna Annunen

Mirko Vuoristo

Larisa Sereda

Petteri Paassilta

Andrea Westerhausen Larson

Tero Pihlajamaa

Constantinos D Deltas

The invention provides methods and compositions for diagnosing risk of low BMD and risk of osteoporosis based on the detection of SNP identity for human chromosome 1p36 polymorphisms designated in the NCBI SNP database (dbSNP) as rs2794328, rs446529, rs397559 and rs1802353.

Chromosome 1p36 polymorphisms and low bone mineral density

Methods and kits for identifying individuals at risk of developing osteoporosis are provided. These methods and kits are based on detecting the presence of polymorphisms in the tumor necrosis factor alpha 2 receptor gene associated with low bone density and the risk of developing osteoporosis.

Methods for identifying individuals at risk of developing osteoporosis

Compositions and methods useful for determining whether a subject has an alteration in a gene encoding a protein chain of Type I or Type IX collagen are described. Novel intronic sequences of five human genes, COL1A1, COL1A2, COL9A1, COL9A2, and COL9A3 are described. Methods of determining the existence in a subject of a pathological condition associated with an altered gene encoding a Type I or Type IX collagen protein chain are provided, wherein such pathological conditions include diseases and disorders which are known to be associated with an altered gene encoding a Type I or Type IX collagen protein chain. Primers, probes, and methods of detecting a genetic predisposition of a subject for a pathological condition associated with an altered gene encoding a Type I or Type IX collagen protein chain are provided. Diseases and disorders for which the methods and compositions of the invention are useful for diagnostic or prognostic purposes include, but are not limited to osteoporosis, osteoarthritis, chondrodysplasia, multiple epiphyseal dysplasia, osteogenesis imperfecta, shortness of stature, scoliosis, low bone density, and degenerative joint disease.

Compositions and methods for detecting altered COL1A1 gene sequences

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Haddonfield, NJ, United States of America

Loretta D Spotila