Article
Polymorphisms in the P2X7 receptor gene are associated with low lumbar spine bone mineral density and accelerated bone loss in post-menopausal women.
European journal of human genetics : EJHG - 1 May 2012
Gartland Alison, Skarratt Kristen K, Hocking Lynne J, Parsons Claire, Stokes Leanne, Jørgensen Niklas Rye, Fraser William D, Reid David M, Gallagher James A, Wiley James S
Abstract excerpt
The P2X7 receptor gene (P2RX7) is highly polymorphic with five previously described loss-of-function (LOF) single-nucleotide polymorphisms (SNP; c.151+1G>T, c.946G>A, c.1096C>G, c.1513A>C and c.1729T>A) and one gain-of-function SNP (c.489C>T). The purpose of this study was to determine whether the functional P2RX7 SNPs are associated with lumbar spine (LS) bone mineral density (BMD), a key determinant of...
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