Association of multiple nucleotide variations in the pituitary glutaminyl cyclase gene (QPCT) with low radial BMD in adult women

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
Yoichi EzuraMitsuru Emi

Abstract

Correlation between 13 genetic variations of the glutaminyl-peptide cyclotransferase gene and adjusted aBMD was tested among 384 adult women. Among 13 variations with strong linkage disequilibrium, R54W showed a prominent association (p = 0.0003), which was more striking when examined among 309 elder subjects (> or =50 years; p = 0.0001). Contribution for postmenopausal bone loss was suggested. Alterations in homeostatic regulation of estrogen through the hypothalamus-pituitary-gonadal axis (HPG axis) importantly affect the pathogenesis of osteoporosis. Osteoporosis-susceptibility genes have been proposed in this hormonal axis, such as estrogen receptor genes and the gonadotropin-releasing hormone gene (GnRH). Here we report another example of genes: glutaminyl-peptide cyclotransferase gene (QPCT), an essential modifier of pituitary peptide hormones, including GnRH. Analyses of association of 13 single nucleotide polymorphisms (SNPs) at the QPCT locus with adjusted areal BMD (adj-aBMD) were carried out among 384 adult women. Linkage disequilibrium (LD) was analyzed by haplotype estimation and calculation of D' and r2. Multiple regression analysis was applied for evaluating the combined effects of the variations. LD analysis ind...Continue Reading

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Citations

Sep 2, 2005·Proceedings of the National Academy of Sciences of the United States of America·Kai-Fa HuangAndrew H-J Wang
Dec 4, 2012·The Journal of Infectious Diseases·Annelie HellvardPiotr Mydel
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Aug 11, 2010·Journal of Bone and Mineral Metabolism·Takayuki Hosoi
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Sep 26, 2006·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Yong-Jun LiuHong-Wen Deng
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