Genome-wide Copy-Number-Variation Study Identified a Susceptibility Gene, UGT2B17, for Osteoporosis
Tie-Lin Yang, Xiang-Ding Chen, Yan Guo, Shu-Feng Lei, Jin-Tang Wang, Qi Zhou, Feng Pan, Yuan Chen, Zhi-Xin Zhu, Teng Chen, Meng Li, Hong Zhang, Liang Zhang, Betty M Drees, James J Hamilton, Christopher J Papasian, Robert R Recker, Xiao-Ping Song, Jing Cheng, Hong-Wen Deng
American Journal of Human Genetics2008
Summary (paraphrased)
A genome-wide copy-number-variation (CNV) analysis in 700 elderly Chinese subjects (350 hip-fracture cases, 350 controls) found that CNV at 4q13.2, encompassing the UGT2B17 gene, was significantly associated with osteoporotic fracture, replicated in an independent Chinese sample and associated with hip bone-mineral density in Chinese and white cohorts. Because UGT2B17 encodes an enzyme that catabolizes steroid hormones, the authors measured serum testosterone and estradiol in 236 young Chinese males and found that men lacking UGT2B17 copies had significantly higher testosterone and estradiol levels, tying the CNV to sex-steroid exposure.
Why it’s in the corpus
Directly on point for the corpus: UGT2B17 is the gene Dr Will Powers theorizes as the 'base, core defect' in PFS (DWP-003), and this paper demonstrates that UGT2B17 copy-number variation alters systemic testosterone/estradiol levels — the same steroid-hormone clearance mechanism implicated in post-drug syndrome pathophysiology.
Related records
- Powers · Reddit post
I think I have figured out at least one specific phenotype of PFS, and it is different from the "allopregnanolone" theory
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UGT2B17 — defective (major)
Confidence: direct
A defective UGT2B17 disables the main glucuronidation exit pathway for testosterone — the "base, core defect" of this PFS phenotype. Carriers show shockingly low 3α-androstanediol glucuronide and near-zero urinary testosterone on DUTCH despite normal serum T…
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Multiple roles for UDP-glucuronosyltransferase (UGT)2B15 and UGT2B17 enzymes in androgen metabolism and prostate cancer evolution
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