OBJECTIVECharcot neuroarthropathy is a disabling complication of diabetes. Although its pathogenesis remains unknown, we suppose that genetics may play a relevant role.RESEARCH DESIGN AND METHODSWe performed a case-control study with 59 subjects with diabetic Charcot neuroarthropathy (Ch group), 41 with diabetic neuropathy without Charcot neuroarthropathy (ND group), and 103 healthy control subjects (H group) to evaluate the impact of two single nucleotide polymorphisms (SNPs) of the osteoprotegerin gene (G1181C and T245G) on the risk of Charcot neuroarthropathy.RESULTSRegarding the SNPs of G1181C, we found a significant linkage between the G allele and Charcot neuroarthropathy (Ch vs. ND, odds ratio [OR] 2.32 [95% CI 1.3–4.1], P = 0.006; Ch vs. H, 2.10 [1.3–3.3], P = 0.002; and ND vs. H, 0.90 [0.7–1.9], P = 0.452); similarly, we found a linkage with the G allele of T245G (Ch vs. ND, 6.25 [2.2–19.7], P < 0.001; Ch vs. H, 3.56 [1.9–6.7], P = 0.001; and ND vs. H, 0.54 [0.6–5.7], P = 0.304), supporting a protective role for the allele C and T, respectively. For this reason we investigated the frequency of the protective double homozygosis CC + TT (7% in Ch) that was significantly lower in Ch compared with H (0.18 [0.06–0.5], P = 0.002) and with ND (0.17 [0.05–0.58], P = 0.006), whereas there was no difference between H and ND (1.05 [0.43–2.0], P = 0.468). In a multivariate logistic backward regression model, only weight and the lack of CC and TT genotypes were independently associated with the presence of Charcot neuroarthropathy.CONCLUSIONSThis is the first study that shows an association between genetic regulation of bone remodeling and Charcot neuroarthropathy.
worse outcome, with a higher rate of disease recurrence and a higher disease-specific mortality [7]. TERT promoter mutations have been investigated in papillary (PTC), follicular (FTC), poorly differentiated (PDTC), and anaplastic (ATC) thyroid carcinomas with a prevalence of 7.5, 17.1, 29, and 33 %, respectively [8]. Noteworthy, to date no TERT mutation has been reported in non-neoplastic thyroid tissue [1]. While TERT mutations have not been generally reported in thyroid adenomas, a single study described the presence of the C228T mutation in follicular adenomas, mainly the atypical subtype. Due to the potential development into FTC of this type of lesions, TERT promoter mutations could represent an early genetic event in thyroid follicular tumors that do not yet reveal malignant features on routine histopathological workup [9]. On the basis of these recent data, the assessment of the presence of TERT mutations could hold a main role in the clinical diagnosis and management of thyroid cancer patients.
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