Aim of this study: Osteoporosis is a systemic skeletal disease characterized by compromised bone structure andresistance and by an increased risk of fracture especially in postmenopausal women. Multiple factors includinghormonal, environmental and genetic factors are involved in osteoporosis development and clinical outcome. It hasbeen shown that Klotho and insulin-like growth factor-1 (IGF-1) have a significant effect on aging and osteoporosisrisk. Actually, Insulin-like growth factor-1 (IGF-1) is a critical polypeptide that plays an important role in theregulation of bone metabolism, which promotes bone cell growth, differentiation, cell cycle progression. Klothomodulates aging in mice and humans, Klotho membrane-bound protein serves as a co-receptor required for thefibroblast growth factor 23 (FGF23), the link between Klotho and FGF23 creates a negative feedback that blocks theenzyme that converts 25-hydroxy Vitamin D to the active form (1,25 dihydroxy Vitamin D). Thus, klotho andFGF23 may function in a common signal transduction pathway in maintaining mineral ion homeostasis. Consideringthat some gene variant might influence production level and function of these mediators, we have started theevaluation of associations among IGF-1, IGF-1R and Klotho 1 SNPs and osteoporosis risk. Methods: In thispreliminary approach, a total of 20 women with diagnosis of osteoporosis confirmed by radiograph or DEXA scanand a total of 72 healthy control women were included in the study. For the genetic analysis, peripheral bloodsamples were collected and genomic DNA was extracted from leukocytes. Genotypic analysis of polymorphisms ofKlotho 1 (rs577912), IGF-1(rs35767), IGF-1R was conducted using a competitive allele specific PCR assays(KASpar) developed by Kbioscence. Genotype and allele frequencies were compared by statistical analysis usingdominant, codominant, and recessive models. Results: In our study, the analysis of genotypic and allelic frequencieshas highlighted, that IGF-I rs35767 genotypes positive for T allele are more represented in cases than in controls andcould be associated with susceptibility to osteoporosis (P = 0.0327 OR= 4.529; 95% C.I.: 1.27 - 16.1). Instead, theSNP of Klotho 1 and IGF-I R have in our case subjects a frequency not different from that of the controls.Discussion and Conclusion: Our results are in full agreement with those from Zhang et al. (Genet Mol Res. 2015;14: 7655-60) reporting association of T+ genotypes of rs35767 with lower BMD levels in the femoral neck. Thispreliminary result suggests that polymorphism in IGF-I rs35767 might play a role in osteoporosis risk and could beconsidered a potential indicator for risk of osteoporosis in postmenopausal women.
Lingua originaleEnglish
Numero di pagine1
Stato di pubblicazionePublished - 2016

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