RESUMEN
Candidate gene studies have analyzed the effect of specific vitamin D pathway genes on vitamin D availability; however, it is not clear whether genetic variants also affect overall bone metabolism. This study evaluated the association between genetic polymorphisms in GC, CYP2R1 and CYP24A1 and serum levels of total 25(OH)D, iPTH and other mineral metabolism biomarkers (albumin, total calcium and phosphorus) in a sample of 273 older Spanish adults. We observed a significant difference between CYP2R1 rs10741657 codominant model and total 25(OH)D levels after adjusting them by gender (p = 0.024). In addition, the two SNPs in the GC gene (rs4588 and rs2282679) were identified significantly associated with iPTH and creatinine serum levels. In the case of phosphorus, we observed an association with GC SNPs in dominant model. We found a relationship between haplotype 2 and 25(OH)D levels, haplotype 4 and iPTH serum levels and haplotype 7 and phosphorus levels. In conclusion, genetic variants in CYP2R1 and GC could be predictive of 25(OH)D and iPTH serum levels, respectively, in older Caucasian adults. The current study confirmed the role of iPTH as one of the most sensitive biomarkers of vitamin D activity in vivo.
Asunto(s)
Densidad Ósea/genética , Colestanotriol 26-Monooxigenasa/genética , Familia 2 del Citocromo P450/genética , Haplotipos , Hormona Paratiroidea/sangre , Proteína de Unión a Vitamina D/genética , Vitamina D3 24-Hidroxilasa/genética , Vitamina D/análogos & derivados , Anciano , Anciano de 80 o más Años , Calcio/sangre , Creatinina/sangre , Estudios Transversales , Femenino , Humanos , Masculino , Fósforo/sangre , Polimorfismo de Nucleótido Simple , Albúmina Sérica/análisis , Factores Sexuales , Vitamina D/sangre , Población BlancaRESUMEN
As longevity is increasing, the 65-year-old and older population is projected to increase in the next decades, as are the consequences of age-related muscle deterioration on the quality of life. The purpose of this study was to examine the associations of the ACTN3R577X polymorphism with quality of life and muscular strength in an older Spanish population. In total, 281 older adults participated in this study. Anthropometric measurements, chronic diseases, prescribed medications, quality of life, hand grip strength, and physical activity and nutritional status data were collected. ACTN3 R577X genotyping was determined using Taqman probes. Multivariate regression analysis revealed in adjusted model that, in men, the ACTN3 R577X genotype was significantly associated with hand grip strength (HGS), regression coefficient (ß) = 1.23, p = 0.008, dimension 1 of the five-dimension questionnaire EuroQoL (EQ-5D, mobility), (ß) = -1.44, p = 0.006, and clinical group risk (CGR) category (ß) = -1.38, p = 0.006. In women, a marginal association between the ACTN3 R577X genotype and the CGR category was observed, with a regression coefficient of (ß) = -0.97, (p = 0.024). Our findings suggest that the ACTN3 R577X genotype may influence the decline in muscle strength and quality of life in older Spanish adult males.