Abstract
Background: Due to the increased prevalence of osteoporosis and direct health care cost of osteoporosis-related fractures, there is a growing interest in identifying genetic markers associated with osteoporosis phenotypes in order to develop genetic screening strategies. We aimed to analyze the possible associations between calcaneal Quantitative ultrasound (QUS), a valuable screening tool for assessing bone status in clinical practice, and ZBTB40 (rs7524102, rs6426749), SP7 (rs2016266) and AKAP11 (rs9533090) genes. Methods: A cross-sectional study was conducted on 550 healthy individuals of Caucasian ancestry (381 females and 169 males, median age 20.46±2,69). Bone mass was assessed through QUS to determine broadband ultrasound attenuation (BUA, dB/MHz). Single-nucleotide polymorphisms (SNPs) in ZBTB40 (rs7524102, rs6426749), SP7 (rs2016266) and AKAP11 (rs9533090) were selected as genetic markers and genotyped using TaqMan OpenArray® technology. Results: Linear regression analysis revealed that rs7524102 and rs6426749 in ZBTB40, and rs9533090 in AKAP11 were significantly associated with the calcaneal QUS parameter after adjustments for age, sex, weight, height, physical activity, and calcium intake (p=0.038, p=0.012 and p=0.008, respectively). After applying the Bonferroni correction for multiple testing (p=0.012), only the association of rs9533090 in AKAP11 remained significant. Conclusion:AKAP11 gene (rs9533090) influences QUS trait in a population of Caucasian young adults. The rs9533090 SNP may be considered a factor affecting peak bone mass acquisition.