| Abstract | | Background: Osteoporosis is a skeletal disorder, characterized by low bone mass and microarchitectural deterioration of bone tissue, leading to increased risk of fracture. Recently, the role of age-related pro-infl ammatory cytokines, such as interleukin (IL)-1 Ž , in stimulating bone resorption has been suggested. As osteoporosis has a strong genetic background, the aim of our study was to evaluate the association of two IL-10 gene single nucleotide polymorphisms (SNPs) rs2071375 ( + 12534G > A) and rs17651 ( + 4845G > T) with osteoporotic phenotypes as well as to fi nd the association with IL-10 gene expression in human bone tissue. Methods: Genotyping was performed in 671 Slovenian participants, 125 elderly men, 490 post- and 56 premenopausal women. Bone mineral density (BMD) at the lumbar spine, femoral neck and total hip were measured. Biochemical markers of bone turnover were measured in women. Results: Signifi cant association of GG/TA haplotype with higher femoral neck and total hip BMD in elderly men and women was shown (p = 0.009 and 0.030, respectively). In men, the association of the GG/GG haplotype with higher femoral neck BMD was of limited statistical significance (p = 0.050). In women, significant association of studied genetic variants with serum C-terminal crosslinking telopeptides of type I collagen and bone alkaline phosphatase were found (p = 0.033 and 0.029, respectively). No infl uence on IL-1 Ž expression was found. Finally, signifi cantly lower odds ratio for hip fracture associated with the presence of TA haplotype was found (p = 0.026).
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