Objective: Osteoporosis is a common disorder with a strong genetic component. Our aim was to investigate the correlations of the interleukin-1β (IL-1β) and interleukin-1 receptor antagonist (IL-1Ra) gene polymorphisms with bone mineral density (BMD) and their relationship to osteoporosis. Methods: The IL-1β (promoter and exon 5) and IL-1Ra (intron 2) gene polymorphisms were determined using polymerase chain reaction. BMD of the lumbar spine and proximal femur were measured using dual-energy X-ray absorptiometry. Results: The prevalence of each genotype of the interleukin-1 related genes in the study population was: (1) 14% C/C, 71.5% C/T, and 14.5% T/T in IL-1β promoter; (2) 95.3% E1/E1 and 4.7% E1/E2 in IL-1β exon 5; (3) 92.4% I/I, 6.4% I/II, and 1.2% II/II in IL-1Ra intron 2. After adjustment for potential confounding factors such as age, height, weight, years since menopause, and daily calcium intake, subjects with genotype E1/E2 (n=8) in IL-1β exon 5 had lower BMD values and a significantly greater risk for osteoporosis (OR 10.6, 95% CI 1.3–83.8) at the lumbar spine when compared with subjects with genotype E1/E1 (n=164) in IL-1β exon 5. Conclusion: The Taq I IL-1β exon 5 gene polymorphism is associated with reduced BMD and predisposes women to osteoporosis at the lumbar spine, but our results should be interpreted with caution because of the small number of subjects with the unfavorable E1/E2 genotype.
