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Rheumatology 2000; 39: 1222-1225
© 2000 British Society for Rheumatology

Collagen type I{alpha}1 gene polymorphism in idiopathic osteoporosis in men

P. Peris, L. Alvarez1, J. Oriola2, N. Guañabens, A. Monegal, M. J. Martínez de Osaba2, J. Jo1, F. Pons3, A. M. Ballesta1 and J. Muñoz-Gómez

Service of Rheumatology,
1 Service of Clinical Biochemistry,
2 Hormonal Laboratory and
3 Service of Nuclear Medicine, IDIBAPS, Hospital Clinic, University of Barcelona, Spain

Objective. To analyse the distribution of polymorphism of the collagen type I{alpha}1 gene (COL1A1) and its relationship with bone metabolism and bone turnover in men with idiopathic osteoporosis.

Methods. A total of 35 male patients with idiopathic osteoporosis, aged 50.4 ± 10.3 yr, and 60 healthy males (controls), aged 47 ± 17 yr, were included in the study. Serum osteocalcin, 25-hydroxyvitamin D and parathyroid hormone were determined in all patients. The COL1A1 Sp1 genotypes (SS, Ss, ss) were assessed by restriction enzyme digestion (Bal1) of DNA amplified by the polymerase chain reaction.

Results. Patients with idiopathic osteoporosis had a higher frequency of the s allele than men in the control group (29 vs 11%, P = 0.003) and a higher frequency of the Ss genotype (patients, 48% SS, 46% Ss, 6% ss; controls, 80% SS, 18% Ss, 2% ss; P = 0.003). No significant differences between genotypes were observed in serum concentrations of osteocalcin, vitamin D or parathyroid hormone among either the patients or the controls.

Conclusion This study suggests that, in men with idiopathic osteoporosis, there is a high prevalence of the s allele and the Ss genotype that is unrelated to other parameters of bone metabolism.

KEY WORDS: Bone mass, Osteopenia, Male, Genetic, Primary osteoporosis.

Correspondence to: P. Peris, Servicio de Reumatología, Hospital Clínic, Villarroel 170, 08036 Barcelona, Spain.


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