Abstract

Osteoporosis is a skeletal disorder characterized by low bone mineral density (BMD). Studies have shown that some of the genetic components relating to lower BMD may be detected by polymorphisms. Our aim was to evaluate the frequencies of interleukin-6, GST and progesterone receptor gene polymorphisms in postmenopausal women with low BMD. Cross-sectional study, conducted in a public university in São Paulo, Brazil. We evaluated interleukin-6 (IL-6), progesterone receptor gene (PROGINS) and glutathione S-transferase (GST) polymorphisms in 110 postmenopausal women with no previous use of hormone therapy. Tests were performed using DNA-PCR, from oral scrapings. We used Student's t-test and a logistic regression model for statistical analysis. Regarding IL-6 polymorphism, 58.2% of the patients were homozygotes (GG) and 41.8% had allele C (heterozygote or mutant homozygote + GC or CC). PROGINS genotype polymorphism was absent in 79% (wild homozygote or P1/P1) and present in 20.9% (heterozygote or P1/P2). Regarding GSTM1 polymorphism, the allele (1/1) was present in 72.7% of the patients and was absent in 27.3%. We found that IL-6 polymorphism had statistically significant correlations with the L2-L4 T-score (P = 0.032) and with BMD (P = 0.005). Women with IL-6 polymorphism were 2.3 times more likely to have a L2-L4 T-score of less than -1, compared with those not presenting this polymorphism. IL-6 gene polymorphism was correlated with low BMD, whereas the PROGINS and GSTM1 polymorphisms did not show any correlation.

Highlights

  • Osteoporosis is a skeletal disorder characterized by low bone mineral density (BMD) and deterioration of bone microarchitecture, predisposing towards a risk of fractures

  • Regarding IL-6 polymorphism, the composition of the groups was that 64 women were GG and 48 were GC/CC

  • We found that women with polymorphism in one allele, i.e. who were heterozygous for IL-6, presented a risk of having a L2/L4 T-score lower than -1.0 that was 2.3 times higher than those without this polymorphism

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Summary

Introduction

Osteoporosis is a skeletal disorder characterized by low bone mineral density (BMD) and deterioration of bone microarchitecture, predisposing towards a risk of fractures. It is estimated to affect more than 75 million people worldwide. The risk factors among women include: race, lower height, body mass index, lowcalcium diet, use of corticosteroids for over six months, smoking and menopausal status.[1]. Earlier studies showed that environmental effects and genetic control influenced bone turnover.[2,3] Back in 1991, genetic inheritance was shown to be 45-85% likely to be a determinant of mineral density.[2] Since various genes have been investigated.[3,4,5,6,7] Studies have shown that some of the genetic components relating to lower BMD may be detected by gene polymorphisms such as interleukin-6 (IL-6) polymorphism.[8,9,10,11]

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