Genetic prediction of osteoporosis in clinical practice

Authors: T. Fait 1,2;  M. Koudová 2
Authors‘ workplace: Gynekologicko-porodnická klinika, 1. LF UK a VFN Praha 1;  Klinika GHC Praha, genetické laboratoře GHC GENETICS 2
Published in: Prakt Gyn 2011; 15(3-4): 144-148
Category: Original Article


The aim of the study was to explore the utility of predictive genetic testing in a group of women with a risk of osteoporosis.

Materials and methods:
257 women aged 34–68 years at an increased risk of osteoporosis were evaluated using densinometry, biochemistry and genetics. Eight genetic variants of the COL1A1, ESR1, VDR, LRP5, LRP6 and ALOX12 genes, associated with the risk of osteoporosis, were evaluated. Genetic predisposition was classified protective, high-risk or neutral based on the overall genetic score.

The tested sample comprised 16% of genetically high-risk women. Most frequently (39.1%), the women carried the high-risk TT genotype of the VDR gene (c.1025–49G>T); this is twice the prevalence in the general population. The protective AA genotypee of the ESR1 gene (c.453–351A>G) was also relatively frequent (37.4% of women). Osteopenia, as a clinical sign of an increased risk of osteoporosis, was diagnosed in 15% of the evaluated women. When correlated, 3% of women had an increased genetic and clinical risk.

Genetic testing could become one of the predictors of risk of osteoporosis, which would allow early and targeted prevention of osteoporosis even prior to the development of any clinical and densinometric changes.

Key words:
osteoporosis – predictive genetic testing – densitometry


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