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Updated: May 16, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
The osteocalcin gene rs1800247 polymorphism in Kashubian population
Krzysztof Specjalski1, Maria Porzezińska, Alicja Siemińska
1Department of Allergology, Medical University of Gdansk, ul. Debinki 7, 80-952, Gdansk, Poland, specjalski@poczta.onet.pl.
Abstract:
Osteocalcin is the most important noncollagenous protein component of the bone. Polymorphisms of osteocalcin gene were reported to be associated with bone mineral density. However, this relation was only confirmed in some populations. In this study presence of C/T polymorphism in osteocalcin gene (rs1800247) was determined in Kashubian population (northern Poland). The frequencies of variants were CC 9 %, TC 31 %, and TT 60 %, with no significant differences between genders. The genotypes were in Hardy-Weinberg equilibrium.
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