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Common VDR polymorphisms and idiopathic short stature in children from northern Greece.

TitleCommon VDR polymorphisms and idiopathic short stature in children from northern Greece.
Publication TypeJournal Article
Year of Publication2015
AuthorsEmmanouilidou, E., Galli-Tsinopoulou A., Kyrgios I., Gbandi E., & Goulas A.
Date Published2015 Jan-Mar

BACKGROUND: A Vitamin D Receptor gene (VDR) polymorphism, rs10735810 (Fok1), has been associated in the past with idiopathic short stature (ISS) in a linkage study. We have investigated the association of the same, as well as a different polymorphism in the same gene [rs731236 (Taq1)] with ISS, in an independent study in Greek children.METHODS: The VDR rs10735810 (Fok1) and rs731236 (Taq1) polymorphisms were genotyped in a group of ISS children (n= 47) and an age and sex-matched group of normal height children (n= 60) from northern Greece. Genotyping was accomplished through established PCR-RFLP methods.RESULTS: An association trend of rs10735810 with ISS was observed, with the TT (ff) genotype being apparently underrepresented among ISS children compared to controls (p= 0.076; OR= 0.165, 95% CI= 0.025-1.094).CONCLUSIONS: The above results, together with recent evidence related to the functionality of the rs10735810 polymorphism, cannot exclude an involvement of VDR in the pathogenesis of ISS. Hippokratia 2015, 19 (1): 25-29.

Alternate JournalHippokratia
PubMed ID26435642
PubMed Central IDPMC4574581


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