E Emmanouilidou1, A Galli-Tsinopoulou1, I Kyrgios1, E Gbandi2, A Goulas2. 1. 4 Department of Pediatrics, Papageorgiou General Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece. 2. 1 Laboratory of Pharmacology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Abstract
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.
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 VDRrs10735810 (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.
Entities:
Keywords:
FokI polymorphism; Greek children; Vitamin D receptor gene; rs10735810; idiopathic short stature
Authors: Daniel F Gudbjartsson; G Bragi Walters; Gudmar Thorleifsson; Hreinn Stefansson; Bjarni V Halldorsson; Pasha Zusmanovich; Patrick Sulem; Steinunn Thorlacius; Arnaldur Gylfason; Stacy Steinberg; Anna Helgadottir; Andres Ingason; Valgerdur Steinthorsdottir; Elinborg J Olafsdottir; Gudridur H Olafsdottir; Thorvaldur Jonsson; Knut Borch-Johnsen; Torben Hansen; Gitte Andersen; Torben Jorgensen; Oluf Pedersen; Katja K Aben; J Alfred Witjes; Dorine W Swinkels; Martin den Heijer; Barbara Franke; Andre L M Verbeek; Diane M Becker; Lisa R Yanek; Lewis C Becker; Laufey Tryggvadottir; Thorunn Rafnar; Jeffrey Gulcher; Lambertus A Kiemeney; Augustine Kong; Unnur Thorsteinsdottir; Kari Stefansson Journal: Nat Genet Date: 2008-04-06 Impact factor: 38.330
Authors: Mark R Haussler; G Kerr Whitfield; Ichiro Kaneko; Carol A Haussler; David Hsieh; Jui-Cheng Hsieh; Peter W Jurutka Journal: Calcif Tissue Int Date: 2012-07-11 Impact factor: 4.333
Authors: Stuart Macgregor; Jouke-Jan Hottenga; Penelope A Lind; H Eka D Suchiman; Gonneke Willemsen; P Eline Slagboom; Grant W Montgomery; Nicholas G Martin; Peter M Visscher; Dorret I Boomsma Journal: Twin Res Hum Genet Date: 2008-10 Impact factor: 1.587
Authors: A Tokita; H Matsumoto; N A Morrison; T Tawa; Y Miura; K Fukamauchi; N Mitsuhashi; M Irimoto; S Yamamori; M Miura; T Watanabe; Y Kuwabara; K Yabuta; J A Eisman Journal: J Bone Miner Res Date: 1996-07 Impact factor: 6.741
Authors: Guillaume Lettre; Anne U Jackson; Christian Gieger; Fredrick R Schumacher; Sonja I Berndt; Serena Sanna; Susana Eyheramendy; Benjamin F Voight; Johannah L Butler; Candace Guiducci; Thomas Illig; Rachel Hackett; Iris M Heid; Kevin B Jacobs; Valeriya Lyssenko; Manuela Uda; Michael Boehnke; Stephen J Chanock; Leif C Groop; Frank B Hu; Bo Isomaa; Peter Kraft; Leena Peltonen; Veikko Salomaa; David Schlessinger; David J Hunter; Richard B Hayes; Gonçalo R Abecasis; H-Erich Wichmann; Karen L Mohlke; Joel N Hirschhorn Journal: Nat Genet Date: 2008-04-06 Impact factor: 38.330