Association of vitamin D receptor TaqI gene variant in Exon 9 and ApaI in intron 8 with uncontrolled paediatric asthma in Ireland

Vitamin D Receptors TaqI Gene Variant in Exon 9 and ApaI in Intron 8 in uncontrolled paediatric asthma. Hutchinson K1,4, Kerley CP3,Cormican L2, Faul J2,Greally P3,Coghlan D3, Louw M1, Elnazir B3 , Rochev Y4. 1. Biomnis Ireland, Sandyford, Dublin 18, Ireland. 2. Asthma Research Centre, Connolly Hospital, Dublin 15, Ireland. 3. Adelaide and Meath Hospital, Tallaght, Dublin 24, Ireland. 4. School of Chemistry, National University of Ireland, Galway, Ireland. BACKGROUND: Asthma is a chronic heterogeneous respiratory disease with a strong genetic and immunological component and it affects about one of every five children in Ireland. The results of recent studies imply that vitamin D receptor (VDR) genetic variants may be associated with asthma. In this study we aimed a) to determine the VDR gene variants TaqI in exon 9 (T/C) (rs731236) and ApaI (rs7975232) in intron 8 (C/T) in uncontrolled paediatric asthmatics, and also in healthy volunteers in Ireland and b) to investigate the impact of this polymorphisms in asthma susceptibility in relation to vitamin D status and other biochemical and immunological indices. MATERIALS AND METHODS: In this study, carried out in Ireland (at a high latitude and during the winter season), 45 Caucasian children with uncontrolled asthma participated. 57 healthy volunteers were used as a normal control group. Outcome measured lung function, full blood count (FBC) and biochemical parameters of total 25-hydroxyvitamin D (25OHD), allergy, immunity, airway inflammation and systemic inflammation. Serum 25OHD, parathyroid hormone, albumin, total calcium, alkaline phosphatases, phosphate, total IgE, IgA, and high sensitivity C reactive protein were measured on the Abbott Architect ci8200. Eosinophil cationic protein was analysed on Phadia 250...View Here