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Selected vitamin D metabolic gene variants and risk for autism spectrum disorder in the CHARGE Study.

Authors: Schmidt, RJ  Hansen, RL  Hartiala, J  Allayee, H  Sconberg, JL  Schmidt, LC  Volk, HE  Tassone, F 
Citation: Schmidt RJ, etal., Early Hum Dev. 2015 Aug;91(8):483-9. doi: 10.1016/j.earlhumdev.2015.05.008. Epub 2015 Jun 11.
Pubmed: (View Article at PubMed) PMID:26073892
DOI: Full-text: DOI:10.1016/j.earlhumdev.2015.05.008

BACKGROUND: Vitamin D is essential for proper neurodevelopment and cognitive and behavioral function. We examined associations between autism spectrum disorder (ASD) and common, functional polymorphisms in vitamin D pathways. METHODS: Children aged 24-60 months enrolled from 2003 to 2009 in the population-based CHARGE case-control study were evaluated clinically and confirmed to have ASD (n=474) or typical development (TD, n=281). Maternal, paternal, and child DNA samples for 384 (81%) families of children with ASD and 234 (83%) families of TD children were genotyped for: TaqI, BsmI, FokI, and Cdx2 in the vitamin D receptor (VDR) gene, and CYP27B1 rs4646536, GC rs4588, and CYP2R1 rs10741657. Case-control logistic regression, family-based log-linear, and hybrid log-linear analyses were conducted to produce risk estimates and 95% confidence intervals (CI) for each allelic variant. RESULTS: Paternal VDR TaqI homozygous variant genotype was significantly associated with ASD in case-control analysis (odds ratio [OR] [CI]: 6.3 [1.9-20.7]) and there was a trend towards increased risk associated with VDR BsmI (OR [CI]: 4.7 [1.6-13.4]). Log-linear triad analyses detected parental imprinting, with greater effects of paternally-derived VDR alleles. Child GC AA-genotype/A-allele was associated with ASD in log-linear and ETDT analyses. A significant association between decreased ASD risk and child CYP2R1 AA-genotype was found in hybrid log-linear analysis. There were limitations of low statistical power for less common alleles due to missing paternal genotypes. CONCLUSIONS: This study provides preliminary evidence that paternal and child vitamin D metabolism could play a role in the etiology of ASD; further research in larger study populations is warranted.


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RGD Object Information
RGD ID: 11053054
Created: 2016-04-13
Species: All species
Last Modified: 2016-04-13
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.