The Correlation Between Vitamin D Receptor (VDR) Gene Polymorphisms and Autism: A Meta-analysis

Yang, Haijun; Wu, Xueping

doi:10.1007/s12031-019-01464-z

Cited by 17 publications

(12 citation statements)

References 25 publications

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“…Sun et al [ 55 ] found that the rs731236 polymorphism was significantly associated with ASD risk in the dominant model. Both Sun et al [ 55 ] and Yang et al [ 56 ] found that the mutant allele of rs7975232 of VDR was significantly associated with a decreased ASD risk (Table 2 ). There were no significant SNPs in COMT , GABRB3 , RELN , and SLC6A4 .…”

Section: Resultsmentioning

confidence: 99%

“…The characteristics of the selected studies are presented in Table 1 . Of the 28 included reviews, eight were on methylenetetrahydrofolate reductase ( MTHFR ) [ 29 – 36 ]; four each on solute carrier family 6 member 4 ( SLC6A4 ) [ 37 – 40 ] and contactin associated protein 2 ( CNTNAP2 ) [ 41 – 44 ]; three each on oxytocin receptor ( OXTR ) [ 45 – 47 ] and reelin ( RELN ) [ 48 – 50 ]; two each on gamma-aminobutyric acid type A receptor subunit beta3 ( GABRB3 ) [ 51 , 52 ], solute carrier family 25 member 12 ( SLC25A12 ) [ 53 , 54 ], and vitamin D receptor ( VDR ) [ 55 , 56 ]; and one on catechol-o-methyltransferase ( COMT ) [ 39 ] (one meta-analysis was on both COMT and SLC6A4 ). These studies were published from 2008 to 2021 and considered the associations between 41 SNPs in nine candidate genes and ASD risk.…”

Section: Resultsmentioning

confidence: 99%

“…Sun et al [ 55 ] found that the rs2228570 polymorphism of VDR was associated with an increased ASD risk in homozygote and recessive models, while Yang et al [ 56 ] did not find significant associations in any genetic model. Both authors [ 55 , 56 ] found that the rs731236 polymorphism of VDR was significantly associated with ASD risk in allelic, homozygote, and recessive models. Sun et al [ 55 ] found that the rs731236 polymorphism was significantly associated with ASD risk in the dominant model.…”

Section: Resultsmentioning

confidence: 99%

“…Notably, vitamin D exerts its effects on genes via the VDR gene, to which changes may be an underlying risk factor for ASD. Sun et al [ 55 ] and Yang et al [ 56 ] performed meta-analyses to pool the effect size of inconsistent conclusions from original studies on the associations between SNPs in VDR and ASD risks. We further re-analyzed and categorized the strengths of evidence.…”

Section: Discussionmentioning

confidence: 99%

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Genetics of autism spectrum disorder: an umbrella review of systematic reviews and meta-analyses

Qiu

et al. 2022

Transl Psychiatry

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Autism spectrum disorder (ASD) is a class of neurodevelopmental conditions with a large epidemiological and societal impact worldwide. To date, numerous studies have investigated the associations between genetic variants and ASD risk. To provide a robust synthesis of published evidence of candidate gene studies for ASD, we performed an umbrella review (UR) of meta-analyses of genetic studies for ASD (PROSPERO registration number: CRD42021221868). We systematically searched eight English and Chinese databases from inception to March 31, 2022. Reviewing of eligibility, data extraction, and quality assessment were performed by two authors. In total, 28 of 5062 retrieved articles were analyzed, which investigated a combined 41 single nucleotide polymorphisms (SNPs) of nine candidate genes. Overall, 12 significant SNPs of CNTNAP2, MTHFR, OXTR, SLC25A12, and VDR were identified, of which associations with suggestive evidence included the C677T polymorphism of MTHFR (under allelic, dominant, and heterozygote models) and the rs731236 polymorphism of VDR (under allelic and homozygote models). Associations with weak evidence included the rs2710102 polymorphism of CNTNAP2 (under allelic, homozygote, and recessive models), the rs7794745 polymorphism of CNTNAP2 (under dominant and heterozygote models), the C677T polymorphism of MTHFR (under homozygote model), and the rs731236 polymorphism of VDR (under dominant and recessive models). Our UR summarizes research evidence on the genetics of ASD and provides a broad and detailed overview of risk genes for ASD. The rs2710102 and rs7794745 polymorphisms of CNTNAP2, C677T polymorphism of MTHFR, and rs731236 polymorphism of VDR may confer ASD risks. This study will provide clinicians and healthcare decision-makers with evidence-based information about the most salient candidate genes relevant to ASD and recommendations for future treatment, prevention, and research.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Genetics of autism spectrum disorder: an umbrella review of systematic reviews and meta-analyses

Qiu

et al. 2022

Transl Psychiatry

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“…A recent animal study tested rat pups of different postnatal ages using a battery related to the ASD behavioral phenotype and found several differences in offspring of vitamin D deficient dams (Ali et al, 2019). Genetic polymorphisms may also play a role; a recent meta-analysis [Yang & Wu, 2020] reported that allelic differences in two vitamin D receptor genes involved in binding or transport of 25(OH)D were associated with ASD and another recent study [Yu, Zhang, Liu, Hu, & Liu, 2020] found polymorphisms in vitamin D metabolism-related enzymes associated with childhood ASD and its severity.…”

Section: Discussionmentioning

confidence: 99%

Maternal Vitamin D Levels During Pregnancy in Association With Autism Spectrum Disorders (ASD) or Intellectual Disability (ID) in Offspring; Exploring Non‐linear Patterns and Demographic Sub‐groups

et al. 2020

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Increasing vitamin D deficiency and evidence for vitamin D's role in brain and immune function have recently led to studies of neurodevelopment; however, few are specific to autism spectrum disorder (ASD) and vitamin D in pregnancy, a likely susceptibility period. We examined this in a case-control study of 2000-2003 Southern Californian births; ASD and intellectual disability (ID) were identified through the Department of Developmental Services and controls from birth certificates (N = 534, 181, and 421, respectively, in this analysis). Total 25-Hydroxyvitamin D (25(OH)D) was measured in mid-pregnancy serum, categorized as deficient (<50 nmol/L), insufficient (50-74 nmol/L), or sufficient (≥75 nmol/L, referent category), and examined continuously (per 25 nmol/L). Crude and adjusted odds ratios (AORs) and 95% confidence intervals (95% CI) were calculated. Non-linearity was examined with cubic splines. AORs (95% CI) for ASD were 0.79 (0.49-1.3) for maternal deficiency (9.5%), 0.93 (0.68-1.3) for insufficiency (25.6%), and 0.95 (0.86, 1.05) for linear continuous 25(OH)D. Results were similarly null for ASD with or without ID, and ID only. Interactions were observed; non-Hispanic whites (NHW) (AOR = 0.82, 95% CI = 0.69-0.98) and males (AOR = 0.89, 95% CI = 0.80-0.99) had protective associations for ASD with continuous 25(OH)D. A positive association with ASD was observed in females (AOR = 1.40, 95% CI = 1.06-1.85). With splines, a non-linear inverted j-shaped pattern was seen overall (P = 0.009 for non-linearity), with the peak around 100 nmol/L; a non-linear pattern was not observed among NHW, females, nor for ID. Our findings from a large study of ASD and prenatal vitamin D levels indicate that further research is needed to investigate non-linear patterns and potentially vulnerable subgroups .

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Vitamin D receptor gene variants and serum vitamin D in childhood autism spectrum disorder

et al. 2022

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OBJECTIVE: This study aimed to examine the correlation between polymorphisms in vitamin D receptor (VDR) gene and serum vitamin D, and to determine their role in predicting childhood Autism Spectrum Disorder (ASD). METHODS: A total of 269 children with ASD and 320 age-and gender-matched healthy controls were recruited from the Chinese Han population. Their serum 25(OH) vitamin D was measured using competitive chemiluminescent immunoassays. The TaqMan probe approach was applied to analyze the common VDR SNPs rs731236 (Taq1), rs11568820 (Cdx2), rs1544410 (BsmI), rs2228570 (FokI) and rs7975232 (API). Both linear and logistic regressions were applied in data analysis.RESULTS: Children with ASD had signi cantly lower levels of serum vitamin D and a signi cantly higher rate of vitamin D de ciency (< 20 ng/ml) compared to healthy controls (67.7% vs 34.1%). All these examined VDR SNPs were not correlated with serum vitamin D concentrations or vitamin D de ciency.Logistic regression analysis revealed that rs731236 and serum vitamin D were associated with childhood ASD. The area under the receiver operating characteristic (ROC) curve was 0.7285 for serum vitamin D.Children with both T/C genotype of rs731236 and vitamin D de ciency had a higher risk of being diagnosed with ASD. CONCLUSION: All examined common VDR SNPs are not correlated with serum vitamin D concentrations or vitamin D de ciency. The combination of T/C phenotype of rs731236 and vitamin D de ciency are associated with a higher risk of childhood ASD. Vitamin D is a promising target in the prevention and treatment of this disease.

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The Correlation Between Vitamin D Receptor (VDR) Gene Polymorphisms and Autism: A Meta-analysis

Cited by 17 publications

References 25 publications

Genetics of autism spectrum disorder: an umbrella review of systematic reviews and meta-analyses

Genetics of autism spectrum disorder: an umbrella review of systematic reviews and meta-analyses

Maternal Vitamin D Levels During Pregnancy in Association With Autism Spectrum Disorders (ASD) or Intellectual Disability (ID) in Offspring; Exploring Non‐linear Patterns and Demographic Sub‐groups

Vitamin D receptor gene variants and serum vitamin D in childhood autism spectrum disorder

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