Lack of Association Between Polymorphisms in Dopa Decarboxylase and Dopamine Receptor-1 Genes With Childhood Autism in Chinese Han Population

Yu, Hong; Liu, Jun; Yang, An‐Gang; Yang, Guangyu; Yang, Wenjun; Lei, Heyue; Quan, Jianjun; Zhang, Zengyu

doi:10.1177/0883073815601496

Cited by 13 publications

(5 citation statements)

References 32 publications

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“…DNA was extracted from blood cells using the Qiagen Blood DNA Mini kit (QIAGEN China (Shanghai) Co. Ltd, Shanghai, China) following the protocol described previously [ 24 , 25 ].…”

Section: Methodsmentioning

confidence: 99%

Polymorphisms in Vitamin D Receptor Genes in Association with Childhood Autism Spectrum Disorder

Zhang

et al. 2018

Disease Markers

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Both genetic and environmental factors have been implicated in the etiology of autism spectrum disorder (ASD). This case-control study aimed to determine the association of single-nucleotide polymorphisms (SNPs) rs731276 (TaqI), rs1568820 (Cdx2), rs1544410 (BsmI), and rs2228570 (FokI) in the vitamin D receptor (VDR) gene with susceptibility of childhood ASD and severity of the disease. A total of 201 children with ASD and 200 healthy controls from the Han Chinese population were recruited. SNP genotyping was carried out by TaqMan probe-based real-time PCR using genomic DNA extracted from blood cells. Among four examined SNPs, only the CT genotype (odds ratio (OR) = 1.96, 95% confidence interval (CI) = 1.05-3.68, P = 0 0351) and the C allele (OR = 1.88, 95% CI = 1.02-3.46, P = 0 0416) of the rs731276 were significantly associated with increased risks of childhood ASD. None of the SNPs were associated with severity of childhood ASD. Our results reveal that certain polymorphisms in the VDR gene are a risk factor related to childhood ASD in the Han Chinese population.

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“…DNA was extracted from blood cells using the Qiagen Blood DNA Mini kit (QIAGEN China (Shanghai) Co. Ltd, Shanghai, China) following the protocol described previously [ 24 , 25 ].…”

Section: Methodsmentioning

confidence: 99%

Polymorphisms in Vitamin D Receptor Genes in Association with Childhood Autism Spectrum Disorder

Zhang

et al. 2018

Disease Markers

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“…TaqMan probes were designed and synthesized by Applied Biosystems (Beijing, China). Real-time PCR was conducted following the manufacturer's protocol as described previously [26,35].…”

Section: Methodsmentioning

confidence: 99%

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 probes were designed and synthesized by Applied Biosystems (Beijing, China). Real-time PCR was conducted following the manufacturer's protocol, described previously [ 31 ].…”

Section: Methodsmentioning

confidence: 99%

Association between Genetic Variants in DUSP15, CNTNAP2, and PCDHA Genes and Risk of Childhood Autism Spectrum Disorder

Fang

Liu

et al. 2021

Behavioural Neurology

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Objective. Genetic factors play an important role in the development of autism spectrum disorder (ASD). This case-control study was to determine the association between childhood ASD and single nucleotide polymorphisms (SNPs) rs3746599 in the DUSP15 gene, rs7794745 in the CNTNAP2 gene, and rs251379 in the PCDHA gene in a Chinese Han population. Methods. Genotypes of SNPs were examined in DNA extracted from blood cells from 201 children with ASD and 200 healthy controls. The Children Autism Rating Scale (CARS) was applied to evaluate the severity of the disease and language impairment. The relationship between SNPs and the risk of ASD or the severity of the disease was determined by logistic regression and one-way ANOVA. Results. The genotype G/G of rs3746599 in the DUSP15 gene was significantly associated with a decreased risk of ASD (odds ratio OR = 0.65 , 95% confidence interval (CI): 0.42-0.99, P = 0.0449 ). The T allele of rs7794745 in the CNTNAP2 gene was associated with an increased risk of ASD ( OR = 1.34 , 95% CI: 1.01-1.77, P = 0.0435 ). The SNP rs251379 was not associated with ASD. Though none of the SNPs examined were associated with ASD severity, rs7794745 was associated with severity of language impairment. Conclusions. Our findings suggest that both rs3746599 in the DUSP15 gene and rs7794745 in the CNTNAP2 gene are associated with risk of childhood ASD, and rs7794745 is also related to the severity of language impairment in autistic children from a Chinese Han population.

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Lack of Association Between Polymorphisms in Dopa Decarboxylase and Dopamine Receptor-1 Genes With Childhood Autism in Chinese Han Population

Cited by 13 publications

References 32 publications

Polymorphisms in Vitamin D Receptor Genes in Association with Childhood Autism Spectrum Disorder

Polymorphisms in Vitamin D Receptor Genes in Association with Childhood Autism Spectrum Disorder

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

Association between Genetic Variants in DUSP15, CNTNAP2, and PCDHA Genes and Risk of Childhood Autism Spectrum Disorder

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