scholarly journals Association Study of Polymorphisms in Genes Relevant to Vitamin B12 and Folate Metabolism with Childhood Autism Spectrum Disorder in a Han Chinese Population

2018 ◽  
Vol 24 ◽  
pp. 370-376 ◽  
Author(s):  
Zengyu Zhang ◽  
Lianfang Yu ◽  
Sufang Li ◽  
Jun Liu
Keyword(s):  
Autism Spectrum Disorder ◽  
Vitamin B12 ◽  
Association Study ◽  
Chinese Population ◽  
Autism Spectrum ◽  
Han Chinese ◽  
Folate Metabolism ◽  
Childhood Autism ◽  
Spectrum Disorder ◽  
Han Chinese Population

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

2018 ◽  
Vol 2018 ◽  
pp. 1-7 ◽  
Author(s):  
Zengyu Zhang ◽  
Sufang Li ◽  
Lianfang Yu ◽  
Jun Liu
Keyword(s):  
Autism Spectrum Disorder ◽  
Vitamin D ◽  
Vitamin D Receptor ◽  
Chinese Population ◽  
Autism Spectrum ◽  
Han Chinese ◽  
Spectrum Disorder ◽  
Taqman Probe ◽  
Vdr Gene ◽  
Han Chinese Population

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.

scholarly journals Nexus Between Genome-Wide Copy Number Variations and Autism Spectrum Disorder in Northeast Han Chinese Population

2021 ◽  
Author(s):  
Shuang Qiu ◽  
Xianling Cong ◽  
Yan Li ◽  
Jikang Shi ◽  
Yingjia Qiu ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Copy Number ◽  
Chinese Population ◽  
Autism Spectrum ◽  
Han Chinese ◽  
Spectrum Disorder ◽  
Comparative Genomic ◽  
Han Chinese Population ◽  
Genome Wide ◽  
A Genome

Abstract Background: Autism spectrum disorder (ASD) is a common neurodevelopmental condition, with an increasing prevalence worldwide. Copy number variation (CNV), as one of genetic factors, is involved in ASD etiology. However, there exist substantial differences in terms of location and frequency of some CNVs in the general Asian population. Whole-genome studies of CNVs in Northeast Han Chinese samples are still lacking, necessitating our ongoing work to investigate the characteristics of CNVs in a Northeast Han Chinese population with clinically diagnosed ASD.Methods: We performed a genome-wide CNVs screening in Northeast Han Chinese individuals with ASD using array-based comparative genomic hybridization.Results: We found 22 kinds of CNVs (six deletions and 16 duplications) were potential pathogenic. These CNVs were distributed in chromosome 1p36.33, 1p36.31, 1q42.13, 2p23.1-p22.3, 5p15.33, 5p15.33-p15.2, 7p22.3, 7p22.3-p22.2, 7q22.1-q22.2, 10q23.2-q23.31, 10q26.2-q26.3, 11p15.5, 11q25, 12p12.1-p11.23, 14q11.2, 15q13.3, 16p13.3, 16q21, 22q13.31-q13.33, and Xq12-q13.1. Additionally, we found 20 potential pathogenic genes of ASD in our population, including eight protein coding genes (six duplications [DRD4, HRAS, OPHN1, SHANK3, SLC6A3, and TSC2] and two deletions [CHRNA7 and PTEN]) and 12 microRNAs genes (ten duplications [MIR202, MIR210, MIR3178, MIR339, MIR4516, MIR4717, MIR483, MIR675, MIR6821, and MIR940] and two deletions [MIR107 and MIR558]).Limitations: The sample size in our study may confer limited statistical power to discover significant findings. De novo or inherited of the CNVs were not be classified because of the lack of data from parents.Conclusions: We identified CNVs and genes implicated in ASD risks, conferring perception to further reveal ASD etiology.

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