scholarly journals Association of Granzyme B Gene Polymorphism with Autism Spectrum Disorder in Northeast Han Chinese Population

2019 ◽  
Vol 21 (9) ◽  
Author(s):  
Guojun Kang ◽  
Shangchao Zhang ◽  
Yaqin Yu ◽  
Qiong Yu
Keyword(s):  
Autism Spectrum Disorder ◽  
Gene Polymorphism ◽  
Chinese Population ◽  
Granzyme B ◽  
Autism Spectrum ◽  
Han Chinese ◽  
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.

scholarly journals HLA-A and HLA-B gene polymorphism and idiopathic pulmonary fibrosis in a Han Chinese population

2012 ◽  
Vol 106 (10) ◽  
pp. 1456-1462 ◽  
Author(s):  
Ji Zhang ◽  
Dong-jing Xu ◽  
Kai-feng Xu ◽  
Bo Wu ◽  
Ming-feng Zheng ◽  
...  
Keyword(s):  
Idiopathic Pulmonary Fibrosis ◽  
Pulmonary Fibrosis ◽  
Gene Polymorphism ◽  
Chinese Population ◽  
Han Chinese ◽  
Han Chinese Population

DUSP10 gene polymorphism and risk of colorectal cancer in the Han Chinese population

2014 ◽  
Vol 23 (3) ◽  
pp. 173-176 ◽  
Author(s):  
Tao Zhang ◽  
Xiaolan Li ◽  
Qingguo Du ◽  
Sangmingjiu Gong ◽  
Min Wu ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Gene Polymorphism ◽  
Chinese Population ◽  
Han Chinese ◽  
Han Chinese Population

Association Study between Ghrelin Gene Polymorphism and Metabolic Syndrome in a Han Chinese Population

2017 ◽  
Vol 63 (01/2017) ◽  
Author(s):  
Yueyue You ◽  
Yaqin Yu ◽  
Yanhua Wu ◽  
Wenwang Rao ◽  
Yangyu Zhang ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Gene Polymorphism ◽  
Association Study ◽  
Chinese Population ◽  
Han Chinese ◽  
Han Chinese Population ◽  
Ghrelin Gene
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