Association Between DCC Polymorphisms and Susceptibility to Autism Spectrum Disorder
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ORIGINAL PAPER
Association Between DCC Polymorphisms and Susceptibility to Autism Spectrum Disorder Yan Li1 · Shuang Qiu1 · Weijing Zhong3 · Yong Li1 · Yunkai Liu2 · Yi Cheng2 · Yawen Liu1
© Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract Autism spectrum disorder (ASD) represents a group of childhood-onset lifelong neuro-developmental disorders. However, the association between single nucleotide polymorphisms (SNPs) in the deleted in colorectal carcinoma (DCC) gene and ASD susceptibility remains unclear. We investigated the association between ASD susceptibility and seven SNPs in DCC on the basis of a case–control study (231 ASD cases and 242 controls) in Chinese Han. We found that there was no association between ASD susceptibility and the seven SNPs in DCC; however, T–A haplotype (rs2229082–rs2270954), T–A–T–C haplotype (rs2229082–rs2270954–rs2292043–rs2292044), C–G–T–C–T haplotype (rs934345–rs17753970–rs2229082– rs2270954–rs2292043), C–G–T–C–T–G haplotype (rs934345–rs17753970–rs2229082–rs2270954–rs2292043–rs2292044), and G–G–T–C–C–C–C haplotype (rs934345–rs17753970–rs2229082–rs2270954–rs2292043–rs2292044–rs16956878) were associated with ASD susceptibility. Our results indicate that the haplotypes formed on the basis of the seven SNPs in DCC may be implicated in ASD. Keywords Autism spectrum disorder · Deleted in colorectal carcinoma gene · Single nucleotide polymorphisms · Haplotype analysis · Susceptibility Abbreviations ASD Autism spectrum disorder DCC Deleted in colorectal carcinoma SNPs Single nucleotide polymorphisms GWAS Genome-wide association study DSM-5 Diagnostic and statistical manual of mental disorders, fifth edition CHB Chinese Han in Beijing population MAF Minimum allele frequency Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10803-020-04417-3) contains supplementary material, which is available to authorized users. * Yi Cheng [email protected] * Yawen Liu [email protected] 1
Department of Epidemiology and Biostatistics, School of Public Health, Jilin University, Changchun 130021, China
2
Institute of Translational Medicine, The First Hospital of Jilin University, Changchun 130021, China
3
Chunguang Rehabilitation Hospital, Changchun 130021, China
HWE Hardy–Weinberg equilibrium OR Odds ratio CI Confidence interval AIC Akaike’s information criterion LD Linkage disequilibrium
Introduction Cases with autism spectrum disorder (ASD) manifest behavioral deficiency, mainly including social awareness and interactions, verbal and nonverbal communication, and restricted (stereotypical) behaviors and interests (Bergbaum and Ogilvie 2016). ASD is usually apparent in very young infants (
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