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.
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http://dx.doi.org/10.1007/s10803-020-04417-3 | DOI Listing |
Int J Hyg Environ Health
December 2024
Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC, 3052, Australia; Department of Paediatrics, University of Melbourne, Parkville, VIC, 3052, Australia; Melbourne School of Population and Global Health, University of Melbourne, Parkville, VIC, 3052, Australia.
Introduction: Phthalates, chemical additives used to enhance plastic products' flexibility, are easily released into the environment, and can harm the brain development through various mechanisms including inflammation. Genetic variation influencing an individual's susceptibility to inflammation may play a role in the effects of phthalate exposure on neurodevelopment however there is no summary measure developed for genetic susceptibility to inflammation.
Methods: We developed a genetic pathway function score for inflammation (gPFS), based on the transcriptional activity of the inflammatory response pathway in the brain and other tissues.
J Health Popul Nutr
December 2024
Department of Epidemiology and Health Statistics, Xiangya School of Public Health, Central South University, Changsha, Hunan, China.
Background: Although many studies shown that the risk of congenital heart disease (CHD) was closely related to genetic and environmental factors, the exact mechanism was still unclear. This study was to assess the association of maternal folic acid supplementation (FAS), the 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR) gene polymorphisms in offspring and their interaction effects with the risk of CHD and its subtypes.
Methods: A case-control study was conducted on 595 children with CHD and 605 healthy child controls.
BMC Psychiatry
December 2024
Faculty of Medicine and Health Technology, Tampere University and Tays Cancer Centre, Tampere, Finland.
Background: Autism spectrum disorder (ASD) is a partially heritable neurodevelopmental trait, and people with ASD may also have other co-occurring trait such as ADHD, anxiety disorders, depression, mental health issues, learning difficulty, physical health traits and communication challenges. The concomitant development of ASD and other neurological traits is assumed to result from a complex interplay between genetics and the environment. However, only a limited number of studies have performed multivariate genome-wide association studies (GWAS) for ASD.
View Article and Find Full Text PDFJ Neurochem
January 2025
CNC-UC-Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal.
Microglia are crucial for brain development and their function can be impacted by postnatal insults, such as early-life allergies. These are characterized by an upregulation of interleukin (IL)-4 levels. Allergies share a strong comorbidity with Autism Spectrum Disorders (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD).
View Article and Find Full Text PDFBurns
December 2024
Graduate Institute of Behavioral Sciences, Chang Gung University, Taoyuan, Taiwan; Department of Psychiatry, Chang Gung Memorial Hospital, Linkou, Taoyuan, Taiwan. Electronic address:
Objective: Burn injuries can be traumatic and lead to psychological sequelae, particularly acute stress disorder (ASD). Information regarding the prevalence and risk factors of ASD following DSM-5 criteria is relatively limited among survivors of burn and other traumas. This study aimed to investigate the prevalence of probable ASD post-burn according to DSM-5 criteria and explore the impact and interplay of pre- and peri-trauma psychological risk factors on DSM-5 ASD symptomatology.
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