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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
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Closing the Gap in Autism Genetics: Population-Specific Variants and the Imperative for Global Inclusion.

Kan Yang1, Yixiao Geng2, Wei Zhou3

  • 1Department of Developmental and Behavioral Pediatric and Child Primary Care, Brain and Behavioral Research Unit of Shanghai Institute for Pediatric Research and MOE-Shanghai Key Laboratory for Children's Environmental Health of Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Department of Neurology, Songjiang Hospital, Songjiang Research Institute, Shanghai Jiao Tong University School of Medicine, Shanghai, China; College of Materials and Chemical Engineering, Hunan Institute of Engineering, Xiangtan, China; College of Basic Medical Science, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Biological Psychiatry
|April 1, 2026
PubMed
Summary

Genomic research for autism spectrum disorder (ASD) is heavily biased towards European populations. Expanding global sequencing efforts is crucial for understanding diverse genetic risk factors and developing equitable diagnostics and therapies.

Keywords:
Ancestry-specific variantsAutismEuropean biasGene therapyGenetic sequencing

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Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Genomic Medicine

Background:

  • Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental condition with complex genetic underpinnings.
  • Extensive genomic research in European and North American populations has identified numerous ASD risk genes.
  • Current ASD genomic research exhibits a significant global imbalance, with underrepresentation of non-European ancestry populations.

Purpose of the Study:

  • To review the global landscape of ASD genomics, highlighting research disparities.
  • To emphasize the implications of Eurocentric bias in ASD genetic studies.
  • To discuss the need for diverse genomic data in ASD research and its applications.

Main Methods:

  • Synthesis of current evidence on the global distribution of ASD genomic research.
  • Emphasis on the contrast between well-powered Euro-American cohorts and under-sequenced populations in Asia and Africa.
  • Review of emerging data on ancestry-specific ASD risk genes.

Main Results:

  • Significant underrepresentation of non-European populations in ASD genomic studies.
  • Evidence suggests that ASD genetic architecture varies across different ancestries.
  • Eurocentric bias limits variant discovery, fine-mapping, and generalizability of findings.

Conclusions:

  • A comprehensive understanding of ASD genetic risk requires large-scale, trans-ethnic sequencing.
  • Integrative multi-omic approaches are essential for biological interpretation.
  • Coordinated global collaboration is necessary for equitable advancements in ASD diagnosis and therapeutics.