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Related Concept Videos

Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Genome-wide Association Studies-GWAS01:11

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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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When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
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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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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Related Experiment Video

Updated: Nov 5, 2025

Inducement and Evaluation of a Murine Model of Experimental Myopia
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Genetic Association Study Revealed Three Loci Were Associated Risk of Myopia Among Minors.

Zixiu Zhou1, Sizhen Li1, Qingsong Yang1

  • 1Nanjing Tongren Hospital, School of Medicine, Southeast University, Nanjing, 211102, People's Republic of China.

Pharmacogenomics and Personalized Medicine
|May 19, 2021
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Summary

Three genetic loci were found to increase myopia risk in minors, offering new molecular insights into the condition. These findings validate previous research and highlight key genetic factors in childhood myopia development.

Keywords:
SNPgenome-wide association study; GWASminorsmyopia

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Area of Science:

  • Genetics
  • Ophthalmology
  • Pediatrics

Background:

  • Myopia is a significant public health concern in children.
  • A prior genome-wide association study (GWAS) identified six novel genetic loci associated with myopia in Asian adults.
  • The relevance of these identified loci to myopia development in minors required investigation.

Purpose of the Study:

  • To validate the findings of a previous GWAS in a pediatric population.
  • To explore the association between specific genetic loci and the risk of myopia in minors.
  • To investigate the genetic susceptibility mechanisms underlying myopia in children.

Main Methods:

  • A case-control study was conducted involving 600 minors with myopia, 110 with high myopia (HM), and 800 non-myopic controls.
  • TaqMan single nucleotide polymorphism (SNP) genotyping assays were employed for genetic analysis.
  • Adjusted odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to assess the risk associated with identified SNPs.

Main Results:

  • Three SNPs, rs2246661, rs74633073, and rs76903431, showed a significant association with an increased risk of myopia in minors.
  • Specifically, rs2246661 was also significantly associated with an increased risk of high myopia (HM) in the pediatric cohort.
  • The median ages of participants across groups were consistent, indicating no significant age-related bias in the study.

Conclusions:

  • The study identified three genetic loci that contribute to the risk of myopia in minors.
  • These findings provide novel insights into the molecular mechanisms of genetic susceptibility to myopia.
  • The results underscore the importance of genetic factors in the development of childhood myopia.