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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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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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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
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Updated: Aug 31, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Phenotype Harmonization in the GLIDE2 Oral Health Genomics Consortium.

K Divaris1,2, S Haworth3,4, J R Shaffer5,6

  • 1Division of Pediatric and Public Health, Adams School of Dentistry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

Journal of Dental Research
|August 24, 2022
PubMed
Summary

The Gene-Lifestyle Interactions and Dental Endpoints consortium (GLIDE2) expands to over 700,000 participants to study genetic factors in oral diseases. A new phenotyping strategy enables robust genetic analysis of dental caries and periodontitis.

Keywords:
Geneticsdata sciencesdental cariesdentition, permanentepidemiologygenome-wide association study

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Area of Science:

  • Genomics and Oral Health
  • Dental and Craniofacial Disease Etiology

Background:

  • Genetic factors significantly influence oral, dental, and craniofacial diseases.
  • Dental caries and periodontitis are complex polygenic diseases requiring large sample sizes for genetic discovery.
  • Previous research necessitates advanced methods for analyzing large-scale genomic and phenotypic data in diverse populations.

Purpose of the Study:

  • To introduce the Gene-Lifestyle Interactions and Dental Endpoints consortium (GLIDE2) phase 2, comprising over 700,000 participants.
  • To address data analytics challenges in combining heterogeneous population data for oral health genomics.
  • To propose and validate a novel 3-tiered phenotyping strategy for genetic interrogation of dental caries and periodontitis.

Main Methods:

  • Assembled a diverse, multiethnic sample of over 700,000 participants from 21 studies.
  • Developed and applied a 3-tiered phenotyping approach: binary, severity-encompassing, and data-driven clinical traits.
  • Harmonized dental caries experience data from 8 studies (N=55,143) using permanent dentition tooth surface-level traits.

Main Results:

  • Demonstrated the transferability and consistent relative contribution of data-driven dental caries patterns across multiple cohorts.
  • Validated the proposed phenotyping strategy for large-scale genetic analysis in a diverse population.
  • Established these harmonized traits as suitable targets for genetic interrogation within the expanded GLIDE2 sample.

Conclusions:

  • The GLIDE2 consortium's expanded sample and novel phenotyping strategy will significantly advance understanding of oral disease mechanisms.
  • The proposed phenotyping approach effectively leverages large sample sizes and detailed clinical data.
  • Anticipate enhanced international collaboration and data sharing in oral health genomics research.