Related Experiment Video

Updated: Apr 1, 2026

A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-19
06:46

A High-Throughput Multiplexed Screening for Type 1 Diabetes, Celiac Diseases, and COVID-19

Published on: July 5, 2022

3.4K

Genetic sharing and heritability of paediatric age of onset autoimmune diseases

Yun R Li1,2, Sihai D Zhao3, Jin Li1

  • 1Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

Nature Communications
|October 10, 2015
PubMed

Insights

This study quantifies the heritability of pediatric autoimmune diseases (pAIDs) using genomic variations. It reveals significant genetic contributions for Type 1 Diabetes and Juvenile Idiopathic Arthritis, uncovering shared genetic risks among pAIDs.

Area of Science:

  • Genetics
  • Immunology
  • Pediatrics

Background:

  • Autoimmune diseases (AIDs) are polygenic conditions affecting 7-10% of the Western Hemisphere population.
  • Effective therapies for AIDs remain limited, necessitating further research into their genetic underpinnings.
  • Paediatric AIDs (pAIDs) represent a significant subset of these complex diseases.

Purpose of the Study:

  • To quantify the heritability of various pAIDs attributable to common genomic variations (SNP-h²).
  • To identify shared and disease-specific genomic variations contributing to pAID heritability.
  • To explore correlations and genetic risk sharing among different pAIDs.

Main Methods:

  • Utilized SNP-h² to estimate the heritability of pAIDs, including JIA, SLE, CEL, T1D, UC, CD, PS, SPA, and CVID.
  • Performed pairwise analysis to determine correlations between different autoimmune diseases.
  • Investigated the contribution of Major Histocompatibility Complex (MHC) variations to heritability estimates.

Main Results:

  • Significant SNP-h² estimates were observed for Type 1 Diabetes (T1D) (0.863) and Juvenile Idiopathic Arthritis (JIA) (0.727).
  • Modest heritability was found for Ulcerative Colitis (UC) (0.386) and Crohn's Disease (CD) (0.454).
  • Strongest correlations were found between UC-CD (0.69) and JIA-CVID (0.343), indicating shared genetic risks.

Conclusions:

  • Common genomic variations significantly contribute to the heritability of pAIDs.
  • Identified unexpected shared genetic risks among pAIDs, particularly between UC and CD, and JIA and CVID.
  • Results partition genomic contributions, differentiating shared and disease-specific variations in pAID heritability.

More Related Videos

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.8K
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.6K

Related Concept Videos

Autoimmune Disorders01:29

Autoimmune Disorders

Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
The immune...
2.2K
Human Genetics01:28

Human Genetics

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.
The complex relationship between genetics and psychology is observable through common biological components such...
1.9K
Pedigree Analysis01:35

Pedigree Analysis

Overview
90.9K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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.
GWAS does not require the identification of the target gene involved in...
16.7K
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

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.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
1.3K
Heritability01:06

Heritability

Heritability is a statistical concept that measures the degree to which genetic differences among individuals contribute to trait variations within a population. It is a fundamental idea in genetics, often prone to misinterpretation. Heritability is expressed as a percentage, reflecting the proportion of variation in a specific trait across a population that can be linked to genetic differences. However, it's important to understand that heritability does not determine how "genetic"...
883