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Related Concept Videos

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.
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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,...
Polygenic Traits01:18

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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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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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Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing (ChIP-seq)
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Candidate genes and risk for CP: a population-based study.

Yvonne W Wu1, Lisa A Croen, Andrew Vanderwerf

  • 1Department of Neurology, University of California, San Francisco, California 94143, USA. wuy@neuropeds.ucsf.edu

Pediatric Research
|August 23, 2011
PubMed
Summary
This summary is machine-generated.

Genetic factors may influence cerebral palsy (CP) risk. While some polymorphisms like iNOS-231 and apoE ε4 showed initial associations, further analysis revealed no statistically significant link between these genetic variations and CP after accounting for multiple comparisons.

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Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Genetic polymorphisms are hypothesized to increase susceptibility to cerebral palsy (CP).
  • Previous findings linking specific genetic variations to CP require independent cohort validation.
  • This study investigates genetic associations with CP in a large, well-defined neonatal cohort.

Purpose of the Study:

  • To examine the association between specific genetic polymorphisms and the risk of developing cerebral palsy (CP).
  • To validate previously reported genetic associations with CP in an independent cohort.

Main Methods:

  • A case-control study nested within a cohort of 334,333 infants born between 1991-2002.
  • Inclusion criteria: non-Hispanic white infants ≥36 weeks gestation with available neonatal blood samples.
  • Genotyping of polymorphisms including iNOS-231, apoE ε2/ε4, TNF-α-308, IL-8 -251, and others; 138 CP cases and 165 controls.

Main Results:

  • The iNOS-231 T allele and apoE ε4 allele were more frequent in CP cases than controls (p=0.04 for both).
  • These associations did not reach statistical significance after correction for multiple comparisons.
  • No statistically significant association was found between any tested genetic polymorphism and CP.

Conclusions:

  • While initial analyses suggested a potential link between iNOS-231 and apoE ε4 alleles and CP, these findings were not robust.
  • This study did not find statistically significant evidence supporting an association between the investigated genetic polymorphisms and cerebral palsy.
  • Further research may be needed to identify definitive genetic markers for CP susceptibility.