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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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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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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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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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
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Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

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Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Association Between HACE1 Gene Polymorphisms and Wilms' Tumor Risk in a Chinese Population.

Wei Jia1, Zhijian Deng2, Jinhong Zhu3

  • 1a Department of Pediatric Urology, Guangzhou Women and Children's Medical Center , Guangzhou Medical University , Guangzhou , Guangdong , China.

Cancer Investigation
|December 16, 2017
PubMed
Summary

Genetic variations in the HACE1 gene may influence childhood Wilms tumor risk. A specific HACE1 polymorphism, rs9404576, was linked to a reduced risk of developing this common childhood cancer in a Chinese population.

Keywords:
GWASHACE1PolymorphismSusceptibilityWilms' tumor

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Area of Science:

  • Genetics
  • Pediatric Oncology
  • Molecular Biology

Background:

  • Wilms tumor is a frequent pediatric solid tumor, but its genetic underpinnings are not fully understood.
  • The HACE1 gene is considered a potential susceptibility gene for Wilms tumor.
  • Identifying genetic factors is crucial for understanding Wilms tumor development.

Purpose of the Study:

  • To investigate the association between HACE1 gene polymorphisms and Wilms tumor susceptibility.
  • To determine if specific HACE1 variants increase or decrease the risk of developing Wilms tumor in a Chinese cohort.

Main Methods:

  • Case-control study design.
  • Genotyping of five HACE1 gene polymorphisms in 145 Wilms tumor patients and 531 healthy controls.
  • Statistical analysis to assess the association between polymorphisms and tumor risk.

Main Results:

  • A significant association was found between the HACE1 rs9404576 polymorphism and a decreased risk of Wilms tumor.
  • No significant associations were observed for the other four HACE1 polymorphisms studied.
  • The rs9404576 variant appears to have a protective effect against Wilms tumor.

Conclusions:

  • The HACE1 rs9404576 polymorphism may play a role in Wilms tumor susceptibility within the Chinese population.
  • Further research is warranted to elucidate the functional mechanisms of HACE1 in Wilms tumor pathogenesis.
  • HACE1 genetic variants could be potential biomarkers for Wilms tumor risk assessment.