Related Experiment Video
Updated: May 26, 2026
05:53
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Association analysis identifies ZNF750 regulatory variants in psoriasis
Ramon Y Birnbaum1, Genki Hayashi, Idan Cohen
1Department of Dermatology, University of California, San Francisco, California, USA.
BMC Medical Genetics
|December 22, 2011
Summary
Genetic variants in ZNF750, a candidate psoriasis gene, were investigated. Rare promoter and 5' untranslated region (UTR) variants were associated with psoriasis, potentially modifying the condition.
Area of Science:
- Genetics
- Dermatology
- Molecular Biology
Background:
- Mutations in ZNF750 have been linked to Mendelian psoriasis.
- ZNF750 encodes a transcription factor highly expressed in keratinocytes.
- ZNF750 is a candidate gene for psoriasis development.
Purpose of the Study:
- To investigate the association of ZNF750 variants with psoriasis in a large cohort.
- To identify specific ZNF750 genetic variations contributing to psoriasis risk.
Main Methods:
- Sequencing of ZNF750 promoter and exon regions in 716 psoriasis cases and 397 controls.
- Association testing for ZNF750 haplotypes and variants.
- Functional promoter assays in human keratinocytes.
Main Results:
- Identified 47 ZNF750 variants, including 35 novel rare variants.
- Two ZNF750 haplotypes were associated with psoriasis (p < 0.05).
- An excess of rare promoter and 5' UTR variants was observed in psoriasis cases.
- Four promoter/5' UTR variants reduced ZNF750 promoter activity by 35-55%.
Conclusions:
- Two ZNF750 haplotypes are associated with psoriasis.
- Rare 5' regulatory variants of ZNF750 are associated with psoriasis.
- These variants may act as genetic modifiers for psoriasis, though not strictly causal.
Related Concept Videos
01:11Genome-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...
GWAS does not require the identification of the target gene involved in...
01:05Single Nucleotide Polymorphisms-SNPs
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,...
01:29Pharmacogenomics: Identification of New Drug Targets
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
02:26Comparing Copy Number Variations and SNPs
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.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
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...
01:35Pedigree Analysis
Overview