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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single 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,...
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
Comparing Copy Number Variations and SNPs02:26

Comparing 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%...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic 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...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

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

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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Related Experiment Video

Updated: Jun 16, 2026

Detecting Abnormalities in Choroidal Vasculature in a Mouse Model of Age-related Macular Degeneration by Time-course Indocyanine Green Angiography
10:24

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Published on: February 19, 2014

SERPING1 polymorphisms in polypoidal choroidal vasculopathy.

Meng Li1, Feng Wen, Chengguo Zuo

  • 1State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.

Molecular Vision
|February 18, 2010
PubMed
Summary
This summary is machine-generated.

Common genetic variants in the SERPING1 gene are not associated with polypoidal choroidal vasculopathy (PCV) in the Chinese Han population. This study found no evidence linking SERPING1 variants to PCV susceptibility.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Polypoidal choroidal vasculopathy (PCV) is a significant cause of vision loss.
  • The genetic factors contributing to PCV susceptibility require further investigation.
  • The complement component 1 inhibitor gene (SERPING1) is a potential candidate for genetic association studies in PCV.

Purpose of the Study:

  • To investigate the association between common genetic variants in the SERPING1 gene and PCV.
  • To determine if specific single nucleotide polymorphisms (SNPs) or haplotypes in SERPING1 are risk factors for PCV in a Chinese Han population.

Main Methods:

  • Genotyping of four tag SNPs (rs2509897, rs1005510, rs11603020, rs2511989) in the SERPING1 gene was performed using PCR restriction fragment length polymorphism and DNA sequencing.
  • A cohort of 118 PCV patients and 115 healthy controls from the Chinese Han population was analyzed.
  • Haplotype analysis was conducted across the SERPING1 gene.

Main Results:

  • No significant association was found between any of the four tag SNPs in SERPING1 and PCV (p=0.41-0.83).
  • Evaluation of common haplotypes within the SERPING1 gene also did not reveal any association with PCV (p=0.49-0.82).
  • The previously reported age-related macular degeneration-related risk factor SNP, rs2511989, showed no association with PCV in this cohort.

Conclusions:

  • This study found no evidence to support the role of common SERPING1 gene variants in the susceptibility to PCV.
  • The investigated SERPING1 variants, including rs2511989, do not appear to be major genetic risk factors for PCV in the Chinese Han population.