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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,...
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...
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...
Regression Toward the Mean01:52

Regression Toward the Mean

Regression toward the mean (“RTM”) is a phenomenon in which extremely high or low values—for example, and individual’s blood pressure at a particular moment—appear closer to a group’s average upon remeasuring. Although this statistical peculiarity is the result of random error and chance, it has been problematic across various medical, scientific, financial and psychological applications. In particular, RTM, if not taken into account, can interfere when researchers try to extrapolate results...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: 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...

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Related Experiment Video

Updated: May 9, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

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

Published on: June 21, 2018

Single-nucleotide polymorphism associations with preterm delivery: a case-control replication study and

Michael E O'Callaghan1, Alastair H MacLennan, Gai L McMichael

  • 1Discipline of Obstetrics and Gynaecology, School of Paediatrics and Reproductive Health, Robinson Institute, University of Adelaide, Adelaide, South Australia, Australia.

Pediatric Research
|July 10, 2013
PubMed
Summary
This summary is machine-generated.

This study investigated genetic links to preterm birth (PTB) in Caucasians. Fetal factor V Leiden (FVL) mutation was found to increase PTB risk, confirmed by meta-analysis.

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Modeling Ascending Vaginal Infection, Preterm Birth, and Neonatal Morbidity in Mice
04:18

Modeling Ascending Vaginal Infection, Preterm Birth, and Neonatal Morbidity in Mice

Published on: October 10, 2025

Area of Science:

  • Genetics
  • Reproductive Health
  • Perinatal Medicine

Background:

  • Preterm birth (PTB) is a significant global health concern.
  • Genetic factors play a role in PTB etiology.
  • Identifying specific genetic associations can inform prevention strategies.

Purpose of the Study:

  • To replicate associations between single-nucleotide polymorphisms (SNPs) and PTB.
  • To synthesize existing evidence on PTB-associated SNPs using meta-analysis.
  • To investigate the role of fetal factor V Leiden (FVL) mutation in PTB risk.

Main Methods:

  • Systematic literature review of candidate SNPs from a genotype panel.
  • Replication of SNP associations in a cohort of 170 PTB cases and 583 controls.
  • Meta-analysis of studies reporting SNP associations with PTB.

Main Results:

  • Eight SNPs were selected as PTB candidates based on literature review.
  • Fetal factor V Leiden (FVL) mutation showed a significant association with PTB in the study cohort (OR: 2.6, 95% CI: 1.31-5.17).
  • Meta-analysis confirmed the association between fetal FVL mutation and PTB (OR: 2.71, 95% CI: 1.15-6.4).

Conclusions:

  • Replication and meta-analysis support an increased risk of PTB in Caucasians carrying the fetal FVL mutation.
  • The fetal FVL mutation is a potential genetic risk factor for spontaneous preterm birth in Caucasian populations.