Related Experiment Video
Updated: Apr 19, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
NLRP1 L155H Polymorphism is a Risk Factor for Preeclampsia Development.
Alessandra Pontillo1, Edione C Reis1, Pamela N Bricher1
1Laboratory of Immunogenetics, Department of Immunology, Institute of Biomedical Sciences, University of Sao Paulo/USP, Sao Paulo, SP, Brazil.
Genetic variations in inflammasome genes, particularly NLRP1, are linked to preeclampsia development. This study investigated inflammasome gene polymorphisms and their association with preeclampsia in Brazilian women.
Area of Science:
- Genetics
- Immunology
- Obstetrics
Background:
- Elevated Interleukin-1 beta (IL-1ß) levels are implicated in preeclampsia pathogenesis.
- The inflammasome complex is crucial for processing and secreting IL-1ß.
Purpose of the Study:
- To investigate the association between genetic polymorphisms in inflammasome pathway genes and preeclampsia.
- To explore the role of specific inflammasome gene variants in preeclampsia development.
Main Methods:
- Analysis of selected polymorphisms in NLRP1, NLRP3, CARD8, and IL1B genes.
- Study included 286 Brazilian women diagnosed with preeclampsia and 309 healthy controls.
Main Results:
- A significant association was found between the NLRP1 variant rs12150220 (L155H) and preeclampsia.
- The NLRP1 variant showed an odds ratio of 1.58 for preeclampsia development.
Conclusions:
- The NLRP1 gene variant rs12150220 (L155H) may play a role in the pathogenesis of preeclampsia.
- Inflammasome receptor variations contribute to this complex obstetric disorder.
More Related Videos
07:26High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
Published on: July 18, 2017
05:31Author Spotlight: Modeling an Aspect of Preeclampsia in Female Mice Using Hypoxic Human Placenta-Derived Small Extracellular Vesicles
Published on: January 26, 2024
Related Concept Videos
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Non-LTR Retrotransposons
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters
Pharmacogenomics: Identification of New Drug Targets