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Updated: Jun 19, 2026
09:41
Quantification of Monocyte Transmigration and Foam Cell Formation from Individuals with Chronic Inflammatory Conditions
Published on: October 17, 2017
Sequence variants in three loci influence monocyte counts and erythrocyte volume
Manuel A R Ferreira1, Jouke-Jan Hottenga, Nicole M Warrington
1Queensland Institute of Medical Research (QIMR), Brisbane, QLD 4029, Australia. manuel.ferreira@qimr.edu.au
American Journal of Human Genetics
|October 27, 2009
Summary
Researchers identified three novel genetic regions linked to blood cell traits using whole-genome association studies. These findings offer new insights into blood cell regulation and related diseases.
Area of Science:
- Genetics and Genomics
- Hematology
- Complex Disease Etiology
Background:
- Blood cell homeostasis is crucial for health, and its dysregulation contributes to Mendelian and common diseases like atherosclerosis.
- Understanding the genetic underpinnings of hematological traits is key to deciphering hemopoietic and disease mechanisms.
Purpose of the Study:
- To identify novel quantitative trait loci (QTL) associated with hematological traits through a whole-genome association study.
- To gain new insights into the genetic regulation of blood cell production and function.
Main Methods:
- Conducted a whole-genome association study on 1.8 million variants across 13 hematological traits in 6015 individuals from Australian and Dutch populations.
- Analyzed traits including hemoglobin composition, platelet counts, and red and white blood cell indices.
- Replicated significant findings in an independent cohort of 1543 individuals.
Main Results:
- Identified three novel genomic regions associated with hematological traits.
- Discovered a locus on chromosome 9q31 near LPAR1 associated with monocyte counts (rs7023923, p=8.9x10(-14)), explaining 1.5% of variation.
- Found a locus on chromosome 6p21 associated with mean cell erythrocyte volume (rs12661667, p=1.2x10(-9)) and another on 6q24 (rs592423, p=5.3x10(-9)) for erythrocyte volume, explaining 0.7% and 0.6% variance, respectively.
- All identified loci showed significant replication in an independent cohort.
Conclusions:
- The study identified three novel QTL, providing new genetic targets for understanding blood cell regulation.
- These findings contribute to the understanding of hemopoietic cell fate and may offer insights into disease mechanisms.
- The identified loci represent significant advancements in the genetic landscape of hematological traits.
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