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Diverse CD36 expression among Japanese population: defective CD36 mutations cause platelet and monocyte CD36
Yuya Masuda1, Shogo Tamura2, Kazuhiko Matsuno3
1Graduate School of Health Sciences, Hokkaido University, Sapporo, Hokkaido, Japan; Division of Laboratory and Transfusion Medicine, Hokkaido University Hospital, Sapporo, Hokkaido, Japan.
Insights
Heterozygous CD36 mutations influence CD36 glycoprotein expression on platelets and monocytes in the Japanese population. These mutations contribute to variations in CD36 levels among individuals with normal phenotypes.
Area of Science:
- Immunology
- Genetics
Background:
- CD36 is a crucial glycoprotein found on human platelets and monocytes.
- Specific CD36 gene mutations are linked to CD36-deficient phenotypes in Japan.
- Significant variability in platelet CD36 expression exists among normal individuals.
Purpose of the Study:
- To investigate the relationship between CD36 expression levels on platelets and monocytes.
- To determine the association with specific CD36 gene mutations in the Japanese population.
Main Methods:
- Quantitative analysis of CD36 expression on platelets and monocytes using flow cytometry.
- Detection of CD36 mutant genotypes via real-time PCR, PCR-RFLP, and allele-specific PCR.
- Blood samples from 135 healthy Japanese volunteers were analyzed.
Main Results:
- Identified 1.5% (Type I) and 6.7% (Type II) CD36-deficient subjects.
- Normal CD36 expression varied widely: 1,259-11,002 molecules/platelet and 211-5,150 molecules/monocyte.
- Heterozygous mutations were found in 12.9% of normal and 66.7% of Type II subjects, correlating with reduced CD36 expression.
Conclusions:
- Heterozygous CD36 mutations are a contributing factor to the diverse CD36 surface expression levels observed in normal individuals.
- These findings enhance understanding of CD36 regulation and its variability.
Introduction:
CD36 is a multifunctional glycoprotein expressed on various human cells, including platelets and monocytes. Five CD36 gene mutations (C268T, 949insA, 329-339del, 1228-1239del and 629-631del/insAAAAC) are mainly responsible for CD36-deficient phenotypes in Japan. It has also been reported that platelet CD36 expression varies widely among normal phenotype individuals. Here, in order to obtain further insight into CD36 expression, we investigated the association between platelet and monocyte CD36 expression levels and defective mutations in the Japanese population.
Materials And Methods:
Blood samples were collected from 135 healthy Japanese volunteers. CD36 expression levels on platelets and monocytes were quantitatively analyzed by flow cytometry. Real-time PCR, PCR-RFLP and allele-specific PCR were performed to detect mutant genotypes.
Results:
In this population, we found 2 (1.5%) and 9 (6.7%) CD36-deficient subjects as type I and type II, respectively. Among normal phenotype subjects, CD36 expression levels ranged from 1,259 to 11,002 (4,487±2,017) molecules/platelet and from 211 to 5,150 (1,628±986) molecules/monocyte. Genotyping assay showed that heterozygotes with the defective mutations were present in normal (12.9%) and type II-deficient (66.7%) subjects, and that these heterozygous mutations led to decreases in CD36 surface expression on platelets and monocytes.
Conclusions:
Heterozygous CD36 mutations, previously known to lead to deficiency in this molecule, are one of the factors responsible for the diversity of CD36 surface expression levels on platelets and monocytes in normal phenotype subjects.
