Diverse CD36 expression among Japanese population: defective CD36 mutations cause platelet and monocyte CD36 reductions in not only deficient but also normal phenotype subjects
Diverse CD36 expression among Japanese population: defective CD36 mutations cause platelet and monocyte CD36 reductions in not only deficient but also normal phenotype subjects
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DOI：
10.1016/j.thromres.2015.03.002
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发表时间：
2015-05-01
影响因子：
7.5
通讯作者：
Moriyama, Takanori
中科院分区：
文献类型：
--
作者：
Masuda, Yuya;Tamura, Shogo;Moriyama, Takanori
CD36是一种多功能糖蛋白，表达于多种人体细胞，包括血小板和单核细胞。5种CD36基因突变（C268T、949insA、329-339del、1228-1239del和629-631del/insAAAAC）是导致日本CD36缺陷表型的主要原因。也有报道称，在正常表型个体中，血小板CD36的表达差异很大。在这里，为了进一步了解CD36表达，我们研究了日本人群中血小板和单核细胞CD36表达水平与缺陷突变之间的关系。材料与方法：采集日本健康志愿者135例血液样本。流式细胞术定量分析CD36在血小板和单核细胞中的表达水平。采用Real-time PCR、PCR- rflp和等位基因特异性PCR检测突变基因型。结果：在该人群中，我们分别发现2名（1.5%）和9名（6.7%）cd36缺陷受试者为I型和II型。在正常表型受试者中，CD36表达水平范围为1,259至11,002（4,487 +/- 2,017）分子/血小板和211至5,150（1,628 +/- 986）分子/单核细胞。基因分型分析显示，在正常（12.9%）和ii型缺陷（66.7%）受试者中存在缺陷突变的杂合子，这些杂合子突变导致血小板和单核细胞上CD36表面表达降低。结论：CD36杂合突变是导致正常表型受试者血小板和单核细胞CD36表面表达水平多样性的因素之一。(C) 2015 Elsevier Ltd.版权所有。
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 andMethods: 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. (C) 2015 Elsevier Ltd. All rights reserved.