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Background: CD36 is a multifunctional membrane receptor and is expressed in several cell lines. Individuals who lack platelet (PLT) CD36 are at risk for immunization against this antigen, leading to several clinical syndromes. This study aimed to investigate the frequency and molecular basis of CD36 deficiency in Shanghai., Study Design and Methods: Whole blood samples were collected from healthy blood donors, and the PLTs and monocytes were analyzed using flow cytometry to determine CD36 deficiency type. After genomic DNA was extracted, Exons 3 to 14 of CD36 gene including a part of relevant flanking introns were amplified. Direct nucleotide sequencing and sequence alignment were performed. The samples that showed mutations were confirmed by clonal sequencing., Results: Of the 1022 healthy blood donors analyzed, 22 individuals failed to express CD36 on PLTs; two of them expressed no CD36 on their monocytes either. These results demonstrated that the frequencies of Type I (lacking CD36 expression on PLTs and monocytes) and Type II (lacking CD36 expression on PLTs only) CD36 deficiency among the study population were 0.2 and 2.0%, respectively. Nucleotide sequencing analysis revealed nine different mutations including six mutations that were not yet reported. The most frequent mutations among the study population were 329-330delAC and 1228-1239delATTGTGCCTATT., Conclusion: The study findings have confirmed the fact that the frequency of CD36 deficiency in the Chinese population is slightly lower than that in other Asian countries. The identification of several new mutation types indicated the polymorphism of CD36 gene in the Shanghai population., (© 2014 AABB.)

Stroke is a multiple genetic disease. Platelet-derived growth factor-D has been found to be involved in the pathogenesis of atherosclerosis, suggesting possible association between platelet-derived growth factor-D and the development of ischemic stroke. However, little information on the relationship between platelet-derived growth factor-D and stroke is currently available. The aim of this study was to investigate the association between platelet-derived growth factor-D genetic variation and the risk of ischemic stroke in a Chinese population. We conducted a case-control study with 309 ischemic stroke patients and 309 sex and age (<5 years)-matched controls. DNA was extracted from the whole blood of each participant. Platelet-derived growth factor-D C/G polymorphism at position +3166 (rs7950273) was detected by TaqMan SNP genotyping assay. Overall, the combined rates of platelet-derived growth factor- D CG and GG are 51% in patients in contrast with 46% in controls. There were no significant differences in the genotype frequencies of platelet-derived growth factor-D +3166 polymorphisms between the patients and controls with history or family history of hypertension or diabetes (P = 0.770). However, among people without history or family history of hypertension or diabetes, platelet-derived growth factor-D CG/GG is significantly more frequently expressed in patients (60%) than in controls (43%) (odds ratio 1.97; 95% confidence interval 1.19-3.26). This significant association holds after adjustment for age, sex, smoking and alcohol intaking (odds ratio 1.86; 95% confidence interval 1.11-3.10) (P = 0.018). Our study found that the G allele of rs7950273 of the platelet-derived growth factor-D gene is associated with higher risk of ischemic stroke in a Chinese population without history or family history of hypertension or diabetes. Future studies with larger and ethnically diverse populations are needed to further evaluate the platelet-derived growth factor-D polymorphism and stroke association, as well as its pathophysiological mechanisms.