To find out whether CD36 plays a role in the human lipoprotein metabolism, we studied lipoprotein profiles in subjects with CD36 deficiency. Apparently healthy Japanese volunteers (n = 790) were classified by flow cytometry into three groups of normal (platelet and monocyte CD36+, n = 741, 93.8%), type‐II deficiency (platelet CD36− and monocyte CD36+, n = 45, 5.7%), and type‐I deficiency (platelet and monocyte CD36−, n = 4, 0.5%). At least one of reported mutations in the CD36 gene was found in all four subjects with type‐I deficiency and in 23 of the 45 subjects with type II. Among 779 subjects (731 normals, 44 type II, and four type I) with serum triglyceride levels of <400 mg/dL, serum total cholesterol and low‐density lipoprotein (LDL) cholesterol were significantly elevated in type‐II deficiency (P = 0.0095 and 0.0382 versus normal, respectively, Scheffe's F‐test), while differences were not significant in triglyceride and high‐density lipoprotein‐cholesterol. Similar tendency was observed in type‐I deficiency, although the differences were not statistically significant because of small sample size. We conclude that CD36 deficiency elevates LDL cholesterol, indicating a contribution of CD36 to LDL metabolism. Am. J. Med. Genet. 93:299–304, 2000. © 2000 Wiley‐Liss, Inc.