caa a22 4500 378849441 CHVBK 20180305123319.0 cr unu---uuuuu 161128e20030919xx s 000 0 eng 10.1515/CCLM.2003.198 doi (NATIONALLICENCE)gruyter-10.1515/CCLM.2003.198 A Common Truncated Variant of Lipoprotein Lipase in the Japanese Population Is Characterized by Pattern B Phenotype [Elektronische Daten] [Jiangzhen Li, Akira Kondo, Takashi Kanno, Masato Maekawa] To investigate the relationship between the lipoprotein lipase Ser447Ter (S447X) mutation, lipid profiles and risk of atherosclerotic disease, we studied two groups of Japanese subjects. These groups consisted of a dyslipidemic group (triglyceride (TG) >1.69 mmol/l and high-density lipoprotein-cholesterol (HDL-C) = 0.91 mmol/l; n = 106) and a control group (TG = 1.69 mmol/l and HDL-C ≥1.16 mmol/l; n = 106). All subjects in the control group were confirmed to the pattern A phenotype (normal low-density lipoprotein (LDL) pattern), and 21 individuals in this group were heterozygous for the S447X mutation, but not homozygous. In the patient group, pattern A was shown by 44 of 106 patients. The rest were of the pattern B phenotype, which is associated with an increased risk of coronary heart disease. Homozygosity was concentrated in the patient group (p < 0.05) and in those with the pattern B phenotype (p < 0.05). In contrast, heterozygosity between both groups was not statistically significant. In conclusion, heterozygous and homozygous status with respect to the LPL S447X mutation appears to have different meanings with respect to biochemical and clinical phenotypes of atherosclerosis. Clin Chem Lab Med 2003; 41(10):13041308 Copyright © 2003 by Walter de Gruyter GmbH & Co. KG Medical equipment & techniques nationallicence Medical diagnosis nationallicence Diseases & disorders nationallicence Li Jiangzhen aut Kondo Akira aut Kanno Takashi aut Maekawa Masato aut Clinical Chemistry and Laboratory Medicine Walter de Gruyter 41/10(2003-09-19), 1304-1307 1434-6621 41:10<1304 2003 41 cclm https://doi.org/10.1515/CCLM.2003.198 text/html Onlinezugriff via DOI 1 research article jats NATIONALLICENCE 856 40 https://doi.org/10.1515/CCLM.2003.198 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Li Jiangzhen aut NATIONALLICENCE 700 1- Kondo Akira aut NATIONALLICENCE 700 1- Kanno Takashi aut NATIONALLICENCE 700 1- Maekawa Masato aut NATIONALLICENCE 773 0- Clinical Chemistry and Laboratory Medicine Walter de Gruyter 41/10(2003-09-19), 1304-1307 1434-6621 41:10<1304 2003 41 cclm CC0 http://creativecommons.org/publicdomain/zero/1.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-gruyter