Deoxyribonucleic acid polymorphism in the apolipoprotein A-1-C-III gene cluster. Association with hypertriglyceridemia.

Abstract

A DNA sequence polymorphism, revealed by digestion of human DNA with the restriction endonuclease Sst-1 and hybridization with an apolipoprotein A-I complementary DNA clone, has been shown to be located in or close to the 3' noncoding region of the apolipoprotein C-III gene. This polymorphism is found in significantly increased prevalence (P < 0.001) in Caucasian hypertriglyceridemic subjects compared with race-matched controls, and its distribution in normal individuals of differing racial origins is reported. Furthermore, no alteration of high density lipoprotein or apolipoprotein A-I and apolipoprotein C-III phenotypes was observed in individuals with or without the polymorphism.

Study of apolipoproteinc3 Sstl polymorphism in healthy volunteers from Northern India

“…We found that the distribution of different genotypes in our study subjects was closer to those reported for Chinese (4), Mayans (5), Japanese (6,7,8), Koreans (9), Taiwanese (10) Arabs (11,12). Frequency of $2 allele was also comparable which is higher in these populations as compared to those from different parts of Europe (2,3,(13)(14)(15)(16)(17), USA (18) and French (Canada) (19) (Table-2). The results corroborates with our previous findings (25).…”

“…Table-2 (18) and French (Canada) (19) populations. Most of these studies found a relationship between the presence of $2 allele and hypertriglyceridemia (2)(3)(4)(5)(6)9,11,(13)(14)(15)(16)18,(20)(21)(22). An association of this allele with CAD was also reported (26)(27)(28).…”

“…An Sstl polymorphism resulting from a C->G base transversion in 3' untranslated region of APOC3 gene had been studied extensively in relation to hypertriglyceridemia . Here, the rare $2 allele apparently predisposes an individual to hypertriglyceride mia (2)(3)(4)(5)(6)9,11,(13)(14)(15)(16)18,(20)(21)(22). Asian Indians are reported to have high genetic predisposition to develop CAD.…”

Apolipoprotein CIII polymorphism and triglyceride levels of a Japanese population living in Southern Brazil

“…The frequency of the less common allele (S2) varies among different ethnic groups. In several case-control studies, this Sst I polymorphism has been associated with high triglyceride (HTG), similar to the Japanese population (N = 40; P < 0.025), Arabs of Kuwait (N = 38; P < 0.001) and Caucasians (N = 52; P < 0.001) (9)(10)(11)(12).…”

The genetic background modifies the effects of the obesity mutation, ‘fatty’, on apolipoprotein gene regulation in rat liver

“…The genes coding for apoA-IV, apoC-III, and apoA-I are arranged in a gene complex 3 located on human chromosome 11. In humans allelic variation in this complex has been associated with hyperlipoproteinaemia, 4 with hypertriglyceridaemia in obesity, 5 with the response of plasma lipid levels to diet, 6 and with atherosclerotic disease. 7 ApoA-IV is a component of triglyceride-rich lipoproteins, of HDL, and of the lipoprotein free plasma fraction.…”