Lipoprotein lipase and APOE/APOC‐I/APOC‐II gene cluster diversity in native Brazilian populations

Abstract

Allele and haplotype frequencies for the T-93G, Hind III, and Pvu II variants of the lipoprotein lipase gene (LPL), and Hpa I and Ava II restriction site polymorphisms (RSP) of the APOE/C-I/C-II gene cluster were determined in 143 individuals from five Brazilian Indian tribes. These results were integrated with those previously reported for APOE. Marked interethnic variability occurs in these sites. A strong linkage disequilibrium was observed between the APOE and APOC-I loci (D' = 0.81; P < 0.00001). Linkage disequilibrium between the Hind III and Pvu II RSPs of the LPL gene was also observed (D' = 1; P < 0.001), but none of these RSPs were in linkage disequilibrium with the T-93G mutation. Considering both loci, heterozygosity was estimated as 0.45, but it was lower in the Xavante and Surui populations, in accordance with the historical and biodemographical data of these Amerindians. The results reported here may have implications for understanding interpopulation differences in lipid levels and coronary heart disease prevalences.

Apolipoprotein E/C1/C4/C2 Gene Cluster Diversity in Two Native Andean Populations: Aymaras and Quechuas

“… APOE isoform frequencies in Native South Americans. Numbers refer to references: 1, Crews et al, 1993; 2, Scacchi et al, 1997; 3, de Andrade et al, 2000; 4, de Andrade et al, 2002; 5, Marin et al, 1997; 6, JV Nel (de Andrade et al, 2000); 7, Demarchi et al, 2005; 8, Jaramillo‐Correa et al, 2001; 9, present work. …”

“…Population differentiation between samples was evaluated using an exact G test (Genepop v4; Raymond & Rousset, 1995) for the allele frequencies of the 25 markers. Comparisons were performed at different levels depending on the available data from other Native American groups: (i) three loci (rs405509, rs5167, rs11668758) in five populations from the HGDP‐CEPH Project: Karitiana (14 individuals) and Surui (8) from Brazil, Piapoco and Curripaco from Colombia (7), and Maya (21) and Pima (14) from Mexico; (ii) one locus (rs11568822) in five Brazilian samples (de Andrade et al, 2002): WaiWai (29), Xavante (31), Gaviao (29), Zoró (30), and Surui (24); and (iii) APOE isoforms in 37 Native South American populations. In addition, population structure was explored considering the 39 populations for the APOE isoforms through a hierarchical AMOVA with Arlequin v3.1, using geographical criteria (tropical forest, southern corn—according to Demarchi et al (2005)—and Andes).…”

“…To date, studies in Native Americans have mainly reported APOE isoform frequencies (Crews et al, 1993; Marin et al, 1997; Scacchi et al, 1997; de Andrade et al, 2000; Jaramillo‐Correa et al, 2001; Demarchi et al, 2005). An additional study provided data for two polymorphisms in the APOC1 and APOC2 genes in five Brazilian samples (de Andrade et al, 2002). Moreover, there are genome‐wide SNP data available for several Native American groups from the Human Genome Diversity Project (HGDP)‐Centre d'Etude du Polymorphisme Humain (CEPH) project, although sample sizes are very small (n < 15; Jakobsson et al, 2008; Li et al, 2008).…”

Apolipoprotein E polymorphism distribution in an elderly Brazilian population: the Bambuí Health and Aging Study

“…Community-based studies on ApoE polymorphism conducted in well-defined Brazilian populations are scarce (25), and all of them were small, involving populations of less than 500 subjects (8,9,(25)(26)(27)(28)(29)(30). The present study describes ApoE allele and genotype distribution in an elderly communitybased sample of 1408 subjects, and its association with age, gender and skin color.…”

Apolipoprotein E polymorphism distribution in an elderly Brazilian population: the Bambuí Health and Aging Study

“…In Fortaleza city, also in northeastern Brazil, the corresponding findings among 72 shantytown children were 77.1, 14.6, and 8.3%, respectively (28). Previous studies of ApoE polymorphism in small samples of native Brazilian and South Ameri-can populations (8,9,26,29) found a highly heterogeneous distribution of alleles with a predominance of ε3 (frequency range: 51-98%), followed by ε4 (0-47%) and ε2 (0-4%).…”