This is the published version, also available here: http://www.jstor.org/stable/41465798

Bejean, Cristina B.

Carnese, Francisco R.

Colantonio, Sonia E.

Crawford, Michael H.

De Basualdo, Maria De Los Angeles L.

De Stefano, G. F.

Demarchi, Dario A.

Goicechea, Alicia S.

Guevara, Angel G.

Hill, Kim

Hurtado, A. Magdalena

Hutz, Mara H.

Marcellino, Alberto J.

Salzano, Francisco M.

English

KU ScholarWorks

Apolipoprotein В Signal Peptide Polymorphism Distribution among South Amerindian Populations DARÍO A. DEMARCHI,1' ALBERTO J. MARCELLINO,1' MARÍA DE LOS ANGELES L. DE BASUALDO, SONIA E. COLANTONIO, G.F. DE STEFANO,5 MARA H. HUTZ,6 FRANCISCO M. SALZANO,6 KIM HILL,7 A. MAGDALENA HURTADO,7 FRANCISCO R. CARNESE,8 ALICIA S. GOICOECHEA,8 CRISTINA B. DEJEAN,8 ANGEL G. GUEVARA, 9AND MICHAEL H. CRAWFORD2 Abstract We report the distribution f the АРОВ signal peptide poly- morphism in 5 native populations of South America: 2 samples of Mataco and 1 sample each of Pilagá and Toba from the Argentinian Chaco and 1 sample of Ache from the Paraguay forest. A randomly selected sub- sample of a previously studied sample from the Cayapa of Ecuador (Scacchi et al. 1997) was reanalyzed to investigate probable differences attributable to sampling, laboratory techniques, or interobserver error. The polymorphism observed in the signal peptide region of the АРОВ gene among native populations of South America exhibits the same range of variation found among geographic continental populations, confirming the high genetic heterogeneity of South Amerindians. Extremes in the allele prevalences were found among the Mataco and Ache, populations not far apart geographically. The small differences in genotype and allele frequencies between the subsample of the Cayapa analyzed here and the original Cayapa sample and between the 2 Mataco samples were not statistically significant and most likely were due to sampling error. Apolipoprotein В is a monomelic glycoprotein that plays a central role in lipoprotein metabolism and in maintaining the normal homeostasis of serum 1 Cátedra deAntropología, Facultad deCiencias Exactas, Físicas y Naturales, Universidad N cional de Córdoba, Av. Vélez Sáríield 299, c.c. 395, 5000 Córdoba, Argentina. 2 Laboratory f Biological Anthropology, Department of Anthropology, University of Kansas, Lawrence, KS 66045. 3 Consejo Nacional deInvestigaciones Científicas y Técnicas dela República Argentina, Buenos Aires, Argentina. 4 Departamento de Bi química, Ministerio de Desarrollo Humano, Provincia de Formosa, Formosa, Argentina. 5 Department of Biology, Università "Tor Vergata," Rome, Italy. 6 Departamento de Genética, Instituto de Biociencias, Universidade Fe ral doRio Grande oSul, Caixa Postal 15053, 91501-970 Porto Alegre, RS, Brazil. 7 Department of Anthropology, University of New Mexico, Albuquerque, NM 87131. 8 Instituto de Ciencias Antropológicas, Facultad deFilosofia y Letras, Universidad de Buenos Aires, Buenos Aires, Argentina. 9 Department of Clinical Investigations, Hospital Vozandes, Quito, Ecuador. Human Biology, December 1999, v. 71, no. 6, pp. 995-1000. Copyright © 1999 Wayne State University Press, Detroit, Michigan 48201-1309 KEY WORDS: APOLIPOPROTEIN B, SIGNAL PEPTIDE, AMERINDIANS, SOUTH AMERICA 996 / DEMARCHI ET AL. cholesterol evels (Sparks and Sparks 1985; Peacock et al. 1992). The gene coding for human apolipoprotein В (АРОВ) is 43 kb in length with 81 bp coding for a 27-amino acid signal peptide. This terminal signal sequence directs the emerging protein to translocate through the endoplasmic reticulum membrane. The signal peptide of human АРОВ is of variable length. This polymorphism was first typed directly using the polymerase chain reaction (PCR) by Boerwinkle and Chan (1989). The common alleles are the insertion allele (93 bp), which contains a 27-amino acid signal peptide, and the deletion allele (84 bp), with a 24-amino acid signal peptide resulting from the deletion of leucine-alanine-leucine (Boerwinkle et al. 1991). A significant association was detected between the insertion-deletion polymorphism and plasma glu- cose levels in Europeans and Mexican Americans (Boerwinkle et al. 1991). Some studies have also demonstrated correlations between the insertion- deletion polymorphism and lipid levels (Hansen et al. 1993; Saha et al. 1993; Visvikis et al. 1993; Wu et al. 1994). Anderson et al. (1997) indicated that АРОВ polymorphism affects in- terindividual variation in serum lipoprotein and lipid levels in African pop- ulations. Besides the insertion and deletion alleles, a 99-bp rare allele was detected in African blacks (Anderson et al. 1997), Caucasians (Hixson et al. 1992), and Mexican Americans (Boerwinkle et al. 1990). This allele contains a 29-amino acid signal peptide as a result of the addition of 2 leucines in a region that normally has 6 identical codons for leucine (Hixson et al. 1992). In addition, the existence of 2 other alleles (87 bp and 102 bp) was reported in a large sample of Japanese [S. Naganawa, communication to Genome Data Base (www.gdb.org), 1992]. Although the АРОВ signal peptide polymorphism has been extensively studied in different ethnic groups, there is little information about its distri- bution among Amerindians. In this study we report the distribution of the АРОВ signal peptide polymorphism in 5 native populations of South Amer- ica: the Mataco (2 samples), the Pilagá, and the Toba from the Argentinian Chaco and the Ache from the Paraguayan forest. Included in the analysis is a subsample of a previously studied sample from the Cayapa of Ecuador (Scacchi et al. 1997). Approximately half of the individuals from the original sample were chosen randomly to investigate probable differences attributable to sampling, laboratory technique, or interobserver e ror. Materials and Methods The Mataco (or Wichi), the Toba, and the Pilagá inhabit he southeastern part of the Gran Chaco, a subtropical region that occupies a portion of Par- aguay, Bolivia, and northeastern Argentina. Their traditional way of life is based on fishing, hunting, and the gathering of different wild products, al- though today many migrate for employment to the sugar plantations and other АРОВ Polymorphism in South Amerindians /997 occasional jobs. The Mataco belong to the Mataco linguistic stock, whereas the Toba and the Pilagá are Guaycuru-speaking tribes (Loukotka 1968). The blood specimens studied for 1 of the Mataco samples and the other 2 tribes were sampled in different settlements located in the province of Formosa, Argentina. An additional Mataco population was also ascertained in Santa Vitoria Este, Department of Rivadavia, Salta Province, Argentina. The Ache (also known as the Guayaki, a term that the Ache consider offensive) are 1 of the most southerly representatives of the tropical forest Tupi linguistic stock. They reside in the Alto Paraná area of eastern Paraguay in 5 mission/reservation settlements (Hill and Hurtado 1996). The samples for the present study were obtained at the Arroyo Bandera and Chupa Pou reservations. As clearly characterized by Brown et al. (1974), the Ache pres- ent an external phenotype uncommon for Amerindians. They are surprisingly fair and of short stature, and many males are prematurely bald, a rare trait for American Indians. They have been extensively studied from the demographic, medical, and ecological points of view, and a recent evaluation of their life history was conducted by Hill and Hurtado (1996). The Cayapa live along the Cayapas River and its tributaries in north- western Ecuador (Scacchi et al. 1997). As classified by Loukotka (1968), they speak a Chibchan language that belongs to the northern Andean linguistic division. The Cayapa lifestyle and dietary habits remain almost unaltered by Western contacts. Their diet consists of fruit, vegetables, and products of hunting and fishing (Scacchi et al. 1997). Genomic DNA was extracted from whole blood using both the salting- out procedure of Miller et al. (1988) and the QIAamp blood kit (Qiagen Inc.). Genotypes were determined by means of PCR using the primers and protocol described by Anderson et al. (1997). For each sample approximately 50-100 ng of DNA was amplified in a total volume of 25 jul. The polymorphisms were directly visualized on 3% agarose gels [1/3 NuSieve 3:1 and 2/3 seaKEM (FMC)] after being stained with ethidium bromide. A chi-square goodness-of-fit test was used to test the fit of the observed genotype frequencies to those expected under Hardy-Weinberg equilibrium. Population differences in genotype frequencies were tested for significance by contigency chi-square tests. We follow the nomenclature adopted by Boer- winkle et al. (1991) because it is independent of the typing technique used (such as the position of the amplifying oligonucleotides) and because it makes no assumption about the mechanisms of origin of the alleles, therefore easily allowing for the naming of additional variants. Results and Discussion The distribution of the АРОВ signal peptide genotypes and allele fre- quencies in the populations studied are presented in Table 1. The rare 998 / DEMARCHI ET AL. Table 1. Distribution fthe АРОВ Signal Peptide Polymorphism in Several South Amerindian Populations 5' ßSP Genotype  Population  and Allele Mataco Ia Mataco 2Ъ Toba Pilagá Ache Cayapa Г Cayapa 2d Genotype *24/*24 0 0 0 6 7 10 18 *24/*27 13 14 10 18 38 18 47 *27/*27 26 29 17 19 12 20 31 *27/*29 2 0 0 2 0 0 0 Alleles (%) * 24 16 16 19 33 46 40 43 *27 82 84 81 65 54 60 57 *29 2 0 0 2 0 0 0 a. Salta Province. b. Formosa Province. c. Subsample analyzed in this study. d. Total sample described by Scacchi et al. (1997). 5'ßSP*29 allele was found in only 2 Pilagá and 2 Mataco individuals, both presenting the same genotype (*27/*29). All the other specimens show the 2 more frequent variants previously reported for other populations. The geno- type distributions do not show significant departure from Hardy-Weinberg equilibrium, except among the Ache ( p = 0.009) because of an excess of heterozygotes. This may be a sampling effect. The allele distribution of the Mataco and the Toba is similar to distri- butions found among the Chinese (Saha et al. 1992, 1993) and Japanese [S. Naganawa, communication to Genome Data Base (www.gdb.org), 1992], which is expected when the Asian origin of Amerindians is considered. On the other hand, the allele frequencies observed in the Pilagá, Cayapa, and Ache fall within the range observed in Europeans (Xu et al. 1990; Boerwinkle et al. 1991; Hansen et al. 1993) and Mexican Americans (Boerwinkle et al. 1990). The intergroup chi-square comparisons showed significant differences at the 1% level between the Ache and the 3 populations of the Gran Chaco and between the Cayapa and the Mataco, whereas between the Pilagá and the Mataco, the Cayapa and the Toba, and the Cayapa and the Ache the differ- ences are at the 5% level. This wide range of variation, even among the geographically and linguistically related populations of the Gran Chaco, sug- gests either non-Indian admixture in some of the populations or, considering the small sample sizes, a sampling artifact. However, if the extremely high genetic variation observed previously in South American aboriginals is taken into account, this result does not appear problematic (Kidd et al. 1991; Cavalli-Sforza et al. 1994). АРОВ Polymorphism in South Amerindians /999 Additional comparisons can be made with the results of Kaufman et al. (1999), in which АРОВ polymorphism is reported for 5 Brazilian Indian tribes. The studied groups can be clearly separated into northern (Cayapa, Wai Wai, Surui, Zoró, Gavião, Xavante) and southern (Mataco, Ache, Toba, Pilagá) sets. However, no significant differences in average allele frequencies are observed when these 2 sets are compared ( 5'ßSP*27 : 69% and 73%, respectively), nor is there any clear geographic gradient. As a matter of fact, the extreme values in the allele prevalences occur between groups that are geographically not far apart: the Ache (5'ßSP*27: 57%) and the Mataco (5' ßSP*27: 82-84%). The rare 5' ßSP*29 allele occurs in both the north and the south. The small differences in genotype and allele frequencies observed be- tween the subsample of the Cayapa analyzed here and in the original sample described by Scacchi et al. (1997) and between the 2 Mataco samples are not significant and most likely are due to sampling error. Because the amplifi- cation of this DNA fragment (less than 100 bp) and its characterization on agarose gels is a relatively simple procedure, the possibility of errors related to laboratory techniques or human handling should be negligible. Acknowledgments We thank Ilyas Kamboh, who kindly provided the primers, and Joseph McComb, who provided technical assistance. This research was supported by the Consejo Nacional de Investigaciones Científicas y Técnicas de la Republica Ar- gentina (CONICET) through an external fellowship awarded to D.A. Demarchi as well as by other types of financial help. Another source of assistance was the Secre- taria de Ciencia y Técnica de la Universidad de Buenos Aires. The studies in Brazil are financed by the Programa de Apoio a Núcleos de Excelência (PRONEX), Fin- anciadora de Estudos e Projetos (FINEP), Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq), and Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul (FAPERGS). Logistic assistance of the Fundación Moisés Bertoni was most important in the Ache fieldwork. The Indian leaders and the subjects of the investigation were adequately informed about the aims of the study and gave their approval, which is also gratefully acknowledged. Received 15 April 1998 ; revision received 2 October 1998. Literature Cited Anderson, J.L., C.H. 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Apolipoprotein B signal peptide polymorphism distribution among South Amerindian populations

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Apolipoprotein B signal peptide polymorphism distribution among South Amerindian populations

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