Association of the low-density lipoprotein receptor gene with obesity in Native American populations

Five low-density lipoprotein receptor gene (LDLR) restriction fragment length polymorphisms (RFLPs: TaqI, intron 4; HincII, exon 12; AvaII, exon 13; MspI and NcoI, exon 18) were investigated in 131 individuals from five Brazilian Indian tribes. All markers were polymorphic in this ethnic group. In the whole sample of Amerindians, 13 (41%) of the 32 expected haplotypes were identified, but only three were shared by all tribes. The Xavante, Suruí, Zoró, and Gavi?o tribes, who had been studied for anthropometry, were grouped according to their genotypes, and the corresponding mean values were examined. Significant associations were observed between HincII *H-, AvaII *A+, MspI *M-, and NcoI *N+ and the body mass index (BMI), triceps and subscapular skinfolds, and the arm fat index (AFI). Haplotypes were derived for these four RFLPs, and (*H-/*A+/*M-/*N+) haplotype carriers were compared with noncarriers of this haplotype with equally significant results for the three parameters (BMI, P=0.021; skinfold thickness, P<0.001; AFI, P=0.005). These results suggest that the LDLR gene has some influence over adipose tissue deposition.     

Cytochrome P4501A1 polymorphisms in South American Indians

A total of 131 individuals from five Brazilian Indian tribes were studied for two CYP1A1 gene polymorphisms. The presence of the *val allele at codon 462 varied from 54% in the Surui to 97% in the Xavante, while the presence of the MspI restriction site (*m2 allele) at position T6235C ranged from 72% in the Gavi?o to 95% in the Xavante. The haplotypes derived from these two sites showed a highly heterogeneous distribution among the five populations. The most common haplotype in South Amerindians was *val/*m2 (54% to 94%). This prevalence is the highest that has been observed in any world population.     

Demographic and evolutionary trajectories of the Guarani and Kaingang natives of Brazil

A total of 278 individuals from two Brazilian Indian tribes (Guarani and Kaingang) living in five different localities had their mitochondrial DNA sequenced for the first hypervariable segment (HVS-I), and a fraction of them was also studied for seven biallelic Y-chromosome polymorphisms. Nineteen HVS-I lineages were detected, which showed distinct distributions in the two tribes. The G(ST) value obtained with the mtDNA data is about 5 times higher for the Guarani as compared to the Kaingang, suggesting a higher level of differentiation between the three Guarani partialities than between the two Kaingang villages. Non-Amerindian admixture varied with sex and in the Guarani was only observed through the paternal line. Using these data and those of other Tupian and Jêan tribes, it was possible to make inferences about past migratory movements and the genetic differentiation of these populations.     

Intra and intertribal genetic variation within a linguistic group: The Ge-speaking Indians of Brazil

A total of 562 individuals living in four villages of two Brazilian Indian tribes (Cayapo and Krahó) was studied in relation to blood groups ABO, MNSs, P, Rh, Lewis, Duffy, Kidd and Diego; haptoglobin, Gc, acid phosphatase and phosphoglucomutase types. These results were compared with those obtained previously among the Xavante, and the inhabitants of three other Cayapo villages, all of whom speak Ge languages; the ranges in gene frequencies observed in a representative series of South American Indians from all over the continent were also compiled. The Ge Indians are characterized by low frequencies ofR^z, medium frequencies ofR¹,R², R⁰, orr,Jk^a andPGM¹₁, and high frequencies ofGc² andACP^A when compared with other South American tribes. Genetic distance analyses based on six loci indicate that the intratribal variability observed among Cayapo is of the same order of magnitude as those obtained among the Xavante and Krahó, being much less pronounced than those observed among the Yanomama and Makiritare. The intertribal differences within this linguistic group are much less pronounced than those encountered among tribes that speak more differentiated languages.     

Gc and transferrin isoelectrofocusing subtypes among Brazilian Indians

A total of 397 persons living in six villages of three Brazilian Indian tribes were studied in relation to the Gc subtypes. The corresponding gene frequencies are more similar between the Gorotire and Caingang than between the Gorotire and the Krahó, despite the considerable geographical distance that separates the villages of these two first tribes and their lignuistic differentiation. An uncommon variant pattern (1C7) was observed in eight Gorotire Indians; it had been described for the first time in a Tibetan sample, furnishing additional evidence on the Asiatic origin of these Indians. The distinct Gc subtype frequencies observed in our main ethnic groups provide an important new tool for anthropological analyses. Tf subtypes were studied among the Caingang only. The frequencies of Tf^C1 and Tf^C2 are similar to those obtained by other researchers in Hessen, Germany.     

Beta-globin gene cluster haplotypes in two North American indigenous populations

Haplotypes derived from five polymorphic restriction sites were determined in 50 Carrier-Sekani and 70 Mvskoke chromosomes, and the results were integrated with those previously obtained for 11 South American Indian populations. Eleven haplotypes were identified in the Mvskokes, while five were observed in the Carrier-Sekani. As in South American natives, haplotype 2 (+----) and 6 (-++ -+) were the most prevalent among the Mvskoke (46% and 30%, respectively). In the Carrier-Sekani, haplotype 2 was also the most common, but haplotype 5 (-+ -++) was somewhat more frequent (18%) than 6 (12%). High heterozygosities, as well as genetic differentiation, were observed among these two North American and two other South American groups (Mapuche and Xavante). They could be due to non-Indian admixture in the Mvskoke and Mapuche, but the findings in the other two populations require some other type of explanation.     

Anthropometric studies in Brazilian Cayapo Indians

Results of 16 measurements and 7 indices obtained from 130 men and 156 women belonging to three populations of Brazilian Indians are reported. For both males and females the averages for stature and head breadth are in the middle of the distribution range of values observed in other South American tribes; those for head length and nasal height are relatively low but the averages for sitting height, calf circumference and minimum frontal breadth are high. As for the indices, in both sexes the cephalic and cephalofacial are medium, the Rohrer, jugomandibularis and facial low, and the nasal high when compared with other tribes. Morphological distances between the three Cayapo populations were estimated using Mahalanobis' D² statistic; they are smaller than those separating different tribes and are not the expected ones when the demographic variables of these groups and the geographic distances between them are considered. The amount of variability as expressed by the coefficient of variation and the prevailing pattern of sexual dimorphism are similar to those observed in other Indian populations.     

Genetic relationships between Amerindian populations of Argentina

A total of 495 individuals from five different Argentinian tribes was examined for variation in 23 blood group and protein genetic systems, and the results were integrated with previous data on some of these systems. These tribes generally present RH * R1, PGM1 * 1, and ACP * A frequencies lower and RH * R2, ESD * 1, and GLO * 1 prevalences higher than those observed in other South American Indian groups. Earlier studies with mitochondrial DNA showed that haplogroup A was present in low frequencies in these tribes, but haplogroup B showed a high prevalence among the Mataco. Average heterozygosities are very similar in the five tribes, while estimates of non-Indian ancestry are generally low. Both the blood group and protein, as well as the mtDNA data sets, divide the five tribes into two groups, and the relationships obtained with the blood group and protein systems are exactly those expected on the basis of geography and language. However, the topology obtained with the mtDNA results was different, possibly due to sampling effects or diverse patterns of exchange between the groups related to sex.     

Electrophoretic and isoelectric focusing studies in Brazilian Indians: data on four systems

Three-hundred ninety-nine individuals living in seven populations of two Brazilian Indian tribes (Macushi and I?ana River Indians) were tested for the phosphoglucomutase 1 (PGM1), properdin factor B (BF), haptoglobin (HP), and alpha-1-antitrypsin (PI) systems. We observed significant internal heterogeneity in the two tribes for the PGM1 alleles and in the Macushi for the HP markers. Frequencies in three of the four systems (the exception being BF) also show clear differences in the Macushi and I?ana River Indians. Compared with other ethnic groups, South American Indians generally present high frequencies of PGM1*1B, BF*S, HP*1S, and PI*M3. On the other hand, PGM1*1A, PI*M1, and PI*M2 are reduced, and HP*1F is absent or rare. This is the first report about HP subtypes among American Indians.     

Complement C3 polymorphism in sixteen populations of Colombia. Results of “Expedicion humana”

Blood samples of 1.022 individuals of both sexes, collected during the “Expedicion Humana” programme. Twelve Indian group, two Negroes, two urban and one mestizo populations of Colombia were C3 typed. The results showed the urban samples have C3*F genotype frequencies (17 and 20%) similar to the Spanish population. The Negroe system, with lower C3*F gene frequencies (3.5 and 7%) also resembled their parental populations in Africa. The Mestizo population reported in this study showed a lower value of the C3*F gene (2.2%) than previously studied. suggesting that the degree of admixture may vary in different regions of the country. As regards the Indian populations, there was a wide range of variation of the C3*F gene (0–19%) many tribes being monomorphic. This gene may be a marker of recent admixture in Amerindians, but there may be other genetic factors, such as selection and inbreeding in maintaining high levels of genetic polymorphism in tribes such as Guahibo.     

Spectrum of MTHFR gene SNPs C677T and A1298C: a study among 23 population groups of India

Elevated homocysteine is a risk factor for many complex disorders. The role of methylenetetrahydrofolate reductase (MTHFR) gene in methylation of homocysteine makes it one of the most important candidate genes for these disorders. Considering the heterogeneity in its distribution in world populations, we screened MTHFR C677T and A1298C single nucleotide polymorphisms in a total of 23 Indian caste, tribal and religious population groups from five geographical regions of India and belonging to four major linguistic groups. The frequencies of MTHFR 677T and 1298C alleles were found to be 10.08 and 20.66%, respectively. MTHFR homozygous genotype 677TT was absent in eight population groups and homozygous 1298CC was absent in two population groups. 677T allele was found to be highest among north Indian populations with Indo-European tongue and 1298C was high among Dravidian-speaking tribes of east India and south India. The less common mutant haplotype 677T-1298C was observed among seven population groups and overall the frequency of this haplotype was 0.008, which is similar to that of African populations. cis configuration of 677T and 1298C was 0.94%. However, we could not find any individual with four mutant alleles which supports the earlier observation that presence of more than two mutant alleles may decrease the viability of foetus and possibly be a selective disadvantage in the population.     

Haptoglobin polymorphism among the tribal groups of southern Gujarat

BACKGROUND:

Gujarat is located at the western most point of the Indian subcontinent. Valsad and Surat districts are part of the ‘tribal belt’of Gujarat and constitute 29.1% of total tribal population of Gujarat. These tribal populations are a rich source of gaining insights in the patterns of genetic diversity and genetico-environmental disorders against the back drop of their ecological, historical and ethnographic aspects.

AIM:

The objectives were to find out a) the genetic diversity among the tribes of Gujarat with reference to haptoglobin (Hp) locus b) the relationship between Hp polymorphism and sickle cell anemia/trait.

MATERIALS AND METHODS:

431 individuals belonging to eight tribal groups were studied for Hp polymorphism using polyacrylamide disc gel electrophoresis (PAGE). Hb*S was screened by dithionate tube turbididy (DTT) test and confirmed using cellulose acetate membrane electrophoresis (CAME).

STATISTICAL ANALYSIS:

Allele frequency was calculated by direct gene counting method. Average heterozygosity and gene diversity were computed using software DISPAN. Analysis of molecular variance (AMOVA) was estimated using software ARLEQUIN version 3.1.

RESULTS AND CONCLUSIONS:

Pattern of allele frequency distribution showed preponderance of Hp² allele in all the eight tribal groups, which is in accordance with its frequency in different populations of Indian subcontinent. Total average heterozygosity (H_T) was found to be low (0.160) but the level of genetic differentiation (G_ST) was found to be moderately high (5.6%). AMOVA analysis indicated least among group variance between west and south Indian populations (-0.04%) indicating the affinities of the tribes of Gujarat with that of Dravidian speaking groups. Analysis of Hp phenotypes among sickle cell anemia/ trait individuals revealed a high frequency of Hp 0-0 phenotype (92.7%) among SS individuals as opposed to only 9.7% among AS individuals, reaffirming the selective advantage of HbAS state in relation to hemolytic disorders.     

Congruence of genomic and ethnolinguistic affinities among five tribal populations of Madhya Pradesh (India)

The central Indian state of Madhya Pradesh is home to a large number of tribal populations of diverse linguistic and ethnic backgrounds. With a view to examining how well genomic affinities among tribal populations of this state correspond with their ethnic and linguistic affinities, we analysed DNA samples of individuals drawn from five tribes with diverse, but reasonably well-documented, ethnohistorical and linguistic backgrounds. Each DNA sample was scored at 16 biallelic DNA marker loci. On the basis of these data, genomic affinities among these populations were estimated. We have found an extremely good correspondence between the genomic and ethnolinguistic affinities.     

Diversity of two short tandem repeat loci (CD4 and F13A1) in three Brazilian ethnic groups

Two microsatellites (CD4 and F13A1) were investigated in seven Brazilian populations: one group each of European- and African-derived subjects from Porto Alegre, southern Brazil, and five Amerindian tribes (three Tupi-Mondé speaking [Gavi?o, Surui, and Zoró], one Macro-Gê [Xavante], and one Carib [Wai-Wai]). For both markers, neo-Brazilians presented with a high diversity, but Amerindians showed a low level of variability. Genotype frequency distributions were heterogeneous among populations, the only exception being similar CD4 frequencies in Afro- and Euro-Brazilians. Gene diversity analysis revealed that most of the total variation is due to intrapopulational diversity in all populations. Because of the high information content of these markers in Afro- and Euro-Brazilians, these systems are most appropriate for forensic analyses. The comparison among Brazilian and other world populations revealed high similarity among populations of the same ethnic group, indicating a high discriminative power for these markers.     

Geography influences microsatellite polymorphism diversity in Amerindians

Data related to 15 short tandem repeat polymorphisms (STRPs) are reported for four South American Indian populations, and integrated with previous Brazilian Indian results. Overall heterozygosities varied significantly among groups (Kruskal-Wallis test, P = 0.002). The lowest levels of heterozygosity were observed in the Ache, Ayoreo, and Surui, an expected finding considering their isolation and ethnohistory. Genetic distance and gene diversity analyses suggested that geography was a good predictor of genetic affinity among these Native Americans. New evidence from this study supports the hypothesis that the Ache population descends from a Ge group that preceded the Guarani colonization of Paraguay.     

Molecular systematics of the Brassicaceae: evidence from coding plastidic matK and nuclear Chs sequences

Phylogenetic relationships were inferred using nucleotide sequence variation of the nuclear-encoded chalcone synthase gene (Chs) and the chloroplast gene matK for members of five tribes from the family Brassicaceae to analyze tribal and subtribal structures. Phylogenetic trees from individual data sets are mostly in congruence with the results from a combined matK-Chs analysis with a total of 2721 base pairs, but with greater resolution and higher statistical support for deeper branching patterns. The analysis indicates that tribes Lepidieae, Arabideae, and Sisymbrieae are not monophyletic. Among taxa under study four different lineages each were detected in tribes Arabideae and Lepidieae, interspersed with taxa from tribes Sisymbrieae, Hesperideae, and Brassiceae. It is concluded that tribe Brassiceae might be the only monophyletic group of the traditional tribes. From our data we estimated several divergence times for different lineages among cruciferous plants: 5.8 mya (million years ago) for the Arabidopsis-Cardaminopsis split, 20 mya for the Brassica-Arabidopsis split, and ～40 mya for the age of the deepest split between the most basal crucifer Aethionema and remaining cruciferous taxa.     

The genetic structure of a tribal population, the Yanomama Indians XI. Gene frequencies for 10 blood groups and the ABH-Le secretor traits in the Yanomama and their neighbors; the uniqueness of the tribe.

In this paper we present the results of blood group typings for a total of 33 villages distributed among five South American Indian tribes--Yanomama (21 villages), Makiritare (eight villages), Macushi (two villages), Piaroa (one village), and Wapishana (one village). These new results for the Yanomama and Makiritare tribes have been combined with those previously reported to allow a better appreciation of the distribution of allelic frequencies in the tribes. The relationship of the Yanomama to other South American Indian tribes is investigated using data on six polymorphic loci (Rh, MNS, Fy, Jk, Di, Hp). By use of four genetic measures (two of genetic relationship and two of genetic diversity), we demonstrate that the Yanomama are genetically unique among a sample of 20 South American tribes. In addition, the Yanomama show somewhat less genetic diversity for the six loci analyzed than the average South American tribe. Taken together, these results indicate a rather long period of isolation for the population antecedent to the Yanomama--perhaps since the time of entry of man into the South American continent. The pattern of genetic relationships and genetic diversity for the 20 tribes is consistent with the hypothesis that evolution in South America proceeded by a process of fission-fusion leading to isolation of subpopulations with subsequent genetic differentiation as a consequence of population isolation. The uniqueness of the Yanomama appears to stem entirely from such a process, there being no evidence of any selective differential for the loci analyzed.     

Von Willebrand factor gene polymorphisms in three Brazilian ethnic groups

Von Willebrand factor gene polymorphisms were studied in three Brazilian ethnic groups: Euro-Brazilians, Afro-Brazilians, and Amerindians. Six polymorphic sites were analyzed: RsaI (exon 18), NlaIV (exon 20), HphI, KpnI, D1472H, and V1565L (all four in exon 28). The allele frequencies were significantly different between Euro- and Afro-Brazilians for RsaI, HphI, D1472H, and V1565L, while in Amerindians NlaIV and HphI showed significant differences among tribes. This is the first report of these allele frequencies in Amerindians. Eighteen haplotypes were observed, and they showed significant differences between Euro- and Afro-Brazilians, among Amerindian tribes, and among the three ethnic groups. These results furnish important background data for evolutionary and anthropological investigations; in addition, they will be useful for establishing the origin and molecular characterization of the different forms of von Willebrand disease, as well as for detecting carriers and offering genetic counseling to those with this condition.     

Dramatic founder effects in Amerindian mitochondrial DNAs

Southwestern American Indian (Amerindian) mitochondrial DNAs (mtDNAs) were analyzed with restriction endonucleases and found to contain Asian restriction fragment length polymorphisms (RFLPs) but at frequencies very different from those found in Asia. One rare Asian HincII RFLP was found in 40% of the Amerindians. Several mtDNAs were discovered which have not yet been observed on other continents and different tribes were found to have distinctive mtDNAs. Since the mtDNA is inherited exclusively through the maternal lineage, these results suggest that Amerindian tribes were founded by small numbers of female lineages and that new mutations have been fixed in these lineages since their separation from Asia.     

Brief communication: Allelic and haplotypic structure at the DRD2 locus among five North Indian caste populations

The dopamine D2 receptor (DRD2) gene, with its known human‐specific derived alleles that can facilitate haplotype reconstruction, presents an important locus for anthropological studies. The three sites (TaqIA, TaqIB, and TaqID) of the DRD2 gene are widely studied in various world populations. However, no work has been previously published on DRD2 gene polymorphisms among North Indian populations. Thus, the present study attempts to understand the genetic structure of North Indian upper caste populations using the allele and haplotype frequencies and distribution patterns of the three TaqI sites of the DRD2 gene. Two hundred forty‐six blood samples were collected from five upper caste populations of Himachal Pradesh (Brahmin, Rajput and Jat) and Delhi (Aggarwal and Sindhi), and analysis was performed using standard protocols. All three sites were found to be polymorphic in all five of the studied populations. Uniform allele frequency distribution patterns, low heterozygosity values, the sharing of five common haplotypes, and the absence of two of the eight possible haplotypes observed in this study suggest a genetic proximity among the selected populations. The results also indicate a major genetic contribution from Eurasia to North Indian upper castes, apart from the common genetic unity of Indian populations. The study also demonstrates a greater genetic inflow among North Indian caste populations than is observed among South Indian caste and tribal populations. Am J Phys Anthropol, 2010. © 2010 Wiley‐Liss, Inc.