Apolipoprotein E polymorphism in Southern Iran: E4 allele in the lowest reported amounts

Background: Apolipoprotein E (apoE) with three major alleles E2, E3 and E4 is one of the critical genes in lipid metabolism. Common apoE alleles are in association with an increase in risk for central nervous and cardiovascular diseases such as Alzheimer’s disease, dementia, multiple sclerosis, atherosclerosis, coronary heart disease, hyperlipoproteinemia and stroke. ApoE3 is known as the most frequent allele in all populations, while association of apoE gene polymorphism with reported diseases have mostly been related to other two major alleles especially apoE4. Objective: To determine of apoE alleles frequencies in Southern Iran and comparison of those frequencies with other populations. Methods: DNA was extracted from the whole blood of 198 healthy unrelated candidates from population of Fars Province, Southern Iran, for apoE genotyping who were checked up by a physician. The frequencies of apoE alleles were compared with other populations by χ² test. Results: The frequencies of E2, E3 and E4 were 0.063, 0.886 and 0.051 respectively. These values were similar to those reported from populations of Kuwait, Oman, Lebanon, India, Turkey, Greece, Spain, Sardinia Islands of Italy and two Iranian populations but were different from South of Italy and Caucasians in other Europe regions, American, American-Indian, African, East Asian and Saudi populations (P < 0.05). Conclusion: The frequency of E4 allele as a genetic risk factor for some multifactorial diseases in the population of Southern Iran is in the lowest reported amounts in the world. Iranian population has Caucasoid origin but differs from some Caucasian populations in Europe and America. The results of present study are in agreement with the historical evidences which show admixture of Iranian population with other populations and some studies based on genetic polymorphisms in the population of Southern Iran.     

Population genetics of the metabolically related Adh,Gpdh and Tpi polymorphisms in Drosophila melanogaster I. Geographic variation in Gpdh and Tpi allele frequencies in different continents

Among Australasian populations from above 32.5° latitude there is a significant negative relationship between Gpdh ^F frequency and distance from the equator which is not explained by gametic disequilibrium with the linked inversion In(2L)t. This is consistent with the associations reported earlier for Gpdh ^F among populations covering comparable latitudes in North America and Europe/Asia. By contrast, Tpi allele frequencies are found to be significantly associated with distance from the equator in Australasia but not North America or Europe/Asia. The Tpi pattern in the different zones is essentially the same as that reported earlier for the Acph polymorphism, which maps only 0.2 cM away from the Tpi locus.There are now ten enzyme polymorphisms in D. melanogaster which have been screened for latitudinal associations in Australasia, North America and Europe/Asia. Allele frequencies at six of these loci show significant relationships with distance from the equator which are consistent across all three zones. These latitudinal associations are more prevalent for Group II than Group I enzymes. Values of genic heterozygosity averaged over the ten polymorphic loci and eleven other monomorphic systems do not vary with latitude but differ substantially between zones. Values of Nei's genetic distance between North American and European/Asian populations calculated from all 21 systems are equivalent to subspecific differences elsewhere in the genus.     

Nitrogen deposition enhances Bromus tectorum invasion: biogeographic differences in growth and competitive ability between China and North America

Increased resource supply commonly facilitates invasion by exotic plants, raising concerns over atmospheric nitrogen (N) deposition; fast‐growing annual invaders may have exceptional abilities to outperform native perennials in response to N pulses. However, it remains unclear whether this advantage is due to growth differences or to shifts in competitive outcomes, and whether annual invaders are favored by N deposition in their introduced range over native range. We conducted an experiment to compare the growth and competitive ability of Bromus tectorum and its native perennial grasses either at three different N regimes or between China and North America. The soil used in this experiment was from mountain grasslands as a neutral growth medium. The total biomass of three natives from China and North America did not increase along the N deposition gradient. Nitrogen addition enhanced the growth of North American B. tectorum instead of Chinese B. tectorum. Nitrogen addition increased the competitive ability of B. tectorum, but had no effect on that of natives. North American B. tectorum was bigger and had greater competitive ability and root weight ratio than Chinese B. tectorum. In contrast, North American natives were less competitive than Chinese natives. There was a significantly positive correlation between the growth of B. tectorum grown alone and its competitive ability. These findings suggest that N deposition may enhance the B. tectorum invasion through disproportionally increasing the growth and maintaining inherent competitive advantages of North American B. tectorum, further increasing threats to introduced ranges. There were differences in the growth and competitive ability of B. tectorum and natives between China and North America, which explains why B. tectorum is a minor component at home and becomes a successful invader abroad.     

Quinua and Relatives (Chenopodium sect.Chenopodium subsect.Celluloid)

Traditionally viewed as an Andean grain crop,Chenopodium quinoa Willd. includes domesticated populations that are not Andean, and Andean populations that are not domesticated. Comparative analysis of leaf morphology and allozyme frequencies have demonstrated that Andean populations, both domesticated(quinua) and free-living(ajara), represent an exceptionally homogeneous unit that is well differentiated from allied domesticates of coastal Chile(quingua) and freeliving populations of the Argentine lowlands(C. hircinum). This pattern of relationships indicates that Andean populations represent a monophyletic crop/weed system that has possibly developed through cyclic differentiation (natural vs. human selection) and introgressive hybridization. Relative levels of variation suggest that this complex originated in the southern Andes, possibly from wild types allied withC. hircinum, with subsequent dispersal north to Colombia and south to the Chilean coast. Coastal populations were apparently isolated from post-dispersal differentiation and homogenization that occurred in the Andes. Other data point toward a center of origin in the northern Andes with secondary centers of genetic diversity subsequently developing in the southern Andes and the plains of Argentina. Comparative linkage of South American taxa, all tetraploid, with North American tetraploids of the subsection will eventually clarify this problem. While the possibility of a direct phyletic connection betweenC. quinoa and the Mexican domesticate(C. berlandieri subsp. nuttalliae,) cannot be excluded, available evidence indicates that the latter represents an autonomous lineage that is associated with the basal tetraploid, C. b. subsp.berlandieri, through var.sinuatum, whereas South American taxa show possible affinities to either var. zschackei or var.berlandieri. An extinct domesticate of eastern North America,C. b. subsp.jonesianum, represents either another instance of independent domestication, possibly from subsp. b. var.zschackei, or a northeastern outlier of subsp.nuttalliae.     

Evidence for multiple introductions of Centaurea stoebe micranthos (spotted knapweed,Asteraceae) to North America

Invasive species’ success may depend strongly on the genetic resources they maintain through the invasion process. We ask how many introductions have occurred in the North American weed Centaurea stoebe micranthos (Asteraceae), and explore whether genetic diversity and population structure have changed as a result of introduction. We surveyed individuals from 15 European native range sites and 11 North American introduced range sites at six polymorphic microsatellite loci. No significant difference existed in the total number of alleles or in the number of private alleles found in each range. Shannon–Weaver diversity of phenotype frequencies was also not significantly different between the ranges, while expected heterozygosity was significantly higher in the invasive range. Population structure was similar between the native range and the invasive range, and isolation by distance was not significant in either range. Traditional assignment methods did not allocate any North American individuals to the sampled European populations, while Bayesian assignment methods grouped individuals into nine genetic clusters, with three of them shared between North America and Europe. Invasive individuals tended to have genetically admixed profiles, while natives tended to assign more strongly to a single cluster. Many North American individuals share assignment with Romania and Bulgaria, suggesting two separate invasions that have undergone gene flow in North America. Samples from three other invasive range sites were genetically distinct, possibly representing three other unique introductions. Multiple introductions and the maintenance of high genetic diversity through the introduction process may be partially responsible for the invasive success of C. stoebe micranthos.     

Ethnic differences in cytokine gene polymorphisms: potential implications for cancer development

Differences in incidence and outcome of cancer among ethnic groups may be explained by biological and/or socio-economic factors. Genetic variations that affect chronic inflammation, a potentially important risk factor for carcinogenesis, may differ across ethnic groups. Such differences may help explain cancer disparities among these groups. Single nucleotide polymorphisms (SNPs) within cytokine genes can affect cytokine levels and the degree of inflammation. Associations between cancer and some cytokine SNPs have been suggested. However, these have not been consistently replicated among populations, suggesting that SNP function may differ according to ethnicity, or that SNPs alone do not completely account for regulation of inflammation. We examined seven polymorphisms in African-American (n = 294) and Caucasian (n = 299) newborns in Louisiana: IL1B-511C > T, IL1B-31T > C, IL1B + 3954C > T, IL1RN*2, IL10-1082G > A, IL10-592C > A, and TNF-308G > A. African-American newborns had significantly higher frequencies of IL1B-511T, IL1B-31C, IL10-1082A and IL10-592A alleles and complete linkage equilibrium between IL1B + 3954 and IL1B-31. In contrast, IL1B + 3954T, IL1RN*2, and TNF-308A were more frequent in Caucasian newborns and exhibited strong linkage disequilibrium between IL1B + 3954 and IL1B-31. All allelic frequencies were significantly different between groups. We hypothesize that these dissimilarities may contribute to differences in the inflammatory response and cancer incidence and mortality between African-Americans and Caucasians in Louisiana.     

Inference of chromosomal inversion dynamics from Pool‐Seq data in natural and laboratory populations of Drosophila melanogaster

Sequencing of pools of individuals (Pool‐Seq) represents a reliable and cost‐effective approach for estimating genome‐wide SNP and transposable element insertion frequencies. However, Pool‐Seq does not provide direct information on haplotypes so that, for example, obtaining inversion frequencies has not been possible until now. Here, we have developed a new set of diagnostic marker SNPs for seven cosmopolitan inversions in Drosophila melanogaster that can be used to infer inversion frequencies from Pool‐Seq data. We applied our novel marker set to Pool‐Seq data from an experimental evolution study and from North American and Australian latitudinal clines. In the experimental evolution data, we find evidence that positive selection has driven the frequencies of In(3R)C and In(3R)Mo to increase over time. In the clinal data, we confirm the existence of frequency clines for In(2L)t, In(3L)P and In(3R)Payne in both North America and Australia and detect a previously unknown latitudinal cline for In(3R)Mo in North America. The inversion markers developed here provide a versatile and robust tool for characterizing inversion frequencies and their dynamics in Pool‐Seq data from diverse D. melanogaster populations.     

Spatial and temporal variation of genetic diversity and estimation of effective population sizes in Atlantic salmon (Salmo salar, L.) populations from Asturias (Northern Spain) using microsatellites

Rivers in Asturias (northern Spain) constitute the southern limit of the distribution of Atlantic salmon (Salmo salar L.) in Europe, a biological resource facing one of the more serious challenges for conservation today. In this work, eight microsatellite loci have been used to analyse samples collected in 1993 and 1999 from four Asturian rivers (Esva, Narcea, Sella, and Cares), obtaining information about the temporal and the spatial genetic variation in these populations and, in addition, estimations of their effective population sizes. The temporal analysis revealed a general decrease in all the estimated genetic variability parameters when samples from 1993 (mean A ₍₁₉₉₃₎ = 6.47, mean H _O(1993) = 0.472, mean H _E(1993) = 0.530) were compared with those obtained in 1999 (mean A ₍₁₉₉₉₎ = 6.16, mean H _O(1999) = 0.460, mean H _E(1999) = 0.490). This reduction was particularly notable for the case of the Esva river. Our results pointed to a pattern of spatial genetic differentiation inside the Asturian region (F _{ST (1993)} = 0.016 P < 0.01; F _{ST (1999)} = 0.023 P < 0.01). Using the standard Temporal Method we found estimates of N _e^{^} _(Esva) = 75.1 (33.2–267.2); N _e^{^} _(Cares) = 96.6 (40.0–507.5), N _e^{^} _(Sella) = 106.5 (39.1–9396.4) and N _e^{^} _(Narcea) = 113.9 (42.0–3693.3). The use of likelihood-based methods for the N _e^{^} estimations improved the results (smaller CIs) for the Esva and Cares rivers (N _e^{^} _(Esva) = 63.9 (32.3–165.3); N _e^{^} _(Cares) = 76.4 (38.8–202.0) using a Maximum likelihood approach) and suggested the presence of larger populations for the Sella and Narcea rivers (N _e^{^}≈200). These results showed that the Asturian Atlantic salmon populations (in particular Esva and Cares river populations) could be close to the conservation genetic borderline for avoiding inbreeding depression although we discuss some implications of the analysis of temporal genetic change in populations with overlapping generations.     

Frequency distribution of XbaIG > T and HaeIIIT > C <Emphasis Type="Italic">GLUT1</Emphasis> polymorphisms among different Brazilian ethnic groups

GLUT is the major glucose transporter in mammalian cells. Single nucleotide polymorphisms (SNP) at GLUT1 promoter and regulatory regions have been associated to the risk of developing nephropathy in different type 1 and type 2 diabetic populations. It has been demonstrated that differences in allelic and genotypic frequencies of GLUT1 gene (SLC2A1) polymorphisms occur among different populations. Therefore, ethnic differences in distribution of GLUT1 gene polymorphisms may be an important factor in determining gene-disease association. In this study, we investigated the XbaIG > T and HaeIIIT > C polymorphisms in six different Brazilian populations: 102 individuals from Salvador population (Northern Brazil), 56 European descendants from Joinville (South Brazil), 85 Indians from Tiryió tribe (North Brazil) and 127 samples from Southern Brazil: 44 from European descendants, 42 from African descendants and 41 from Japanese descendants. Genotype frequencies from both sites did not differ significantly from those expected under the Hardy–Weinberg equilibrium. We verified that the allele frequencies of both polymorphisms were heterogeneous in these six Brazilian ethnic groups.     

Distribution of hereditary blood groups among Indians in South America. 3. In Bolivia

Blood samples were procured from the following populations of putatively pure Indians in Bolivia: 503 Aymará from the Altiplano and Yungas, 30 Chama, 11 Tacana, 14 Chácobo, 109 Itonama, 67 Moré, and 27 Sirionó from the Beni and lowland rainforest. Erythrocytes from these 761 specimens were tested for antigens in the A-B-O, M-N-S-s, P, Rh-Hr, Lutheran, Kell-Cellano, Lewis, Duffy, Kidd, and Diego systems, and for the Wright agglutinogen. The serum samples were tested for haptoglobins and transferrins; and hemolysates were prepared and examined for hemoglobin types. Results of these tests are presented as phenotypes and calculated gene frequencies on appropriate tables. A map is included to show the locations of the populations from which blood samples were obtained. Frequencies are generally high for the O gene, it being the only gene of the ABO system which appears in the Chama, Chácobo and Sirionó. The presence of A₁, A₂ or B genes in the Bolivian Indians is interpreted as being most probably of caucasoid introduction. Excepting the Sirionó the frequencies are high for M and low for N genes as is usual for Amerinds, the M gene being the only one detected in the Chama. The s gene frequency in high and the S low except in the small isolated Chácobo population in which S gene frequency is extremely high for Amerinds. Inbreeding and perhaps genetic drift in this small isolate may account for this aberrancy from normal. The Bolivian specimens presented the high frequencies for genes R¹ (CDe) and R² (cDE) and the low frequencies for genes r (cde) and R⁰ (cDe) usually observed in American Indians. The Lu^a factor was observed in only one of 120 Aymará at Santa Fe in the Yungas. The Lu^a factor, when observed in Amerinds, suggests foreign introduction of the responsible gene. Fy^a gene frequencies are consistently high and excepting the Aymará and Chama so also are Jk^a frequencies. Frequencies for the Diego (Di^a) factor vary from 3.70% in 27 Sirionó to 73.33% in 30 Chama. No K, Mi^a, Vw or Wr^a antigens were demonstrable in the Indian blood samples from Bolivia. Phenotypes and calculated gene frequencies for haptoglobins and transferrins are presented. All Bolivian Indian bloods tested electrophoretically contained only hemoglobin (A) as a major component.     

SPECIATION IN NORTH AMERICAN CHICKADEES: I. PATTERNS OF mtDNA GENETIC DIVERGENCE

We surveyed mitochondrial DNA haplotype divergence within and between populations of six species of North American chickadees (Parus, Subgenus Poecile) with the following results. (1) Genotype diversities (range 0.3 to 0.7) and low nucleotide diversities (range 3 to 27 × 10^?4) within populations were typical of known vertebrates. (2) The two widespread, northern species (atricapillus and hudsonicus) exhibit little mtDNA genetic differentiation throughout their previously glaciated continental distributions, most likely because of recent, postglacial range expansions. (3) Newfoundland populations of atricapillus and maritime province (Newfoundland plus Nova Scotia) populations of hudsonicus have distinct mtDNA haplotypes which differ from continental haplotypes by single restriction site changes. (4) Haplotypes of the southeastern U.S. species P. carolinensis divide into eastern and western sets which have diverged by three percent. This heretofore unrecognized, divided population structure may correspond to the Tombigbee River/ Mobile Bay disjunction known in some other vertebrate taxa. (5) Allopatric populations of the southwestern species sclateri and gambeli exhibit divergences of one and three percent respectively. (6) Prevailing interspecific divergence distances of three to seven percent suggest speciation early in the Pleistocene rather than during late (e.g., Wisconsin) glaciations. (7) Phylogenetic analyses suggest that North American taxa include two clades, hudsonicus-rufescens-sclateri versus carolinensis-atricapillus-gambeli and that carolinensis and atricapillus are not sister species.     

HISTORICAL FACTORS AND ANISOPLETHIC POPULATION STRUCTURE IN TRISTYLOUS PONTEDERIA CORDATA: A REASSESSMENT

Theoretical models of floral-morph frequencies in tristylous species predict a single equilibrium with all three morphs represented in equal proportions (isoplethy). North American populations of Pontederia cordata exhibit considerable heterogeneity of morph frequencies between populations, with the short-styled morph often in excess of isoplethic expectations and the long-styled morph commonly underrepresented. In a previous study, it was proposed that anisoplethic population structure in P. cordata is the result of differential male fertility, owing to genetic differences in pollen production among the morphs. In this study, the influence of historical factors on morph frequencies prior to equilibrium was investigated using a deterministic computer model. Nonequilibrium frequencies are strongly influenced by the genotypes of founding individuals, and, because tristyly is under the control of two diallelic loci, phenotypic equilibrium is approached asymptotically. The model indicates that in nonequilibrium populations the short-styled morph will be in excess and the long-styled morph will be underrepresented. This suggests that historical factors play an important role in determining population structure in P. cordata. Several features of the population ecology of the species lend support to this interpretation. Historical factors should be taken into account when interpreting data from population surveys of morph frequencies in tristylous species and of other genetic polymorphisms not under single-locus control.     

A private allele ubiquitous in the Americas

The three-wave migration hypothesis of Greenberg et al. has permeated the genetic literature on the peopling of the Americas. Greenberg et al. proposed that Na-Dene, Aleut-Eskimo and Amerind are language phyla which represent separate migrations from Asia to the Americas. We show that a unique allele at autosomal microsatellite locus D9S1120 is present in all sampled North and South American populations, including the Na-Dene and Aleut-Eskimo, and in related Western Beringian groups, at an average frequency of 31.7%. This allele was not observed in any sampled putative Asian source populations or in other worldwide populations. Neither selection nor admixture explains the distribution of this regionally specific marker. The simplest explanation for the ubiquity of this allele across the Americas is that the same founding population contributed a large fraction of ancestry to all modern Native American populations.     

Comparative Genetic Structure between Tropical Colombian and North American Drosophila pseudoobscura Populations1

Since the discovery of Drosophila pseudoobscura in the tropical highlands of the Colombian Andes during the 1960s, this population has been studied by many evolutionary biologists because of its geographical isolation from the main North American range of this species. We used five highly variable microsatellite loci (DPSX001, DPS2001, DPS3001, DPS3002, and DPS4001) to analyze the genetic structure of three Colombian populations and the genetic relationships with four North American populations. We found that the average heterozygosity was consistent among the three tropical Colombian populations (H = 0.665–0.675), but they had less variability than their North American counterparts. Nonetheless, the genie diversity found in the Colombian populations was higher than that found previously using other genetic markers. The average genie heterogeneity estimate among the Colombian populations (Rjr = 0.042), although statistically significant, was substantially lower than that found among the North American populations (RsT ⁼ 0.088). We identified alleles in the Colombian populations not reported in North American populations, suggesting further divergence between the populations. We estimated that the populations on the two continents diverged ca 80,000 years ago, consistent with independent sequence analyses of these populations but contrary to some suggestions in the literature. Finally, we estimated an average effective population size of the Colombian populations to be on the order of 100,000.     

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.     

Patterns of transposable element variation and clinality in Drosophila

Natural populations often exist in spatially diverse environments and may experience variation in the strength and targets of natural selection across their ranges. Drosophila provides an excellent opportunity to study the effects of spatially varying selection in natural populations, as both Drosophila melanogaster and Drosophila simulans live across a wide range of environments in North America. Here, we characterize patterns of variation in transposable elements (TEs) from six populations of D. melanogaster and nine populations of D. simulans sampled from multiple latitudes across North America. We find a nearly twofold excess of TEs in D. melanogaster relative to D. simulans, with this difference largely driven by TEs segregating at the lowest and highest allele frequencies. We find no effect of latitude on either total TE abundance or average TE allele frequencies in either species. Moreover, we show that, as a class of mutations, the most common patterns of TE variation do not coincide with the sampled latitudinal gradient, nor are they consistent with local adaptation acting on environmental differences found in the most extreme latitudes. We also do not find a cline in ancestry for North American D. melanogaster—for either TEs or single nucleotide polymorphisms—suggesting a limited role for demography in shaping patterns of TE variation. Though we find little evidence for widespread clinality among TEs in Drosophila, this does not necessarily imply a limited role for TEs in adaptation. We discuss the need for improved models of adaptation to large‐scale environmental heterogeneity, and how these might be applied to TEs.     

Lack of association of MTHFR gene polymorphisms with the risk of osteonecrosis of the femoral head in a Korean population

Some studies have suggested that coagulation disorders may be implicated in osteonecrosis of the femoral head (ONFH). The C677T polymorphism of the 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene has been postulated to be a genetic risk factor for venous thromboembolism and osteonecrosis in Caucasians, but this relationship has not been established in other populations. In this study, we conducted case-control analysis of whether MTHFR polymorphisms are associated with ONFH in Korean patients. Fifteen single nucleotide polymorphisms (SNPs) were selected and genotyped in 443 ONFH patients and 273 control subjects using the TaqMan 5′ allelic discrimination assay. Comparison of ONFH and control subjects using logistic regression models revealed no statistically significant differences in the frequencies of the MTHFR polymorphisms and haplotypes. Further analysis stratified by etiology also showed no association. These results suggest that MTHFR polymorphisms play no significant role in susceptibility to ONFH in the Korean population.     

<Emphasis Type="Italic">KIR</Emphasis> gene content diversity in four Iranian populations

Killer cell immunoglobulin-like receptors (KIR) regulate natural killer cell response against infection and malignancy. KIR genes are variable in the number and type, thereby discriminating individuals and populations. Herein, we analyzed the KIR gene content diversity in four native populations of Iran. The KIR genomic diversity was comparable between Bakhtiari and Persian and displayed a balance of A and B KIR haplotypes, a trend reported in Caucasian and African populations. The KIR gene content profiles of Arab and Azeri were comparable and displayed a preponderance of B haplotypes, a scenario reported in the natives of America, India, and Australia. A majority of the B haplotype carriers of Azeri and Arab had a centromeric gene-cluster (KIR2DS2-2DL2-2DS3-2DL5). Remarkably, this cluster was totally absent from the American natives but occurred at highest frequencies in the natives of India and Australia in combination with another gene cluster at the telomeric region (KIR3DS1-2DL5-2DS5-2DS1). Therefore, despite having similar frequencies of B haplotypes, the occurrence of B haplotype-specific KIR genes, such as 2DL2, 2DL5, 3DS1, 2DS1, 2DS2, 2DS3, and 2DS5 in Azeri and Arab were substantially different from the natives of America, India, and Australia. In conclusion, each Iranian population exhibits distinct KIR gene content diversity, and the Indo-European KIR genetic signatures of the Iranians concur with geographic proximity, linguistic affinity, and human migrations. Electronic supplementary material  The online version of this article (doi:) contains supplementary material, which is available to authorized users.     

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.     

First survey of the three gene polymorphisms (PON1 Q192R, eNOS E298D and eNOS C-786T) potentially associated with coronary artery spasm in African populations and comparison with worldwide data

Three polymorphisms, Paraoxonase 1 (PON1) Q192R (C/G), endothelial nitric oxide synthase (eNOS) E298D (G/T) and eNOS T‐786C have been suggested to be potentially associated with coronary artery spasm in Japanese patients. Data on worldwide populations are needed to clarify whether these associations could hold true for other populations. However, few data are available especially in Africans, spasm of which has been suggested to be an aetiology of myocardial infarction. Therefore, these polymorphisms were investigated in three Africans, Ovambos (n = 123), Ghanians (n = 118) and Xhosas (n = 96), together with Japanese (n = 96), by using polymerase chain reaction‐restriction fragment length polymorphism analysis. Genotype‐distributions of all these SNPs in African populations were significantly different from those in Caucasians, whereas were similar to those in Japanese population. African populations exhibit relatively higher frequency of spasm‐associated G192 allele in PON1 Q192R being similar to Japanese population, however frequencies of spasm‐associated T298 allele and –C786 allele in SNP eNOS E298D and T‐786C, respectively, were conversely lower in Africans than Caucasians. Although healthy subjects have been recruited in this study, these findings may provide genetic background for elucidation of aetiology of spasm. Copyright © 2011 John Wiley & Sons, Ltd.