Sexually dimorphic pelvic morphology in South African whites and blacks

It is well known that there is metric and morphologic variation in the expression of sexual dimorphism between racial phenotypes and populations. Therefore, the purpose of this research is to assess morphologic sex differences in the pelves of South African whites and blacks. Results will be used to improve the identification of human skeletal remains by producing group specific standards. Morphologic features of both left and right os coxae were studied in a sample of 400 known sex/race individuals from the Pretoria and Dart collections. Bones that were clearly pathologic or visibly deformed were excluded from the study. Data were subjected to SPSS analysis.

Results indicated that overall, pubic bone shape was the easiest to assess and was the most consistently reliable morphological indicator of sex in both sexes and population groups. At 88% average accuracy, the most discriminating traits in whites were pubic bone shape and subpubic concavity form. In blacks, greater sciatic notch form allowed the highest separation, averaging 87.5%, followed by pubic shape at 84.5%. Important findings included the fact that there were significant differences in the accuracy of sex determination from pelvic morphology between both males and females and whites and blacks.

In conclusion, this study provides quantification of individual morphological traits in the os coxae of white and black South Africans that will be of value in forensic and archaeological analyses, especially when dealing with fragmentary remains. It also demonstrates that population differences affect the expression of sexual dimorphism and must be accounted for to develop the most effective methods of analysis.     

Polymorphism of HF (beta 1H-globulin) in three Asian populations (Bangladeshis,Tibetans and Indonesians)

The polymorphism of HF (beta 1H-globulin) was investigated in three Asian populations (Bangladeshis, Tibetans and Indonesians) by means of isoelectric focusing and immunoblotting. Phenotypes associated with three common alleles (HF*A, HF*B and HF*Q0) and a rare allele HF*A1 were identified. The observed numbers of phenotypes were in accordance with the numbers expected under the Hardy-Weinberg equilibrium. HF*A1 seems to be a unique allele of the East-Asian Mongoloids including Tibetans and Indonesians.     

Population genetics of alpha-1-antitrypsin polymorphism in US whites, US blacks and African blacks.

An isoelectric focusing (IEF) procedure in an ultra-narrow pH range, 4.2-4.9, has been utilized to detect alpha 1-antitrypsin or alpha 1-protease inhibitor (PI) allele products in 2 US white and 3 US black populations as well as 1 native African black population. In addition to the 3 common alleles PI*M1, PI*M2 and PI*M3, products of the 4th allele PI*M4 have been identified in US whites at low-level frequency. The presence of the PI*S, PI*Z and PI*I alleles has also been verified in our population samples. While the PI*S allele is present at a polymorphic level in US whites, it is only present sporadically in US blacks and is completely absent in African blacks. The PI*Z allele was not detected in the black populations tested. The PI allele frequency data have been used to calculate white admixture in US blacks.     

Calcaneal measurement in estimation of stature of South African blacks

Stature (height) is an important factor in establishing the identity of a person in the living as well as in the skeletonized state. When stature is estimated from the bones of the limbs, regression equations, which estimate the ratios of the lengths of bones to the height of the individual, are generated. The majority of bones that were used previously were the long bones. The calcaneus was used for estimating stature only in American whites and blacks (Holland [1995] Am. J. Phys. Anthropol. 96:315-320). The regression equations that he generated were found to be useful for stature estimation in these population groups. Since the calcaneus has not been used for the same purpose in South Africa, the aim of this study was to derive regression equations that will allow this bone to be used for stature estimation in South African blacks. In total, 116 complete skeletons (60 males and 56 females) were selected from the Raymond A. Dart Collection of Human Skeletons, School of Anatomical Sciences, University of the Witwatersrand (Johannesburg, South Africa). The skeletal heights of these sets of skeletons were calculated using the anatomical method of Fully ([1956] Ann. Med. Leg. 35:266-273). Nine parameters of the calcaneus were measured and matched against skeletal heights, using univariate and multivariate regression methods. Regression equations were obtained for estimation of the stature of the South African black population from the calcaneus. The standard error of estimate that was obtained with univariate regression analysis was higher than the corresponding values using multivariate regression analysis. In both cases, the standard errors of estimate compared well with the values obtained for fragmentary long bones by previous authors.     

Patella measurements of South African whites as sex assessors.

This study uses metrical characteristics of the patella to derive population specific equations for sex determination in South Africa. Six measurements were taken from 120 normal and undamaged left patellae in a sample of known race, equally distributed by sex, obtained from the Raymond A Dart collection of human skeletons. These data were subjected to discriminant analysis. Maximum height and maximum breadth were selected in the stepwise analysis with an average accuracy of 83% in correct sex classification. Four functions were derived from the direct analysis with a range of average accuracy between 77% and 85%. While most individual variables showed high misclassification rates and may not be useful on their own, maximum height and maximum breadth have an average accuracy of 85 and 79%, respectively.     

Nonrandom association of genetic markers in a sample of South African blacks

According to classical genetic theory, allelic genes at one locus are expected to segregate and be manifested independently of allelic genes at another locus. At the population level any significant deviation from this general hypothesis resulting from specific biologic and genetic effects can be recognized in the form of nonrandom associations between genetic markers. The present data, consisting of 24 genetic polymorphisms determined from a sample of 998 unselected and unrelated South African blacks, offers an opportunity to test whether or not any such nonrandom associations exist between the genetic markers. After appropriate statistical calculations on the population data, we found that 13 pairs of genetic polymorphisms demonstrate a nonrandom association (statistically significant). Because the results cannot be explained in terms of known biologic mechanisms, we conclude that the associations observed could be due to random statistical effects (repeated application of the chi-square test) and/or to real (as yet unknown) biologic phenomena in the population studied. This tentative conclusion can serve as a guideline for more specific investigations.     

Unions between blacks and whites: England and the US compared

In this article, US and UK census data are used to compare the propensity for matches between blacks and native born whites in England and the US. Blacks are disaggregated into three ethnic groups: Black Caribbeans, Residual Blacks and, in the US, African Americans. The first group receives the most theoretical attention. Both raw percentages and parameters that control for several covariates - such as age, education and city of residence - are examined. The results indicate that, with or without controls and irrespective of ethnicity, blacks in Britain are significantly more likely to have a native born white partner than their US counterparts. These findings accord with assimilation theory, but the article's conclusion suggests that, in both countries, the assimilation of people of African descent operates differently from the assimilation of whites.     

Differences of Ca2+ regulation in skin fibroblasts from blacks and whites

Black people have a higher propensity than caucasians toward essential hypertension. To explore the possibility that this racial difference relates to cellular Ca2+ metabolism, we measured 45Ca2+ washout and uptake and cytosolic free concentration of Ca2+ [Ca2+]i in serially passed skin fibroblasts from normotensive black and white males. Depending on the experimental conditions, 45Ca2+ washout in these cells was described by either two or three exponential functions, whereas 45Ca2+ uptake was described only by a two-exponent function. There were no racial differences in 45Ca2+ uptake and washout of unstimulated fibroblasts. However, stimulation by human serum resulted in an increase in the 45Ca2+ washout that was higher in fibroblasts from blacks than from whites. The racial differences were expressed primarily by higher values of the apparent washout rate constant (k1) of 45Ca2+ from the largest and most rapidly exchangeable cellular pool. The effect of human serum was not related to its origin (blacks vs. whites). In 2 mM Ca2+ medium and 10% serum from blacks, the respective k1 (mean +/- SEM; x 10(-2)/min) values for fibroblasts from blacks and whites were 89.68 +/- 5.23 and 73.29 +/- 4.0; in the presence of 10% serum from whites, the k1 values for cells from blacks and whites were 84.14 +/- 2.80 and 76.36 +/- 3.23 (overall significance of P less than .01). In Ca2+-deficient medium in the presence of 10% human serum, the k1 for fibroblasts from blacks and whites were 115.57 +/- 3.76 and 102.15 +/- 3.30 (P less than .05). Serum substantially increased the 45Ca2+ uptake in fibroblasts from both blacks and whites; however, racial differences were not observed. Basal levels of [Ca2+]i were not different in fibroblasts of blacks vs. whites (46.8 +/- 6.8 and 43.2 +/- 7.1 nM for blacks and whites, respectively). However, the peak response of Cai2+ transients for cell stimulated by 5% human serum was significantly higher in blacks than whites (blacks = 963 +/- 213, whites = 481 +/- 162 nM; P = .0286). We conclude that Ca2+ regulation is different in serum-stimulated fibroblasts from blacks and whites and that, at least in part, this difference may relate to a greater agonist-induced mobilization of Ca2+ in fibroblasts from blacks.     

Polymorphism of the A subunit of coagulation factor XIII: evidence for subtypes of the FXIIIA*1 and FXIIIA*2 alleles.

Agarose gel isoelectric focusing (pH 5--6.5) in the study of plasma factor XIII (FXIII) polymorphism revealed heterogeneity characterized by a narrow or broad type of the electrophoretic band of the A subunit (FXIIIA). Isoelectric focusing in polyacrylamide gels supplemented with 2 M urea could clearly discriminate three different patterns in each of the two homomeric dimers, FXIIIA 1 and FXIIIA 2. These patterns can be explained by the existence of two codominant subtypes in each of the two common alleles, FXIIIA*1 and FXIIIA*2. These subtypes are termed FXIIIA*1A, 1B, 2A, and 2B, respectively. In random population samples of Japanese, all the possible phenotypes deduced from the four codominant alleles were observed except for the FXIIIA 2A homozygote with the least frequency. This hypothesis is compatible with the segregation study on 35 family samples. The frequencies of the four alleles were calculated in 433 unrelated Japanese as being .2748 for FXIIIA*1A, .6201 for FXIIIA*1B, .0069 for FXIIIA*2A, and .0982 for FXIIIA*2B. The data obtained in this study will contribute much more to disputed paternity cases and to anthropological surveys than will the former FXIIIA system with two common alleles.     

HLA-DRB1*1101: a significant risk factor for sarcoidosis in blacks and whites

Sarcoidosis is a granulomatous disorder of unknown etiology, associated with an accumulation of CD4+ T cells and a TH1 immune response. Since previous studies of HLA associations with sarcoidosis were limited by serologic or low-resolution molecular identification, we performed high-resolution typing for the HLA-DPB1, HLA-DQB1, HLA-DRB1, and HLA-DRB3 loci and the presence of the DRB4 or DRB5 locus, to define HLA class II associations with sarcoidosis. A Case Control Etiologic Study of Sarcoidosis (ACCESS) enrolled biopsy-confirmed cases (736 total) from 10 centers in the United States. Seven hundred six (706) controls were case matched for age, race, sex, and geographic area. We studied the first 474 ACCESS patients and case-matched controls. The HLA-DRB1 alleles were differentially distributed between cases and controls (P<.0001). The HLA-DRB1*1101 allele was associated (P<.01) with sarcoidosis in blacks and whites and had a population attributable risk of 16% in blacks and 9% in whites. HLA-DRB1-F(47) was the amino acid residue most associated with sarcoidosis and independently associated with sarcoidosis in whites. The HLA-DPB1 locus also contributed to susceptibility for sarcoidosis and, in contrast to chronic beryllium disease, a non-E(69)-containing allele, HLA-DPB1*0101, conveyed most of the risk. Although significant differences were observed in the distribution of HLA class II alleles between blacks and whites, only HLA-DRB1*1501 was differentially associated with sarcoidosis (P<.003). In addition to being susceptibility markers, HLA class II alleles may be markers for different phenotypes of sarcoidosis (DRB1*0401 for eye in blacks and whites, DRB3 for bone marrow in blacks, and DPB1*0101 for hypercalcemia in whites). These studies confirm a genetic predisposition for sarcoidosis and present evidence for the allelic variation at the HLA-DRB1 locus as a major contributor.     

Islet cell antibodies and other autoantibodies in South African blacks and indians with insulin dependent diabetes mellitus (IDDM)

The presence or absence of islet cell antibodies and other autoantibodies was determined in 47 African and 34 Indian patients with IDDM and 37 controls. Islet cell antibodies (ICA-IgG) were found in over a third of the patients and in only 2 controls. Complement fixing antibodies (ICA-Cf) were found in 10% of patients, but in none of the controls. Persistence of ICA beyond 3 years was more frequent in Black compared to Indian patients. Parietal cell antibodies were found more often in patients (20%) than controls (5%) as were thyroid microsomal antibodies (11% vs. 0%). None of the patients or controls had adrenal antibodies.     

Apolipoprotein J polymorphisms and serum HDL cholesterol levels in African blacks

Apolipoprotein J (apoJ, protein; APOJ, gene) is found in serum associated with high-density lipoprotein (HDL) subfractions, which also contain apolipoprotein A-I (apoA1) and cholesteryl ester transfer protein. ApoJ has been shown to be involved in a variety of physiological functions, including lipid transport. In earlier studies we reported the existence of a common genetic polymorphism (APOJ*1 and APOJ*2 alleles) using isoelectric focusing (IEF) and immunoblotting. In this study we determined the molecular basis of this polymorphism and together with another polymorphism at codon 328 (G-->A) evaluated its relationship with serum HDL cholesterol and apoA1 levels in 767 African blacks stratified by staff level: junior (less affluent, n = 450) and senior (more affluent, n = 317). The molecular analysis of the cathodally shifted APOJ*2 allele on IEF gels revealed an amino acid substitution of asparagine by histidine resulting from a missense mutation (A-->C) at codon 317 in exon 7. The frequency of the APOJ*2 (C) allele of codon 317 in the total sample was 0.267, whereas that of the less common allele A of codon 328 was 0.04. Despite their close proximity, no linkage disequilibrium was observed between the 2 polymorphisms. The impact of the codon 317 polymorphic variation was significant on serum HDL cholesterol (p = 0.003) and HDL3 cholesterol (p = 0.001) in junior staff. The adjusted mean values of these traits were higher in the codon 317 APOJ*2/*2 genotype than in the *1/*1 and *1/*2 genotypes. Overall, the APOJ codon 317 polymorphism explained 10.2% and 8.3% of the phenotypic variation in HDL cholesterol and HDL3 cholesterol, respectively, in junior staff. The codon 328 polymorphism showed a significant effect on HDL2 cholesterol (p = 0.039) and apoA1 (p = 0.007) only in junior women and accounted for 2.5% and 4.2% of the phenotypic variation in HDL2 cholesterol and apoA1, respectively. We also analyzed the combined effects of these genotypes at the 2 polymorphic sites. Significant effects on HDL cholesterol (p = 0.004) and HDL3 cholesterol (p = 0.008) in junior men and on HDL2 cholesterol (p = 0.003) in junior women were observed in the combined genotype data. The 2-locus genotypes explained 6.0% and 5.3% of the residual phenotypic variation of HDL cholesterol and HDL3 cholesterol in junior men and 10.4% of HDL2 cholesterol in junior women. These data indicate that the effect of the APOJ polymorphism on HDL cholesterol levels is modulated by socioeconomic status, as measured by staff level. Given the association of HDL and its subfractions with cardiovascular disease, these polymorphisms may lead to a better understanding of interracial differences in the risk of cardiovascular disease.     

The use of nonmetric variation in estimating human population admixture: a test case with Brazilian blacks, whites, and mulattos

Measurements in populations which serve as valid indicators of biological relationship should be proportional to genetic distance. In order to test the utility of discrete cranial traits for estimating genetic distances among populations, estimates of admixture are obtained for gene frequency data and nonmetric cranial data in São Paulo mulattos (M). The gene frequency data serve as a control that the three populations are related as stated: estimates of admixture are obtained by using São Paulo whites (W) and blacks (B) as parental populations and by estimating the parameter of admixture, m, in the model p_M = (1 ? m) p_W + mp_B (Elston, 1971) where the p's are either gene frequencies or nonmetric trait frequencies. A test of goodness of fit of the model provides a means of ascertaining whether or not the data fit this linear model. While the gene frequency data indicate distances among the three populations which are highly compatible with the linear model of admixture, the nonmetric data show significant deviations from the model. This implies that the frequencies of the nonmetric traits in the populations used in this analysis are not a linear function of genetic distance. This discourages the use of nonmetric traits in making quantitative conclusions about genetic relationships. It also suggests the need for investigation of the use of other skeletal characters for estimating genetic distance, as well as approaches for such investigations through the study of hybrid individuals.     

Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in whites and blacks in the Hemochromatosis and Iron Overload Screening Study

We compared initial screening data of 44,082 white and 27,124 black Hemochromatosis and Iron Overload Screening (HEIRS) Study participants. Each underwent serum transferrin saturation (TfSat) and ferritin (SF) measurements without regard to fasting, and HFE C282Y and H63D genotyping. Elevated measurements were defined as: TfSat more than 50% (men), more than 45% (women); and SF more than 300 ng/ml (men), more than 200 ng/ml (women). Mean TfSat and percentages of participants with elevated TfSat were significantly greater in whites than in blacks. Mean SF and percentages of participants with elevated SF were significantly greater in blacks than in whites. TfSat and SF varied by gender and age in whites and blacks. Prevalences of genotypes that included either C282Y or H63D were significantly greater in whites than in blacks. The prevalence of elevated TfSat and SF plus genotypes C282Y/C282Y, C282Y/H63D, or H63D/H63D was 0.006 in whites and 0.0003 in blacks. Among whites with HFE C282Y homozygosity, 76.8% of men and 46.9% of women had elevated TfSat and SF values. Three black participants had HFE C282Y homozygosity; one had elevated TfSat and SF values. Possible explanations for differences in TfSat and SF in whites and blacks and pertinence to the detection of hemochromatosis, iron overload, and other disorders with similar phenotypes are discussed.