Immunoglobulin Allotypes in Several North American Eskimo Populations

This is the published version. Copyright 1990 Wayne State University Press.Genetic data consisting of immunoglobulin testing (GM and KM) from 631 Eskimos from 5 populations are reported. These populations are Savoonga, Gambell (St. Lawrence Island), Wales, King Island, and Mckenzie Delta, Baffin Island. The GM and KM haplotypes are analyzed and compared to those occurring in Greenland, Canadian, Alaskan, and Siberian Eskimos and to other Siberian indigenous populations. These analyses suggest that during the peopling of the New World, four separate migrant groups crossed Beringia at various times

Immunoglobulin Haplotypes: Markers of Reproductive Success?

This is the published version. Copyright 1990 Wayne State University Press.Immunoglobulin haplotypes are highly polymorphic and are useful for analyses of both macro-and microdifferentiation of populations. The origins of this diversity are not known, but recent reports suggest strong selection at this locus. Increased rates of first-trimester spontaneous abortions have been reported when parents share GM phenotypes. Reduced fertility has been observed in mixed European descent white and Hutterite populations when both parents share immunoglobulin haplotypes. Population samples with completed family information and GM haplotype data are rare; the objective here is to provide this information on another sample. A sample of 242 Mennonite couples with mothers older than 40 years was divided into 3 groups of matings based on how many haplotypes were shared: 0, 1, or 2. The distribution of mean completed family sizes for the three groups were 3.35 ± 1.85 (n = 23), 3.47 ± 1.69 (n = 128), and 3.37 ± 1.60 (n = 91), respectively; these values were not significantly different (F = 0.145, p = 0.865). The log-rank test was used to compare the time-to-next-birth curves. The intervals between first and later births (2-4 births) were not significantly different for the three subgroups either. There is also only limited evidence for segregation distortion in another sample of 923 offspring (in which at least one parent is heterozygous)

Immunoglobulin Haplotypes – Markers of Reproductive Success

Immunoglobulin haplotypes are highly polymorphic and are useful for analyses of both macro- and microdifferentiation of populations. The origins of this diversity are not known, but recent reports suggest strong selection at this locus. Increased rates of first-trimester spontaneous abortions have been reported when parents share GM phenotypes. Reduced fertility has been observed in mixed European descent white and Hutterite populations when both parents share immunoglobulin haplotypes. Population samples with completed family information and GM haplotype data are rare; the objective here is to provide this information on another sample. A sample of 242 Mennonite couples with mothers older than 40 years was divided into 3 groups of matings based on how many haplotypes were shared: 0, 1, or 2. The distribution of mean completed family sizes for the three groups were 3.35 ± 1.85 ( n = 23), 3.47 ± 1.69 ( n = 128), and 3.37 ± 1.60 ( n = 91), respectively; these values were not significantly different (F = 0.145, p = 0.865). The log-rank test was used to compare the time-to-next-birth curves. The intervals between first and later births (2-4 births) were not significantly different for the three subgroups either. There is also only limited evidence for segregation distortion in another sample of 923 offspring (in which at least one parent is heterozygous)

Patterns of DNA Methlyation across the Leptin Core Promoter in Four Diverse Asian and North American Populations

DNA methylation is the most widely studied of epigenetic mechanisms, with environmental effects recorded through patterned attachments of methyl groups along the DNA that are capable of modifying gene expression without altering the DNA sequencing. The degree to which these patterns of DNA methylation are heritable, the expected range of normality across populations, and the phenotypic relevance of pattern variation remain unclear. Genes regulating metabolic pathways appear to be vulnerable to ongoing nutritional programming over the life course, as dietary nutrients are significant environmental determinants of DNA methylation, supplying both the methyl groups and energy to generate the methylation process. Here we examine methylation patterns along a region of the metabolic gene leptin (LEP). LEP's putative functions include regulation of energy homeostasis, with its signals affecting energy intake and expenditure, adipogenesis and energy storage, lipid and glucose metabolism, bone metabolism, and reproductive endocrine function. A pattern of differential methylation across CpG sites of the LEP core promoter has been previously identified; however, any consistency of pattern or its phenotypic significance is not fully elucidated among populations. Using DNA extracted from unfractionated white blood cells of peripheral blood samples, our pilot study, divided into two parts, examined the significance of variation in DNA methylation patterns along the leptin core promoter in four populations (phase 1) and used biomarkers reflecting leptin's functional process in two of those populations, western Buryat of Siberia and the Mennonite of central Kansas, to investigate the relevance of the ethnic variation identified in the DNA methylation (phase 2). LEP's core promoter region contains both the binding site for C/EBPα (CCAAT/enhancer binding protein alpha), which tempers the final step in adipocyte maturity and capacity to synthesize leptin, and the TATA motif controlling leptin synthesis. Previous studies report that increased methylation in this region is correlated to decreased gene expression, suggesting tissue-specific methylation variation at this region (Melzner et al. 2002). We hypothesized that evidence of nutritional epigenetic programming would be identified through variation in patterns of DNA methylation and that functional relevance of that variation among populations would be identified through biomarkers that reflect leptin's metabolic signals: serum leptin levels, lipoproteins of the lipid transport system, and anthropometric measures. In phase 1, our combined analyses of 313 individuals documented a distinct and consistent overall pattern of differential DNA methylation across seven CpG sites of LEP core promoter in all ethnicities and both sexes. This pattern replicates those identified in previous studies, suggesting a conserved core promoter region across populations. Phase 2 analyses of two of the four populations (n = 239), correlating methylation at the C/EBPα transcription binding site (TBS) with metabolic and anthropometric biomarkers reflecting LEP roles, showed that stature, which reflects bone growth and remodeling, was significantly and inversely correlated with the percentage of DNA methylation at this site in both sexes. We suggest that variation in DNA methylation along the LEP core promoter plays a substantial role in energy signals affecting both adipogenesis and bone metabolism

Immunoglobulin haplotype frequencies in Anabaptist population samples: Kansas and Nebraska Mennonites and Indiana Amish

This is the published version, also available here: http://www.jstor.org/stable/41465452

The Black Caribs (Garifuna) of Livingston, Guatemala: Genetic Markers and Admixture Estimates

This is the published version. Copyright 1981 Wayne State University Press.The Black Caribs (Garifuna) are descendants of West African and Amerindian groups from St. Vincent Island who were transplanted to the coast of Central America in 1797. The founding population, estimated at 2,500 to 5,000 persons, gave rise to 65,000 Black Caribs who presently reside in 54 fishing villages spread geographically from Stann Creek (Dangriga), Belize, to LaFe, Nicaragua. This paper documents the genetic variation observed for 24 blood group, red blood cell and serum protein systems in one of the Black Carib communities of Livingston, Guatemala. Admixture estimates, based upon Gm, suggest the following parental population contribution for Livingston: 70% African, 29% Indian and 1% European

Genetic Admixture and Gallbladder Disease in Mexican Americans

Gallbladder disease is a common source of morbidity in the Mexican American population. Genetic heritage has been proposed as a possible contributor, but evidence for this is limited. Because gallbladder disease has been associated with Native American heritage, genetic admixture may serve as a useful proxy for genetic susceptibility to the disease in epidemiologic studies. The objective of our study was to examine thepossibility that gallbladder disease is associated with greater Native American admixture in Mexican Americans. This study used data from the Hispanic Health and Nutrition Examination Survey and was based on 1,145 Mexican Americans who underwent gallbladder ultrasonography and provided usable phenotypic information. We used the GM and KM immunoglobulin antigen system to generate estimates of admixture proportions and compared these for individuals with and without gallbladder disease. Overall, the proportionate genetic contributions from European, Native American, and African ancestries in our sample were 0.575, 0.390, and 0.035, respectively. Admixture proportions did not differ between cases and noncases: Estimates of Native American admixture for the two groups were 0.359 and 0.396, respectively, but confidence intervals for estimates overlapped. This study found no evidence for the hypothesis that greater Native American admixture proportion is associated with higher prevalence of gallbladder disease in Mexican Americans. Reasons for the finding that Native American admixture proportions did not differ between cases and noncases are discussed. Improving our understanding of the measurement, use, and limitations of genetic admixture may increase its usefulness as an epidemiologic tool as well as its potential for contributing to our understanding of disease distributions across populations

VNTR DNA Variation in Siberian Indigenous Populations

This is the published version. Copyright 1995 Wayne State University Press.The VNTR loci D7S104, D11S129, D18S17, D20S15, and D21S112 in three indigenous Siberian populations were analyzed to determine the populations' genetic structure. Using the Kolmogorov- Smirnov test, we found that the Siberian indigenous populations of Surinda and Sulamai are separated at the D1 IS 129 locus (p < 0.05). However, the population of Poligus is genetically homogeneous compared with the villages of Sulamai and Surinda. Principal component plots for the sets of VNTR loci cluster the Siberian groups together, reflecting the homogeneity of these populations. An analysis of mean per locus heterozygosity versus the distance from the centroid of distribution suggests gene flow into Sulamai but little genetic exchange with Surinda and Poligus. Ultimately, the VNTR data reflect the genetic distinctiveness of the Kets and the Evenki

Immunoglobulin Haplotype Frequencies in Anabaptist Population Samples: Kansas and Nebraska Mennonites and Indiana Amish

Anabaptist history is a chronicle of repeated migrations, fissions, and fusions of various subgroups. The effects of these events should be evident in the population biology of the Anabaptist groups. No prior genetic studies have included the polymorphic and highly informative immunoglobulin markers. Here, 685 serum samples representing 1 Amish and 3 Mennonite community samples (7 congregations) were studied for immunoglobulin allotypes. The haplotypes IGHG*F B, IGHG*A,Z G, and IGHG*A,X,Z G range in frequency from 0.542 to 0.765, 0.123 to 0.290, and 0.075 to 0.170, respectively. IGK*1 frequencies range from 0.035 to 0.077, All frequencies are within expected ranges for central and western European population samples, There was considerable intergroup variability among the Anabaptist samples that was statistically significant x29 = 22.63, 0.005 \u3c p \u3c 0.01), Principal component analyses, including the immunoglobulin allotype frequencies and published data on ABO, MN, and Rhesus (Dd) markers, demonstrate that the Mennonite congregation samples with close historical ties group together acid are distinct from the Amish and Meridian congregation samples