Human Biology

Human Biology
Volume 75, Number 5, October 2003




    Comuzzie, Anthony G.
    Mitchell, Bratxton D.
    Cole, Shelley.
    Martin, Lisa J.
    Hsueh, Wen-Chi.
    Rainwater, David Luther.
    Almasy, Laura.
    Stern, Michael, 1957-
    Hixson, James.
    MacCluer, Jean W.
    Blangero, John.
  • The Genetics of Obesity in Mexican Americans: The Evidence from Genome Scanning Efforts in the San Antonio Family Heart Study
    [Access article in HTML] [Access article in PDF]
    Subject Headings:
    • Obesity -- Texas -- San Antonio -- Genetic aspects.
    • Atherosclerosis -- Texas -- San Antonio.
    • Mexican Americans -- Health and hygiene -- Texas -- San Antonio.
      Recent estimates indicate that approximately 18% of the population in the United States can be considered obese (defined as a body mass index [BMI] ≥ 30), and this rate is even higher among ethnic populations such as Mexican Americans. This figure becomes very significant given the strong evidence for obesity as a major risk factor for a variety of chronic diseases including type 2 diabetes mellitus and coronary heart disease. The search for genes involved in the expression of obesity has been one of the focal points of the San Antonio Family Heart Study (SAFHS), a large, family-based study to examine the genetics of risk for atherosclerosis in Mexican Americans. To date, our genome scanning effort has reported two quantitative trait loci (QTLs) with pronounced effects on the expression of a variety of obesity—related phenotypes (e.g., leptin levels, fat mass, and BMI) located on chromosomes 2 and 8. We are currently working to further refine these signals and to identify the genes and allelic variants involved. Here, we summarize the latest results from our ongoing efforts to identify obesity genes in the San Antonio Family Heart Study.
      genome scan, quantitative trait loci, minority populations, common complex diseases
    Belyaeva, Olga.
    Bermisheva, Marina.
    Khrunin, Andrey.
    Slominsky, Petr.
    Bebyakova, Natalia.
    Khusnutdinova, E. K. (Elza Kamilevna)
    Mikulich, Aleksei Ignatevich.
    Limborskaia, S. A. (Svetlana Andreevna)
  • Mitochondrial DNA Variations in Russian and Belorussian Populations
    [Access article in HTML] [Access article in PDF]
    Subject Headings:
    • Mitochondrial DNA -- Europe, Eastern.
    • Russians.
    • Belarusians.
    • Human population genetics -- Europe, Eastern.
      The sequence of the first hypervariable segment (HVS-I) of mitochondrial DNA (mtDNA) was determined in 251 individuals from three eastern Slavonic populations, two Russian and one Belorussian. Within HVS-I, 78 polymorphic positions were revealed. Within-population diversity of HVS-I varies slightly among three samples; its estimates do not differ strongly from those for European populations. Haplotype diversity for three populations calculated in this study is 0.949; mean pairwise differences estimate is 3.59. To assign mtDNA sequences to major phylogenetic clusters, haplogroup-specific restriction polymorphisms were selectively typed in most samples. The haplogroup distribution in the total Eastern Slavonic sample is similar to that reported for the European sample. However, the separate consideration of three Slavonic samples reveals the complicated structure of the mitochondrial gene pool in the Eastern European area. Data of this study support the proposed model of the origin of modern Eastern Slavs, which implies the admixture of ancient Slavonic tribes with pre-Slavonic populations of Eastern Europe. These data should contribute to general studies of mitochondrial DNA variations in Europe.
      mitochondrial DNA, polymorphism, haplogroup, Eastern Slavonic populations
    Devor, Eric Jeffrey, 1949-
    Moffat-Wilson, Kristin A.
  • Molecular and Temporal Characteristics of Human Retropseudogenes
    [Access article in HTML] [Access article in PDF]
    Subject Headings:
    • Molecular evolution.
    • Human genome.
      One of the primary forces driving genome evolution is retrotranscription. In addition to creating new genetic material from which new genes with new functions arise, retrotranscription leaves traces of its action in the form of retropseudogenes. These loci, which are intronless, retrotransposed copies of mature mRNAs from functional antecedent genes, are layered throughout genomes as a molecular fossil record of genome evolution. A survey of 138 functional source genes in the human genome has revealed more than three hundred retropseudogenes. Analysis of the characteristics of the source genes shows that, on average, their size, G/C content, and expression patterns fit the canonical features of source genes reported elsewhere. Details of insertion site duplications for these loci are consistent with a model of retropseudogene formation involving endogenous retrotranscription and enzymatic mobilization and retroposition. Retrotranscription event age estimates reveal a pattern in which the highest densities appear after major phylogenetic events in primate history and then decline. This temporal pattern suggests that the processes forging genome evolution are most active during periods of speciation and adaptive radiation and then steadily diminish until the next burst of activity.
      retrotranscription, molecular fossil record, retroposition, primate phylogeny
    Sitalaximi, T.
    Trivedi, R.
    Kashyap, V. K.
  • Microsatellite Diversity among Three Endogamous Tamil Populations Suggests Their Origin from a Separate Dravidian Genetic Pool
    [Access article in HTML] [Access article in PDF]
    Subject Headings:
    • Microsatellites (Genetics) -- India.
    • Tamil (Indic people) -- Origin.
    • Dravidians.
    • Human population genetics -- India.
      The genetic profiles based on 15 autosomal microsatellite markers were analyzed among three socially distinct endogamous Dravidian populations: Tanjore Kallar, Vanniyar, and Pallar of Tamil Nadu, southern India, in order to understand their origin and the extent of genetic affinity and diversity among them. All loci were highly polymorphic and followed Hardy-Weinberg expectations except for loci D13S317 in Tanjore Kallars and D7S820 in Vanniyars. The SK 2 criterion test showed no evidence of association among the 15 loci in the studied populations. The extent of gene differentiation among the three populations was low (GST = 0.012), suggesting proximity between them. The phylogenetic dendrogram based on allele frequencies places them in a separate cluster, away from other compared Indo-European populations. The fit of the Harpending and Ward model of regression was found to be good and consistent with the extent of endogamy followed by the respective populations. These findings support a separate origin of the Dravidians and reveal an overall genetic unity among the studied Tamil populations belonging to different strata of the social hierarchy. The extent of diversity found among them probably resulted from the strict endogamous practices that they follow.
      microsatellite, population genetics, origin, dravidian, tamil population, tanjore kallar, vanniyar, pallar
    Bentzen, Joan.
    Poulsen, Pernille.
    Vaag, Allan.
    Fenger, Mogens.
  • Further Studies of the Influence of Apolipoprotein B Alleles on Glucose and Lipid Metabolism
    [Access article in HTML] [Access article in PDF]
    Subject Headings:
    • Apolipoproteins.
    • Glucose -- Metabolism.
    • Lipids -- Metabolism.
      The effect of five genetic polymorphisms in the apolipoprotein B gene on parameters of lipid and glucose metabolism was assessed in 564 Danish mono- and dizygotic twins. Genotypes in apolipoprotein B T71I (ApaLI RFLP), A591V (AluI RFLP), L2712P (MvaI RFLP), R3611Q (MspI RFLP), and E4154K (EcoRI RFLP) were established using polymerase chain reaction and restriction enzyme digests. The effect of genotypes on lipid levels and on glucose, insulin, and HOMA (i.e., calculated parameters of beta-cell function and insulin resistance) was assessed by multivariate analyses of variance correcting for the effect of gender, age, glucose tolerance status, and body mass index. The effect of genotype on the risk of having impaired glucose metabolism was calculated by logistic regression analysis. Finally, linkage between allele sharing and physiological parameters was calculated by the new Haseman-Elston method. The allele frequencies of all five polymorphisms were similar to those previously reported for Caucasian populations. The L2711P (MvaI RFLP) polymorphism influenced LDL-cholesterol and LDL-to-HDL measures (p = 0.04 and 0.03, respectively), while the R3611Q (MspI RFLP) polymorphism had an effect on the insulin-to-glucose ratio (p = 0.04), and E4154K (EcoRI RFLP) influenced HOMAbeta (p = 0.04). Significant interactions were observed between genotype in T71I (ApaLI RFLP), A591V (AluI RFLP), R3611Q (MspI RFLP), and E4154K (EcoRI RFLP) and glucose tolerance on lipid-related parameters (0.03 < p < 0.004), and between genotype in L2712P (MvaI RFLP) and E4154K (EcoRI RFLP) and gender on lipid and glucose-related parameters (0.02 < p < 0.003). No genotypes were significantly associated with impaired glucose tolerance measured by logistic regression. Likewise, no effect of allele sharing in the five polymorphisms was seen in the dizygotic twins. The effect of the polymorphisms on lipid and glucose parameters could be mediated through linkage to genes with known effect on glucose metabolism or through free fatty acids exerting their effect on glucose metabolism.
      type 2 diabetes, twins, allele sharing, genetic interactions, apolipoprotein B polymorphisms, glucose and lipid metabolism
    Kemkes-Grottenthaler, Ariane.
  • More than a Leap of Faith: The Impact of Biological and Religious Correlates on Reproductive Behavior
    [Access article in HTML] [Access article in PDF]
    Subject Headings:
    • Human reproduction -- Religious aspects -- Christianity -- History -- 19th century.
    • Family -- Germany -- Ludwigshafen am Rhein -- History -- 19th century.
    • Ludwigshafen am Rhein (Germany) -- Population -- History -- 19th century.
      Using a conceptual model that integrates both social and biomedical factors of causation, this paper tries to delineate the pathways through which the reproductive characteristics of a multidenominational community are characterized. In total, 5513 historical entries from family reconstitution were available. Selection of data was guided by the inclusion of information about religious affiliation. Only married couples with children as well as single mothers with the relevant information were considered. Of these, 1855 entries were of Roman Catholic (C), 1143 of Lutheran/Protestant (L/P2 ), and 609 of Reformed Calvinist (R) denomination. The analysis documented differential nuptiality and fertility patterns, which at first glance may be interpreted along religious lines. However, the paper attempts to show that these various sociocultural patterns associated with religious behavior are merely proximate determinants, while the ultimate causes are biological in nature (i.e., differential parental age at marriage or birth, different parity progression regimes, differences in median interpregnancy interval, as well as highly variable sibship size within the denominational groups).
      historical demography, fertility, mortality, religion
    Kapoor, A. K.
    Kshatriya, Gautam K.
    Kapoor, Satwanti.
  • Fertility and Mortality Differentials among the Population Groups of the Himalayas
    [Access article in HTML] [Access article in PDF]
    Subject Headings:
    • Fertility, Human -- Himalaya Mountains Region.
    • Mortality -- Himalaya Mountains Region.
    • Himalaya Mountains Region -- Population.
      Selection potential based on differential fertility and mortality has been computed for 24 Himalayan populations classified into four groups: Himalayan populations with Asian affinities (HPA), Brahmans, Rajputs, and Scheduled Castes (Shilpkars). Irrespective of the methodology followed, the total index of selection was found to be highest (0.794) in Barbatiyas (HPA) and lowest (0.428) in Rajputs. The relative contribution of fertility component (If) to the index of total selection (It) is higher than the corresponding mortality component (Im) in all 24 groups. An analysis of correlation and regression on different components of the indices of selection performed among these 24 Himalayan populations revealed that the contributions of If in determining It are stronger than Im. Further, both If and Im are strongly associated with It and account for 76% and 67% of total variability in It, respectively. Examination of the relationship of the selection potential with the differential altitude and social categories showed a decrease in the index from high altitude to low altitude. Similarly, an inverse relationship was found between various indices and social categories. Himalayan populations with Asian affinities (HPA) in the present study reveal higher values of selection potential. Interestingly, these populations invariably reside in high altitude areas where health and communication infrastructures are poorly developed. Thus, the differential pattern of fertility and mortality among the Himalayan populations indicates that they are passing through a stage of transition, as is evident from the decrease in various selection indices. It is also apparent that groups that are less developed socioeconomically, as well as those inhabiting high altitude regions, are lagging behind in this process.
      Himalayas, fertility, mortality, average live births, selection potential, altitude, social categories
    Chen, Jim-Yih.
    Chang, Hsing-Yi.
    Pan, Wen-Harn.
  • A Modified Locally Weighted Method for Developing Reference Standards for Height, Weight, and Body Mass Index of Boys and Girls Aged 4 to 18 in Taiwan
    [Access article in HTML] [Access article in PDF]
    Subject Headings:
    • Children -- Anthropometry -- Taiwan.
      The objectives of this study are to modify the locally weighted method to obtain reference values for height, weight, and body mass indices (BMI); to describe the median growth velocity of children aged 4 to 18 in Taiwan; and to compare those values with data from other countries. We modified the LOCAL method to generate empirical percentiles and used the locally weighed regression to smooth the percentiles. We examined the smoothed percentiles against original data to ensure that smoothed percentiles were within 1% of errors. We used numerical differentiation of the 50th percentiles of height and weight to obtain the velocity of growth in height and weight, respectively. We applied our method to the data of the Nutrition and Health Survey in Taiwan, 1993-1996, which was a multistaged stratified sample. The sample included 2351 boys and 2355 girls aged 4 to 18. Our results indicate that (a) the proposed method, which utilizes the original data, guarantees the percentiles within 1% errors; (b) before puberty, the height, weight, and BMI of Taiwanese children are not much different from those of their counterparts in Western countries; and (c) after puberty and at the stage of young adulthood, the height, weight, and BMI of Taiwanese youth are below the levels of those in Western young adults. Genetic makeup and dietary patterns may contribute to these phenomena.
      refference values, local method, locally weighted regression, height, weight, BMI

Brief Communication

    Balgir, Praveen P.
    Kaur, Mandeep.
  • Restriction Isotyping of Apolipoprotein E among Populations of Punjab, Northwestern India
    [Access article in HTML] [Access article in PDF]
    Subject Headings:
    • Apolipoprotein E.
    • Human population genetics -- India -- Punjab.
      The molecular polymorphism displayed by apolipoprotein E (apoE, protein; APOE, gene) has been listed as a risk factor for susceptibility to various disorders, such as those associated with lipid metabolism and arteriosclerosis. Data from many population groups are available. The present study endeavors to add to the world population database for alleles encountered at this locus. One hundred sixty-five individuals representing four castes and a mixed group from Punjab, a state in northwestern India, were analyzed for APOE isotyping. Intercaste group comparisons of allele frequencies revealed statistically insignificant differences, pointing to homogeneity at this locus among Punjabi caste groups, which can be considered as one Punjabi population. A further comparison of this Punjabi sample with other populations of the world revealed the Punjabi population to be closer to some European populations than to either African or Asian populations, a pointer to the ethnic origins of the Punjabi population.
      apolipoprotein E, Indian population, Punjabi population, polymorphism, PCR

Book Review

    Brace, C. Loring.
  • Biologists and the Promise of American Life from Meriwether Lewis to Alfred Kinsey (review)
    [Access article in HTML] [Access article in PDF]
    Subject Headings:
    • Pauly, Philip J. Biologists and the promise of American life from Meriwether Lewis to Alfred Kinsey.
    • Biology -- United States -- History.

Instructions for Contributors

[Project MUSE] [Search Page] [Journals] [Journal Directory] [Top]