Human Biology

Human Biology 74.1, February 2002

Contents

    Fix, Alan G.
  • Colonization Models and Initial Genetic Diversity in the Americas
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    Subject Headings:
    • America -- Colonization -- Computer simulation.
    • Human population genetics -- America -- Computer simulation.
    Abstract:
      The mode and tempo of colonization of the Americas established the initial pattern of continental genetic diversity. Despite a long history of study, the process of settlement remains controversial in terms of date, rate, and pattern. While there is agreement that Asia was the source population, several different models have been proposed for the colonization process. A classic model postulates a rapid spread of population ("blitzkrieg") from a small band of hunters entering through the corridor between the continental ice sheets circa 11,000 years B.P. Colonization occurred as a wave of expansion across the land masses of North and South America. An alternative model envisions the original colonists initially limiting settlement to the coastline, using boats, and entering the Americas at an earlier date, circa 13,500 B.P. Range expansion along this linear habitat from North to South America could be rapid without requiring population saturation of entire continental regions. These models have markedly different implications for genetic variation among Native Americans. The blitzkrieg colonization process would have generated multiple founder effects leading to extreme loss of genetic variation. Computer simulation of this model shows nearly complete fixation in 30 generations. Simulation of the coastal model, on the other hand, requires less extreme demographic assumptions and maintains substantial genetic variability after 100 generations. Although with the coastal model continental interiors are occupied less rapidly than with the blitzkrieg model, the coastal model allows earlier entry and rapid expansion to the southern limits of the hemisphere.
    Key Words:
      Native Americans, genetic diversity, coastal colonization, blitzkrieg colonization model, computer simulation
    Nath, Swapan Kumar, 1954-
    Chakravarti, Aravinda.
    Chen, Chien-Hsiun.
    Cooper, Richard.
    Weder, Alan.
    Schork, Nicholas J.
  • Segregation Analysis of Blood Pressure and Body Mass Index in a Rural US Community
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    Subject Headings:
    • Blood pressure -- Michigan -- Genetic aspects.
    • Obesity -- Michigan -- Genetic aspects.
    Abstract:
      To assess evidence for a gene with large effect on systolic blood pressure (SBP), diastolic blood pressure (DBP), and body mass index (BMI), we conducted segregation analyses on 261 nuclear families collected from a rural Caucasian community in Michigan. The families were ascertained through a hypertensive proband. Each phenotype was adjusted for significant covariate effects (e.g., gender and age). We used class D regressive models to conduct the segregation analyses. Our analysis results support the segregation of a major gene for BMI, but not for SBP or DBP. A recessive locus effect provided the best explanation for BMI where ~43% of the variance of BMI was due to this gene.
    Keywords:
      segregation analysis, commingling analysis, blood pressure, body mass index
    Wu, June Hsieh.
    Lo, Sing-Kai.
    Wen, Ming-Shien.
    Kao, Jau-Tsuen.
  • Characterization of Apolipoprotein E Genetic Variations in Taiwanese: Association with Coronary Heart Disease and Plasma Lipid Levels
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    Subject Headings:
    • Heart -- Diseases -- Taiwan -- Genetic aspects.
    • Apolipoprotein E.
    • Blood lipids.
    Abstract:
      Apolipoprotein E (apoE, protein; APOE, gene) is important in lipoprotein metabolism. Three isoforms, apoE2 (Cys112 Cys158), apoE3 (Cys112 Arg158), and apoE4 (Arg112 Arg158), are present in the general population. This report investigates the frequency distribution of apoE isoforms and the association of APOE genotypes with plasma lipid profile and coronary heart disease (CHD) in a population of Taiwan. ApoE isoforms were determined genetically by polymerase chain reaction and HhaI restriction enzyme digestion in control and coronary heart disease (CHD) patients. Plasma lipid and lipoprotein concentrations were also determined. The control group exhibited frequencies of 84.6% APOE3, 7.9% APOE4, 7.5% APOE2, 70.6% APOE3E3, 14.4% APOE3E4, 13.6% APOE2E3, and 1.4% APOE2E4. Comparable frequencies were observed in the CHD group. In both APOE2 carrier and APOE3E3 groups, the CHD patients expressed abnormal lipid profiles while the control group expressed normal lipid profiles. The APOE4 carriers, however, expressed abnormal lipid profiles in both normal control and CHD groups. Extremely high apoE levels in the hypertriglyceridemic group (TG > 400 mg/dL) seemed to be undesirable and were often observed in CHD patients
    Keywords:
      APOE2, APOE3, APOE4, frequency distribution, genotype, Taiwanese
    Dutta, Ranjan.
    Reddy, B. Mohan.
    Chattopadhyay, P.
    Kashyap, V. K.
    Sun, Guangyun.
    Deka, Ranjan.
  • Patterns of Genetic Diversity at the Nine Forensically Approved STR Loci in the Indian Populations
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    Subject Headings:
    • Human population genetics -- India.
    Abstract:
      Genetic diversity at the nine short tandem repeat (STR) loci, which are universally approved and widely used for forensic investigations, has been studied among nine Indian populations with diverse ethnic, linguistic, and geographic backgrounds. The nine STR loci were profiled on 902 individuals using fluorescent detection methods on an ABI377 System, with the aid of an Amp-Fl Profiler Plus Kit. The studied populations include two upper castes, Brahmin and Kayastha; a tribe, Garo, from West Bengal; a Hindu caste, Meitei, with historical links to Bengal Brahmins; a migrant group of Muslims; three tribal groups, Naga, Kuki and Hmar, from Manipur in northeast India; and a middle-ranking caste, Golla, who are seminomadic herders from Andhra Pradesh. Gene diversity analysis suggests that the average heterozygosity is uniformly high (>0.8) in the studied populations, with the coefficient of gene differentiation at 0.050 ± 0.0054. Both neighbor-joining (NJ) and unweighted pair group method with arithmetic mean (UPGMA) trees based on DA distances bring out distinct clusters that are consistent with ethnic, linguistic, and/or geographic backgrounds of the populations. The fit of the Harpending and Ward model of regression of average heterozygosity on the gene frequency centroid is found to be good, and the observed outliers are consistent with the population structure and history of the studied populations. Our study suggests that the nine STR loci, used so far mostly for forensic investigations, can be used fruitfully for microevolutionary studies as well, and for reconstructing the phylogenetic history of human populations, at least at the local level.
    Keywords:
      mongoloid tribes of Manipur, castes of Bengal, Andhra Pradesh, genetic heterogeneity, gene flow, population affinities
    Manzano, C.
    Rúa, C. de la.
    Iriondo, M.
    Mazón, L. I.
    Vicario, A.
    Aguirre, A.
  • Structuring the Genetic Heterogeneity of the Basque Population: A View from Classical Polymorphisms
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    Subject Headings:
    • Genetic polymorphisms -- Spain -- País Vasco.
    Abstract:
      In this study we analyze 18 classical polymorphisms (ABO, Rh, MNSs, Lewis, P, Duffy, Kell, ADA, ESD, PGM1, PGD, AK1, ACP1, GLO1, HP, GC, TF, and PI) in over 2000 autochthonous individuals from 14 natural districts in three provinces of the Basque Country (Alava, Guipuzcoa, and Biscay). Heterogeneity analysis via the c 2 test and a calculation of FST indicate that there is significant genetic heterogeneity between the Basque districts. The R matrix informs us that this heterogeneity is not significantly concentrated in a single district or in the districts of a single province, but is rather distributed among several districts belonging to the three provinces analyzed. We undertake to assess the influence of various historical, geographical, and cultural factors on the genetic structure of the Basque population. Analysis suggests that allele distribution is geographically patterned in the Basque Country. The gradient distributions observed in the case of some alleles (ABO*O, RH*cDE, RH*cde, MNS*MS, and ACP1*C) on the basis of Moran's autocorrelation coefficient I, along with the influence of the two main travel routes through the Basque Country (western route through Bilbao and eastern route through Vitoria), suggest that the gene flow tends toward the coast. As regards other factors considered (administrative division, repopulation processes, linguistic heterogeneity, and north vs. south cultural heterogeneity), we detected only a certain influence exerted by an old tribal differentiation (2000 B.P.), which would diminish with the passage of time.
    Keywords:
      Basques, genetic structure, blood groups, erythrocyte enzymes, serum proteins
    Tallis, G. M.
  • Misclassification, Correlation, and Cause of Death Studies
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    Subject Headings:
    • Death -- Causes -- Classification -- Mathematical models.
    Abstract:
      Relatives may tend to die of the same cause. A model is proposed specifying the degree of this association, simultaneously allowing for misclassification of cause of death. These mistakes usually degrade any existing correlation structure, the effects being marked when error rates reach between 20% to 30%. It is then that the search for associations becomes very difficult indeed, and results misleading. This is an example of a wider malaise that can afflict analysis of association, and the developments here apply to two-by-two contingency tables in general.
    Keywords:
      causes of death, misclassification errors, correlation, binary variables, contingency tables
    Singh, Gopal K.
    Siahpush, Mohammad.
  • Ethnic-Immigrant Differentials in Health Behaviors, Morbidity, and Cause-Specific Mortality in the United States: An Analysis of Two National Data Bases
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    Subject Headings:
    • Aliens -- United States -- Mortality.
    • Aliens -- Health and hygiene -- United States.
    Abstract:
      This study examines the extent to which various ethnic-immigrant and US-born groups differ in their risks of all-cause and cause-specific mortality, morbidity, and health behaviors. Using data from the National Longitudinal Mortality Study, 1979­1989, we estimated, for major US racial and ethnic groups, mortality risks of immigrants relative to those of the US-born. The Cox regression model was used to adjust mortality differentials by age, sex, marital status, rural/urban residence, education, and family income. Logistic regression was fitted to the National Health Interview Survey data to determine whether health status and behaviors vary among ethnic-immigrant groups and by length of US residence. Compared with US-born whites of equivalent socioeconomic and demographic background, foreign-born blacks, Hispanics, and Asians/Pacific Islanders (APIs), US-born APIs, US-born Hispanics, and foreign-born whites had, respectively, 48%, 45%, 43%, 32%, 26%, and 16% lower mortality risks. While American Indians did not differ significantly from US-born whites, US-born blacks had an 8% higher mortality risk. Black and Hispanic immigrants experienced, respectively, 52% and 26% lower mortality risks than their US-born counterparts. Considerable differentials were also found in mortality for cancer, cardiovascular, respiratory, infectious disease, and injury, and in morbidity and health behaviors, with API and Hispanic immigrants generally experiencing the lowest risks. Consistent with the acculturation hypothesis, immigrants' risks of smoking, obesity, hypertension, and chronic condition, although substantially lower than those for the US-born, increased with increasing length of US residence. Given the substantial nativity differences in health status and mortality, future waves of immigrants of diverse ethnic and cultural backgrounds will likely have a sizeable impact on the overall health, disease, and mortality patterns in the United States.
    Keywords:
      immigrant, nativity, race/ethnicity, mortality, morbidity, chronic disease, socioeconomic status, smoking, acculturation, Cox regression
    Gibson, Mhairi.
    Mace, Ruth.
  • The Impact of Labor-Saving Technology on First Birth Intervals in Rural Ethiopia
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    Subject Headings:
    • Birth intervals -- Ethiopia.
    • Water-supply, Rural -- Ethiopia.
    Abstract:
      Across the developing world labor-saving technologies introduce considerable savings in the time and energy that women allocate to work. Hormonal studies on natural fertility populations indicate that such a reduction in energetic expenditure (rather than improved nutritional status alone) can lead to increased ovarian function. Other qualitative studies have highlighted a link between labor-saving technology and behavioral changes affecting subsequent age at marriage, which may affect fertility. This bio-demographic study was designed to investigate whether these physiological and behavioral changes affect fertility at a population level by focusing on a recent water development scheme in Southern Ethiopia. The demographic consequences of a reduction in women's workload following the installation of water points, specifically the variation in length of first birth interval (time lapsed between marriage and first birth), are investigated. First birth interval length is closely associated with lifetime fertility in populations that do not practice contraception, longer intervals being associated with lower fertility. Using life tables and multivariate hazard modeling techniques a number of significant predictors of first birth interval length are identified. Covariates such as age at marriage, season of marriage, village ecology, and access to improved water supply have significant effects on variation in first birth intervals. When entered into models as a time-varying covariate, access to a water tap stand is associated with an immediate reduction in length of first birth intervals.
    Keywords:
      women's workload, fertility, intervention technology

Brief Communications

    Benes, Petr.
    Muzík, Jan.
    Benedík, Jaroslav.
    Znojil, Vladimír.
    Vácha, Jirí.
  • The Relationship Among Apolipoprotein(a) Polymorphisms, the Low-Density Lipoprotein Receptor-Related Protein, and the Very Low-Density Lipoprotein Receptor Genes, and Plasma Lipoprotein(A) Concentration in the Czech Population
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    Subject Headings:
    • Genetic polymorphisms -- Czech Republic.
    Abstract:
      Increased plasma concentration of lipoprotein(a) [Lp(a)] is an established independent risk factor for coronary artery disease (CAD), which is strongly genetically determined. This study was designed to investigate the relationship between the K-IV and (TTTTA)n apolipoprotein(a) [apo(a), protein; APOA, gene] polymorphisms, as well as the C766T low-density lipoprotein receptor-related protein (LRP) and the (CGG)n very low density lipoprotein receptor (VLDLR) polymorphisms on the one hand, and plasma Lp(a) levels in Czech subjects who underwent coronary angiography on the other hand. The lengths of the alleles of the APOA K-IV and (TTTTA)n polymorphisms were strongly inversely correlated with plasma Lp(a) levels in univariate analysis (r = -0.41, p < 10-4 and r = -0.20, p < 0.01, respectively). Multivariate analysis revealed significant associations between the APOA polymorphisms studied and plasma Lp(a) levels in subjects expressing only one APOA K-IV allele (p < 10-6 for K-IV and p < 0.001 for TTTTA). In subjects expressing both APOA K-IV alleles, the multivariate analysis revealed that only the APOA K-IV alleles were inversely correlated with plasma Lp(a) levels (p < 0.001). Associations between both the LRP and VLDLR gene polymorphisms and plasma Lp(a) levels were only of borderline significance (p < 0.06 and p < 0.07, respectively) and were not confirmed in multivariate analysis. In conclusion, both APOA length polymorphisms significantly influenced plasma Lp(a) concentration in the Czech population studied, and this circumstance could explain the association in this population observed earlier between APOA (TTTTA)n polymorphism and CAD (Benes et al. 2000). Only a minor role in the regulation of plasma Lp(a) levels is suggested for the C766T LRP and the (CGG)n VLDLR polymorphisms.
    Keywords:
      apolipoprotein(a), lipoprotein(a), low density lipoprotein receptor-related protein, very low density lipoprotein receptor, genetic polymorphism
    Kumar, Theresa.
    Liestøl, Knut.
    Mæhlen, Jan.
    Hiorth, Aksel.
    Jettestuen, Espen.
    Lind, Helge.
    Brorson, Sverre-Henning.
  • Allele Frequencies of Apolipoprotein E Gene Polymorphisms in the Protein Coding Region and Promoter Region (-491a/T) in a Healthy Norwegian Population
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    Subject Headings:
    • Apolipoprotein E.
    • Genetic polymorphisms -- Norway.
    Abstract:
      This study examines the distribution of apolipoprotein E (APOE) alleles in a population of healthy male and female Norwegians (n = 798) below the age of 40. The -491A/T polymorphism of the promoter region of the APOE gene was also examined. A seminested polymerase chain reaction was applied in the genotyping. The results showed that the E3 allele had the highest frequency (0.744), followed by E4 (0.198) and E2 (0.058). The APOE frequencies found in this study differ significantly from those obtained in earlier Norwegian APOE phenotypings. The allele frequencies in the -491 site of the promoter region were 0.845 for the A allele and 0.155 for the T allele. The genotype frequency was highest for AA (0.707), followed by AT (0.277) and TT (0.016). Moreover, the A allele was in linkage disequilibrium to E4.
    Keywords:
      Alzheimer's disease, APOE, apolipoproteins, atherosclerosis
    Medintz, I.
    Kinston, C.
    Duran, H.
    Barry, L.
    Levine, L.
    Kobilinsky, L.
  • Characterization of Two New York City Jewish Populations at Six Short Tandem Repeat Loci
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    Subject Headings:
    • Jews -- New York (State) -- New York.
    • Human population genetics -- New York (State) -- New York.
    Abstract:
      The Hasidic and non-Hasidic Jewish communities of New York City represent two subpopulations with long-documented histories of restrictive marriage patterns and a high degree of endogamy. As part of a continuing study into their genetic structure, allele frequencies were determined for the six tetrameric short tandem repeat (STR) loci: FESFPS, F13AO1, vWA, CSF1PO, TPOX, and THO1. All loci were tested for Hardy-Weinberg equilibrium (HWE) by three tests; chi-square analysis, Monte Carlo chi-square analysis, and the exact test. The non-Hasidic population failed to meet HWE at the F13A01, FESFPS, and CSF1PO loci by all three tests. The Hasidic population also failed to meet HWE at the same loci by some of the tests. Comparison of the Hasidic to the non-Hasidic population using an R x C contingency table demonstrated a similarity at only the vWA locus. Significant differences exist when comparing the two Jewish populations to a reference Caucasian population.
    Keywords:
      STR, allele frequencies, FESFPS, F13AO1, vWA, CSF1PO, TPOX, THO1, Jewish populations, forensic science

Book Reviews

    Halberstein, Robert.
  • A Population History of North America (review)
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    Subject Headings:
    • Haines, Michael R., ed. Population history of North America.
    • Steckel, Richard H. (Richard Hall), 1944-, ed.
    • North America -- Population -- History.
    Wienker, Curtis W.
  • Forensic Osteological Analysis: A Book of Case Studies (review)
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    Subject Headings:
    • Fairgrieve, Scott I., ed. Forensic osteological analysis: a book of case studies.
    • Forensic anthropology -- Case studies.



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