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1.
Dennis H. O'Rourke 《American anthropologist》2003,105(1):101-109
The use of genetic methods and data has a long history in anthropology. Following dramatic growth in anthropological genetic field studies in the 1960s and 1970s, the revolution in molecular genetic methods during the 1980s spurred another period of growth and expansion. The earlier emphasis on examination of the role of alternative evolutionary mechanisms in structuring allele frequency variation within and between populations is reflected today in a renewed focus on unraveling demographic history using highly informative molecular markers. The existence of large, publicly available molecular genetic databases, coupled with advances in analytical methods, makes it possible to tackle a wide variety of problems in human evolution not possible with classical markers and traditional analytical methods, These recent advances will help frame the nature of research in the discipline in the near term. [Keywords; human evolutionary genetics, phylogenetics, molecular markers, genetic variation, population structure] 相似文献
2.
During the initial stages of the genome revolution human genetics was hugely successful in discovering the underlying genes for monogenic diseases. Over 3,000 monogenic diseases have been discovered with simple patterns of inheritance. The unravelling and identification of the genetic variants underlying complex or multifactorial traits, however, is proving much more elusive. There have been over 1,000 significant variants found for many quantitative and binary traits yet they explain very little of the estimated genetic variance or heritability evident from family analysis. There are many hypotheses as to why this might be the case. This apparent lack of information is holding back the clinical application of genetics and shedding doubt on whether more of the same will reveal where the remainder of the variation lies. Here we explore the current state of play, the types of variants we can detect and how they are currently exploited. Finally we look at the future challenges we must face to persuade the human genome to yield its secrets. 相似文献
3.
Peter Taylor 《Biology & philosophy》2010,25(1):1-31
This article examines eight “gaps” in order to clarify why the quantitative genetics methods of partitioning variation of
a trait into heritability and other components has very limited power to show anything clear and useful about genetic and
environmental influences, especially for human behaviors and other traits. The first two gaps should be kept open; the others
should be bridged or the difficulty of doing so should be acknowledged: 1. Key terms have multiple meanings that are distinct;
2. Statistical patterns are distinct from measurable underlying factors; 3. Translation from statistical analyses to hypotheses
about measurable factors is difficult; 4. Predictions based on extrapolations from existing patterns of variation may not
match outcomes; 5. The partitioning of variation in human studies does not reliably estimate the intended quantities; 6. Translation
from statistical analyses to hypotheses about the measurable factors is even more difficult in light of the possible heterogeneity
of underlying genetic or environmental factors; 7. Many steps lie between the analysis of observed traits and interventions
based on well-founded claims about the causal influence of genetic or environmental factors; 8. Explanation of variation within
groups does not translate to explanation of differences among groups. At the start, I engage readers’ attention with three
puzzles that have not been resolved by past debates. The puzzles concern generational increases in IQ test scores, the possibility
of underlying heterogeneity, and the translation of methods from selective breeding into human genetics. After discussing
the gaps, I present each puzzle in a new light and point to several new puzzles that invite attention from analysts of variation
in quantitative genetics and in social science more generally. The article’s critical perspectives on agricultural, laboratory,
and human heritability studies are intended to elicit further contributions from readers across the fields of history, philosophy,
sociology, and politics of biology and in the sciences. 相似文献
4.
Longitudinal as well as cross-sectional studies have shown variations with age in heritability estimates for body dimensions from infancy to adulthood, even though the patterns of variation are not completely clear. Further study on this subject is of great interest and may help obesity interventions for preventing or treating obesity in children. Therefore, the aim of the present study is to analyse the changes in the genetic and environmental architecture of 8 body linearity and obesity-related phenotypes during the growth process in a cross-sectional sample of 1018 nuclear families from the province of Biscay (Basque Country, Spain). The contribution of additive genetic effects to the variation of the analysed traits was estimated by a variance component analysis using the SOLAR program. Moderate to high heritability estimates were obtained for all 8 anthropometric phenotypes (38.23–65.98%). The heritability values show an increasing trend with age and in the course of the entire ontogenetic development two age periods were remarkable. At 7+–8+ years of age a strong increase in heritability estimates was found for all the anthropometric phenotypes, except for the sum of skinfolds (SF6), reflecting the biological significance of genes during mid-childhood. During puberty, most of the obesity related phenotypes showed their highest heritability values while linear measurements and weight presented a decrease in the genetic contributions. In conclusion, this study confirms that additive genetic influences have a considerable effect on body linearity and obesity-related traits throughout the growth period and that mid-childhood and puberty are very sensitive periods in human life cycle. 相似文献
5.
Bruno A. Buzatto Mathieu Buoro Wade N. Hazel Joseph L. Tomkins 《Proceedings. Biological sciences / The Royal Society》2015,282(1821)
The threshold expression of dichotomous phenotypes that are environmentally cued or induced comprise the vast majority of phenotypic dimorphisms in colour, morphology, behaviour and life history. Modelled as conditional strategies under the framework of evolutionary game theory, the quantitative genetic basis of these traits is a challenge to estimate. The challenge exists firstly because the phenotypic expression of the trait is dichotomous and secondly because the apparent environmental cue is separate from the biological signal pathway that induces the switch between phenotypes. It is the cryptic variation underlying the translation of cue to phenotype that we address here. With a ‘half-sib common environment’ and a ‘family-level split environment’ experiment, we examine the environmental and genetic influences that underlie male dimorphism in the earwig Forficula auricularia. From the conceptual framework of the latent environmental threshold (LET) model, we use pedigree information to dissect the genetic architecture of the threshold expression of forceps length. We investigate for the first time the strength of the correlation between observable and cryptic ‘proximate’ cues. Furthermore, in support of the environmental threshold model, we found no evidence for a genetic correlation between cue and the threshold between phenotypes. Our results show strong correlations between observable and proximate cues and less genetic variation for thresholds than previous studies have suggested. We discuss the importance of generating better estimates of the genetic variation for thresholds when investigating the genetic architecture and heritability of threshold traits. By investigating genetic architecture by means of the LET model, our study supports several key evolutionary ideas related to conditional strategies and improves our understanding of environmentally cued decisions. 相似文献
6.
Genetic susceptibility to thrombosis and its relationship to physiological risk factors: the GAIT study. Genetic Analysis of Idiopathic Thrombophilia
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Souto JC Almasy L Borrell M Blanco-Vaca F Mateo J Soria JM Coll I Felices R Stone W Fontcuberta J Blangero J 《American journal of human genetics》2000,67(6):1452-1459
Although there are a number of well-characterized genetic defects that lead to increased risk of thrombosis, little information is available on the relative importance of genetic factors in thrombosis risk in the general population. We performed a family-based study of the genetics of thrombosis in the Spanish population to assess the heritability of thrombosis and to identify the joint actions of genes on thrombosis risk and related quantitative hemostasis phenotypes. We examined 398 individuals in 21 extended pedigrees. Twelve pedigrees were ascertained through a proband with idiopathic thrombosis, and the remaining pedigrees were randomly ascertained. The heritability of thrombosis liability and the genetic correlations between thrombosis and each of the quantitative risk factors were estimated by means of a novel variance component method that used a multivariate threshold model. More than 60% of the variation in susceptibility to common thrombosis is attributable to genetic factors. Several quantitative risk factors exhibited significant genetic correlations with thrombosis, indicating that some of the genes that influence quantitative variation in these physiological correlates also influence the risk of thrombosis. Traits that exhibited significant genetic correlations with thrombosis included levels of several coagulation factors (factors VII, VIII, IX, XI, XII, and von Willebrand), tissue plasminogen activator, homocysteine, and the activated protein C ratio. This is the first study that quantifies the genetic component of susceptibility to common thrombosis. The high heritability of thrombosis risk and the significant genetic correlations between thrombosis and related risk factors suggest that the exploitation of correlated quantitative phenotypes will aid the search for susceptibility genes. 相似文献
7.
Genome-wide association studies have thus far failed to explain the observed heritability of complex human diseases. This is referred to as the "missing heritability" problem. However, these analyses have usually neglected to consider a role for epigenetic variation, which has been associated with many human diseases. We extend models of epigenetic inheritance to investigate whether environment-sensitive epigenetic modifications of DNA might explain observed patterns of familial aggregation. We find that variation in epigenetic state and environmental state can result in highly heritable phenotypes through a combination of epigenetic and environmental inheritance. These two inheritance processes together can produce familial covariances significantly higher than those predicted by models of purely epigenetic inheritance and similar to those expected from genetic effects. The results suggest that epigenetic variation, inherited both directly and through shared environmental effects, may make a key contribution to the missing heritability. 相似文献
8.
Dana L. Duren Maja Seselj Andrew W. Froehle Ramzi W. Nahhas Richard J. Sherwood 《American journal of physical anthropology》2013,150(1):48-57
Growth, development, and decline of the human skeleton are of central importance to physical anthropology. All processes of skeletal growth (longitudinal growth as well as gains and losses of bone mass) are subjected to environmental and genetic influences. These influences, and their relative contributions to the phenotype, can be asserted at any stage of life. We present here the gross phenotypic and genetic landscapes of four skeletal traits, and show how they vary across the life span. Phenotypic sex differences are found in bone diameter and cortical index (a ratio of cortical thickness over bone diameter) at a very early age and continue throughout most of life. Sexual dimorphism in summed cortical thickness and bone length, however, is not evident until shortly after the pubertal growth spurt. Genetic contributions (heritability) to these skeletal phenotypes are generally moderate to high. Bone length and bone diameter (which both scale with body size) tend to have the highest heritability, with heritability of bone length fairly stable across ages (with a notable dip in early childhood) and that of bone diameter peaking in early childhood. The bone traits summed cortical thickness and cortical index that may better reflect bone mass, a more plastic phenomenon, have slightly lower genetic influences, on average. Results from our phenotypic and genetic landscapes serve three key purposes: 1) demonstration of the integrated nature of the genetic and environmental underpinnings of skeletal form, 2) identification of periods of bone's relative sensitivity to genetic and environmental influences, 3) and stimulation of hypotheses predicting the effects of exposure to environmental variables on the skeleton, given variation in the underlying genetic architecture. Am J Phys Anthropol, 2013. © 2012 Wiley Periodicals, Inc. 相似文献
9.
We present a review of the history of scientific inquiry into modern human origins, focusing on the role of the American Anthropologist . We begin during the mid–20th century, at the time when the problem of modern human origins was first presented in the American Anthropologist and could first be distinguished from more general questions about human and hominid origins. Next, we discuss the effects of the modern evolutionary synthesis on biological anthropology and paleoanthropology in particular, and its role in the origin of anthropological genetics. The rise of human genetics is discussed along two tracks, which have taken starkly different approaches to the historical interpretation of recent human diversity. We cover varying paleoanthropological interpretations, including paleoanthropologists' reactions to genetic interpretations. We hope to identify some of the crucial inflection points in which the debate went astray, to rectify some of the points of misunderstanding among current scientists, and to clarify the likely path ahead. [Keywords: multiregional evolution, recent African origin, bottleneck, polygenism, race] 相似文献
10.
台湾太鲁阁(Truku)族群肤纹学研究 总被引:1,自引:1,他引:0
本文报道台湾太鲁阁(Truku)的肤纹参数, 样本包括100名男性和100名女性。研究方法以《ADA标准-CDA版本》为依据、项目以《CDA标准》的Ⅱ级模式样本为依据。还有atd、tPD、猿线、指三角、同名指指纹对应的情况等, 见到非随机组合的现象。这是首次对太鲁阁人肤纹作Ⅱ级模式样本的调查, 为医学、遗传学和人类学等提供Ⅱ级模式样本。肤纹是人类的生物学性状, 由遗传和环境所致。指纹花样有每人每指各不相同和终身稳定两大特点, 成为个人身份鉴定的证明。肤纹在群体间有特异性, 在民族间有明显的差异。研究群体或民族的肤纹, 可以发现人类肤纹的遗传标记。 相似文献
11.
Anders Stenberg 《Economics & Human Biology》2013,11(2):201-205
While most outcomes may in part be genetically mediated, quantifying genetic heritability is a different matter. To explore data on twins and decompose the variation is a classical method to determine whether variation in outcomes, e.g. IQ or schooling, originate from genetic endowments or environmental factors. Despite some criticism, the model is still widely used. The critique is generally related to how estimates of heritability may encompass environmental mediation. This aspect is sometimes left implicit by authors even though its relevance for the interpretation is potentially profound. This short note is an appeal for clarity from authors when interpreting the magnitude of heritability estimates. It is demonstrated how disregarding existing theoretical contributions can easily lead to unnecessary misinterpretations and/or controversies. The key arguments are relevant also for estimates based on data of adopted children or from modern molecular genetics research. 相似文献
12.
Marianne Sommer 《Journal of the history of biology》2008,41(3):473-528
In the advertising discourse of human genetic database projects, of genetic ancestry tracing companies, and in popular books on anthropological genetics, what I refer to as the anthropological gene and genome appear as documents of human history, by far surpassing the written record and oral history in scope and accuracy as archives of our past. How did macromolecules become “documents of human evolutionary history”? Historically, molecular anthropology, a term introduced by Emile Zuckerkandl in 1962 to characterize the study of primate phylogeny and human evolution on the molecular level, asserted its claim to the privilege of interpretation regarding hominoid, hominid, and human phylogeny and evolution vis-à-vis other historical sciences such as evolutionary biology, physical anthropology, and paleoanthropology. This process will be discussed on the basis of three key conferences on primate classification and evolution that brought together exponents of the respective fields and that were held in approximately ten-years intervals between the early 1960s and the 1980s. I show how the anthropological gene and genome gained their status as the most fundamental, clean, and direct records of historical information, and how the prioritizing of these epistemic objects was part of a complex involving the objectivity of numbers, logic, and mathematics, the objectivity of machines and instruments, and the objectivity seen to reside in the epistemic objects themselves. 相似文献
13.
Sarcopenia, which is characterized by a progressive decrease of skeletal muscle mass and function with aging, is closely related
to several common diseases (such as cardiovascular and airway diseases) and functional impairment/disability. Strong genetic
determination has been reported for muscle mass and muscle strength, two most commonly recognized and studied risk phenotypes
for sarcopenia, with heritability ranging from 30 to 85% for muscle strength and 45–90% for muscle mass. Sarcopenia has been
the subject of increasing genetic research over the past decade. This review is designed to comprehensively summarize the
most important and representative molecular genetic studies designed to identify genetic factors associated with sarcopenia.
We have methodically reviewed whole-genome linkage studies in humans, quantitative trait loci mapping in animal models, candidate
gene association studies, newly reported genome-wide association studies, DNA microarrays and microRNA studies of sarcopenia
or related skeletal muscle phenotypes. The major results of each study are tabulated for easy comparison and reference. The
findings of representative studies are discussed with respect to their influence on our present understanding of the genetics
of sarcopenia. This is a comprehensive review of molecular genetic studies of gene identification for sarcopenia, and an overarching
theme for this review is that the currently accumulating results are tentative and occasionally inconsistent and should be
interpreted with caution pending further investigation. Consequently, this overview should enhance recognition of the need
to validate/replicate the genetic variants underlying sarcopenia in large human cohorts and animal. We believe that further
progress in understanding the genetic etiology of sarcopenia will provide valuable insights into important fundamental biological
mechanisms underlying muscle physiology that will ultimately lead to improved ability to recognize individuals at risk for
developing sarcopenia and our ability to treat this debilitating condition. 相似文献
14.
Lyle W. Konigsberg Susan R. Frankenberg Helen M. Liversidge 《American journal of physical anthropology》2016,159(4):557-576
What are the effects that genetics has had on Anthropological research and how can we think anthropologically about Genetics? Just as genetic data have encouraged new hypotheses about human phenotypic variation, evolutionary history, population interaction, and environmental effects, so too has Anthropology offered to genetic studies a new interpretive locus in its history and perspective. This introduction examines how the fields of Anthropology and Genetics have arrived at a crucial moment at which their interaction requires careful examination and critical reflection. The papers discussed here exemplify how we may engage in such a trans-disciplinary conversation. They speak to the future of thoughtful interaction between genetic and anthropological literature and seek a new integration that embodies the holism of the human biological sciences. 相似文献
15.
Rudan P Janićijević B Jovanović V Milicić J Narancić NS Sujoldzić A Szirovicza L Skarić-Jurić T Lauc LB Lauc T Klarić IM Pericić M Rudan D Rudan I 《Collegium antropologicum》2004,28(Z2):321-343
The complexity of interactions between hereditary, environmental and cultural factors in determining human phenotypes is often underestimated in biomedical research. In this paper, we present 33 years of holistic anthropological research that was being conducted since 1971 in the island of Hvar, Croatia. During this period, detailed characterization of migrations, demography, isonymy, linguistic differences, anthropometric traits (head and body dimensions), physiological (cardio-respiratory) properties, quantitative and qualitative dermatoglyphic traits, radiogrammetric metacarpal bone dimensions and genetic traits (classical antigens, HLA diversity, DNA short tandem repeat -STR, mitochondrial DNA and Y-chromosome polymorphisms) was performed. The analysis of this large collection of data using both model-bound and model-free approaches showed that the complexity underlying human biological traits may be considerably greater than generally assumed, which has important implications for design of future studies into genetic determinants of complex traits. 相似文献
16.
Mark James Adams 《International journal of primatology》2014,35(1):156-168
The analysis of phenotypic covariances among genetically related individuals is the basis for estimations of genetic and phenotypic effects on phenotypes. Beyond heritability, there are several other estimates that can be made with behavior genetic models of interest to primatologists. Some of these estimates are feasible with primate samples because they take advantage of the types of relatives available to compare in primate species and because most behaviors are expressed orders of magnitude more often and in a greater variety of contexts than morphological or life-history traits. The hypotheses that can be tested with these estimates are contrasted with hypotheses that will be difficult to achieve in primates because of sample size limitations. Feasible comparisons include the proportion of variance from interaction effects, the variation of genetic effects across environments, and the genetics of growth and development. Simulation shows that uncertainty of genetic parameters can be reduced by sampling each individual more than once. Because sample sizes are likely to remain relatively small in most primate behavior genetics, expressing uncertainty in parameter estimates is needed to move our inferences forward. 相似文献
17.
The information content of signals such as animal coloration depends on the extent to which variation reflects underlying biological processes. Although animal coloration has received considerable attention, little work has addressed the quantitative genetics of color variation in natural populations. We investigated the quantitative genetics of a carotenoid-based color patch, the ventral plumage of mature great tits (Parus major), in a wild population. Carotenoid-based colors are often suggested to reflect environmental variation in carotenoid availability, but numerous mechanisms could also lead to genetic variation in coloration. Analyses of individuals of known origin showed that, although plumage chromaticity (i.e., color) was moderately heritable, there was no significant heritability to achromaticity (i.e., brightness). We detected multiple long-lasting effects of natal environment, with hatching date and brood size both negatively related to plumage chromaticity at maturity. Our reflectance measures contrasted in their spatiotemporal sensitivity, with plumage chromaticity exhibiting significant spatial variation and achromatic variation exhibiting marked annual variation. Hence, color variation in this species reflects both genetic and environmental influences on different scales. Our analyses demonstrate the context dependence of components of color variation and suggest that color patches may convey multiple aspects of individual state. 相似文献
18.
Molly Scannell Bryan Maria Argos Brandon Pierce Lin Tong Muhammad Rakibuz-Zaman Alauddin Ahmed Mahfuzar Rahman Tariqul Islam Muhammad Yunus Faruque Parvez Shantanu Roy Farzana Jasmine John A. Baron Muhammad G. Kibriya Habibul Ahsan 《PloS one》2014,9(8)
Many health outcomes are influenced by a person''s body mass index, as well as by the trajectory of body mass index through a lifetime. Although previous research has established that body mass index related traits are influenced by genetics, the relationship between these traits and genetics has not been well characterized in people of South Asian ancestry. To begin to characterize this relationship, we analyzed the association between common genetic variation and five phenotypes related to body mass index in a population-based sample of 5,354 Bangladeshi adults. We discovered a significant association between SNV rs347313 (intron of NOS1AP) and change in body mass index in women over two years. In a linear mixed-model, the G allele was associated with an increase of 0.25 kg/m2 in body mass index over two years (p-value of 2.3·10−8). We also estimated the heritability of these phenotypes from our genotype data. We found significant estimates of heritability for all of the body mass index-related phenotypes. Our study evaluated the genetic determinants of body mass index related phenotypes for the first time in South Asians. The results suggest that these phenotypes are heritable and some of this heritability is driven by variation that differs from those previously reported. We also provide evidence that the genetic etiology of body mass index related traits may differ by ancestry, sex, and environment, and consequently that these factors should be considered when assessing the genetic determinants of the risk of body mass index-related disease. 相似文献
19.
Qihua Tan Kirsten Ohm Kyvik Torben A. Kruse Kaare Christensen 《Functional & integrative genomics》2010,10(3):321-327
Genetics in the post-genomic period is shifting from structural to functional genetics or genomics. Meanwhile, the use of
twins is largely expanding from traditional heritability estimation for disease phenotypes to the study of both diseases and
various molecular phenotypes, such as the regulatory phenotypes in functional genomics concerning gene expression and regulation,
by engaging both classical twin design and marker-based gene mapping techniques in genetic epidemiology. New research designs
have been proposed for making novel uses of twins in studying the molecular basis in the epigenetics of human diseases. Besides,
twins not only serve as ideal samples for disease gene mapping using conventional genetic markers but also represent an excellent
model for associating DNA copy number variations, a structural genetic marker, with human diseases. It is believed that, with
the rapid development in biotechniques and new advances in bioinformatics, the unique samples of twins will make new contributions
to our understanding of the nature and nurture in complex disease development and in human health. This paper aims at summarizing
the new uses of twins in current genetic studies and suggesting novel proposes together with useful design and analytical
strategies. 相似文献
20.
Missing heritability of complex diseases: Enlightenment by genetic variants from intermediate phenotypes
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Lourdes Hontecillas‐Prieto Jian Hua Mao Jesus Pérez‐Losada 《BioEssays : news and reviews in molecular, cellular and developmental biology》2016,38(7):664-673
Diseases of complex origin have a component of quantitative genetics that contributes to their susceptibility and phenotypic variability. However, after several studies, a major part of the genetic component of complex phenotypes has still not been found, a situation known as “missing heritability.” Although there have been many hypotheses put forward to explain the reasons for the missing heritability, its definitive causes remain unknown. Complex diseases are caused by multiple intermediate phenotypes involved in their pathogenesis and, very often, each one of these intermediate phenotypes also has a component of quantitative inheritance. Here we propose that at least part of the missing heritability can be explained by the genetic component of intermediate phenotypes that is not detectable at the level of the main complex trait. At the same time, the identification of the genetic component of intermediate phenotypes provides an opportunity to identify part of the missing heritability of complex diseases. 相似文献