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Karger Kompass
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     ISSN (Print) 2296-0368 - ISSN (Online) 2296-0317
     Published by Karger Homepage  [104 journals]
  • Admixture and Clinical Phenotypic Variation
    • Abstract: All human populations exhibit some level of genetic differentiation. This differentiation, or population stratification, has many interacting sources, including historical migrations, population isolation over time, genetic drift, and selection and adaptation. If differentiated populations remained isolated from each other over a long period of time such that there is no mating of individuals between those populations, then some level of global consanguinity within those populations will lead to the formation of gene pools that will become more and more distinct over time. Global genetic differentiation of this sort can lead to overt phenotypic differences between populations if phenotypically relevant variants either arise uniquely within those populations or begin to exhibit frequency differences across the populations. This can occur at the single variant level for monogenic phenotypes or at the level of aggregate variant frequency differences across the many loci that contribute to a phenotype with a multifactorial or polygenic basis. However, if individuals begin to interbreed (or ‘admix') from populations with different frequencies of phenotypically relevant genetic variants, then these admixed individuals will exhibit the phenotype to varying degrees. The level of phenotypic expression will depend on the degree to which the admixed individuals have inherited causative variants that have descended from the ancestral population in which those variants were present (or, more likely, simply more frequent). We review studies that consider the association between the degree of admixture (or ancestry) and phenotypes of clinical relevance. We find a great deal of literature-based evidence for associations between the degree of admixture and phenotypic variation for a number of admixed populations and phenotypes, although not all this evidence is confirmatory. We also consider the implications of such associations for gene-mapping initiatives as well as general clinical epidemiology studies and medical practice. We end with some thoughts on the future of studies exploring phenotypic differences among admixed individuals as well as individuals with different ancestral backgrounds. © 2014 S. Karger AG, Basel
      Hum Hered 2014;77:73-86
       
  • Consanguinity and Genomics
    • Abstract:
      Hum Hered 2014;77:5
       
  • Consanguinity in the Contemporary World
    • Abstract:
      Hum Hered 2014;77:6-9
       
  • The Effect of Consanguinity on Neonatal Outcomes and Health
    • Abstract: Consanguineous marriages constitute a significant fraction of marriages worldwide and confer a major public health concern on newborns. In addition to the risk of acquiring a recessive genetic disease, the offspring of consanguineous parents are plausibly at an increased risk of preterm birth, decreased anthropometric measurements, congenital defects and mortality. How consanguinity confers such an increased risk is still largely unknown. In this review, we discuss the effect of consanguinity on selected gestational outcomes by delineating the different studies that have led to such findings. We also investigate the different conclusions that have emerged regarding the effect of consanguinity on gestational outcomes. © 2014 S. Karger AG, Basel
      Hum Hered 2014;77:87-92
       
  • Inbreeding Coefficient Estimation with Dense SNP Data: Comparison of
           Strategies and Application to HapMap III
    • Abstract: Background/Aims: If the parents of an individual are related, it is possible for the individual to have received at 1 locus 2 identical-by-descent alleles that are copies of a single allele carried by the parents' common ancestor. The inbreeding coefficient measures the probability of this event and increases with increasing relatedness between the parents. It is traditionally computed from the observed inbreeding loops in the genealogies and its accuracy thus depends on the depth and reliability of the genealogies. With the availability of genome-wide genetic data, it has become possible to compute a genome-based inbreeding coefficient f, and different methods have been developed to estimate f and identify inbred individuals in a sample from the observed patterns of homozygosity at markers. Methods: For this paper, we performed simulations with known genealogies using different SNP panels with different levels of linkage disequilibrium (LD) to compare several estimators of f, including single-point estimates, methods based on the length of runs of homozygosity (ROHs) and different methods that use hidden Markov models (HMMs). We also compared the performances of some of these estimators to identify inbred individuals in a sample using either HMM likelihood ratio tests or an adapted version of the ERSA software. Results: Single-point methods were found to have higher standard deviations than other methods. ROHs gave the best estimates provided the correct length threshold is known. HMMs on sparse data gave equivalent or better results than HMMs modeling LD. Provided LD is correctly accounted for, the inbreeding estimates were very similar using the different SNP panels. The HMM likelihood ratio tests were found to perform better at detecting inbred individuals in a sample than the adapted ERSA. All methods accurately detected inbreeding up to second-cousin offspring. We applied the best method on release 3 of the HapMap phase III project, found up to 4% of inbred individuals, and created HAP1067, an unrelated and outbred dataset of this release. Conclusions: We recommend using HMMs on multiple sparse maps to estimate and detect inbreeding in large samples. If the sample of individuals is too small to estimate allele frequencies, we advise to estimate them on reference panels or to use 1,500-kb ROHs. Finally, we suggest to investigators using HapMap to be careful with inbred individuals, especially in the GIH (Gujarati Indians from Houston in Texas) population. © 2014 S. Karger AG, Basel
      Hum Hered 2014;77:49-62
       
  • Consanguineous Marriage, Reproductive Behaviour and Postnatal Mortality in
           Contemporary Iran
    • Abstract: Objectives: The aims of the study were to determine the prevalence, types and socio-economic correlates of consanguineous marriages in Iran, and to gauge the extent to which consanguinity influenced fertility, pregnancy outcomes and the expression of genetic disorders in the present-day population. Methods: Data on the prevalence of consanguinity and birth outcomes in the first marriages of 5,515 women were abstracted from the 2005 Iran Low Fertility Study [Hosseini-Chavoshi et al: Fertility and Contraceptive Use Dynamics in Iran: Special Focus on Low Fertility Regions. Canberra, Australian National University, 2007]. The results of associated socio-economic variables were collated and assessed by Pearson's χ2 analysis and logistic regression. Results: Overall, 37.4% of the marriages were consanguineous (α = 0.0149), but with major differences between 4 representative populations. Consanguinity was higher among rural couples, older marriage cohorts, women marrying at a younger age, and women with lower levels of formal education. In general, consanguineous couples had higher mean numbers of pregnancies, live births and surviving children. Conclusions: Given declining family sizes, a rapid urbanization and increased educational and employment opportunities, it seems inevitable that consanguineous marriages will decline in prevalence in Iran, albeit more slowly in more traditional rural communities. Predictably, there will be a concomitant reduction in the incidence of recessive genetic disorders, but this is against a background transition from communicable to non-communicable diseases. © 2014 S. Karger AG, Basel
      Hum Hered 2014;77:16-25
       
  • Drivers of Cousin Marriage among British Pakistanis
    • Abstract: Background/Aim: Why has the apparently high rate of cousin marriage among Bradford Pakistanis been sustained, 50 years since Pakistani migration to Britain began' Methods: A review of the anthropological literature on Pakistani migration and settlement, British Pakistani marriage patterns and the phenomenon of transnational marriage. Results: British Pakistanis are diverse in regional origins and social class characteristics, with many Bradford Pakistanis originating from the Mirpur district and northern Punjab. British Pakistani marriages often involve a partner from Pakistan who joins a spouse in the UK. Transnational marriage of first cousins offers relatives in Pakistan opportunities for a ‘better' life in the West and are important for British Pakistanis for economic, social, cultural and emotional reasons. These processes are also differentially influenced by region of origin and class characteristics in Pakistan as well as by education, employment and locality in Britain. The pattern observed in Bradford may not be applicable nationally. Conclusion: Further research examining marital decisions over several generations in families differing by social class, region of origin in Pakistan and locality in Britain is necessary to contextualise the findings from Bradford. © 2014 S. Karger AG, Basel
      Hum Hered 2014;77:26-36
       
  • Marriage Patterns and Reproductive Decision-Making in the Inhabitants of a
           Single Muslim Village during a 50-Year Period
    • Abstract: Objectives: In a single Muslim village in Israel, established about 300 years ago by a small number of founders, a longitudinal study was conducted on the types of marriages and their effects on family planning, with the age at which a woman had her first child and the size of the family assessed. Methods: The information for the analysis was extracted from a detailed database including individuals residing in and originating from the village. Results: A shift from the practice of marrying a close relative, in particular patrilateral parallel first-cousin marriages, to marrying a more remotely related individual was observed during the study period. Another major change was a significant reduction in the mean number of children born per woman from 8.7 among women born between 1930 and 1939 to 4.7 among those born between 1960 and 1969. In families in which the parents were biological relatives, the number of children was always higher than in families in which the parents were unrelated. The mean age of the mother at the birth of her first child progressively increased during the study period from 20.9 to 23.7 years. The maternal age was always higher when the spouses were from different villages than when they were biological relatives, either being first cousins or more distantly related. Conclusions: Significant sociodemographic changes were observed during the course of the last 50 years. However, the consequences of the long-lasting isolation of the population remain and still exert an important effect on present-day medical problems in the village. © 2014 S. Karger AG, Basel
      Hum Hered 2014;77:10-15
       
  • Effect of Intravitreal Bevacizumab Injection before Ahmed Glaucoma Valve
           Implantation in Neovascular Glaucoma
    • Abstract: Ophthalmologica 2013;229:94–100
       
  • Long-Term Outcome of Polymyositis Treated with High Single-Dose
           Alternate-Day Prednisolone Therapy
    • Abstract: Eur Neurol 2012;68:117–121
       
 
 
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