Testing of single locus hypotheses where there is incomplete separation of the phenotypes.
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Biomedical subjects
Publications and source records attributed to E A Murphy.
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The influence of cigarette smoking on platelet aggregation was studied in habitual and non-habitual smokers. The results indicate that habitual smokers have a greater tendency to platelet aggregation than do non-habitual smokers. Acute effects of cigarette smoking were, however, not significant. The nucleotide content and the serotonin content of the platelets were analyzed. The adenosine nucleotide and serotonin contents were similar in smokers and non-smokers in the control state and neither showed significant changes on cigarette smoking. There were significant correlations between the control concentrations of the various nucleotides in both groups and there were even higher correlations after smoking. Platelet aggregation bore no demonstrable relationship to the nucleotide or serotonin contents of the platelet. We conclude that the long-term effect of smoking is probably more important than the acute effect.
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Epidemiologic studies of environmental factors associated with risk of Alzheimer's disease (AD) have produced inconsistent and disappointing results. By contrast, family/genetic studies and case control investigations suggest that genetic causes of AD are important. The investigation of such genetic causes remains an important aim in all forms of AD including typical, late-onset disease where linkage work is impractical. But the public health burden of AD creates an especially urgent need to identify environment risk factors, if these exist, since they will more likely be susceptible to intervention. Such environmental factors may interact with genetic susceptibility to accelerate or retard disease expression, and environmental interventions that delay onset may constitute an important strategy for prevention. All these issues may be addressed by twin studies of AD, but the few such studies to date have been limited by small samples and other methodologic difficulties. This paper reviews the rationale for twin studies of AD, and describes briefly the work in this area to date. It also discusses a number of suggestions for methodologic improvements. We conclude that the time is ripe for twin studies of AD, and that such work holds considerable potential for the investigation of etiology and, possibly, for the identification of strategies for prevention.
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