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Biomedical subjects

E B Kaplan

Publications and source records attributed to E B Kaplan.

At least 37 records · Page 2Linked to original sources
PubMed1984

The Collaborative Lipid Research Clinics Program Family Study. II. Response rates, representativeness of the sample, and stability of lipid and lipoprotein levels.

The Collaborative Family Study (1975-1978), the third phase of the Lipid Research Clinics Program Population Studies, covers 2405 probands and 15,693 of their relatives from nine North American communities. This sample was examined for participation differences across race, sex, locality, educational level, and reason for selection. The participation rates were somewhat lower for blacks, younger age groups, and subjects with lower educational levels. The probands' reason for selection into the study had little impact on the participation of probands or relatives. Moreover, based on information gathered at earlier examinations on eligible Family Study probands, the cornary risk factor profile appeared to be similar among participants and nonparticipants . The available longitudinal lipid data on probands indicated general consistency in lipid levels within subjects over short periods of time, in cholesterol even more so than in triglycerides. Among age strata, the younger subjects showed the least intrapersonal stability, especially for triglycerides.

Adolescent↗
PubMed1984

The Collaborative Lipid Research Clinics Program Family Study. III. Transformations and covariate adjustments of lipid and lipoprotein levels.

Several methods of transformation and covariate adjustment have been applied to the Collaborative Lipid Research Clinics Program Family Study data to facilitate analysis of lipid levels of examinees of different sex and age groups. After several exploratory analyses, cholesterol, high density lipoprotein cholesterol, and low density lipoprotein cholesterol were logarithmically transformed, and triglycerides were transformed by the power -0.25. Two types of covariate adjustment procedures, the regression and Z score methods, were used. A modified regression method was developed and was found to be preferable to both simple cubic regression and the Z score method on theoretical and empirical grounds. Refinements in this method to correct for change in variance with age, and for the effect of socioeconomic status, seasonality, and anthropometric measures were made. Methodological issues connected with the transformation and adjustment procedures are discussed.

Adolescent↗
PubMed1984

The Collaborative Lipid Research Clinics Program Family Study. IV. Familial associations of plasma lipids and lipoproteins.

Familial associations of total cholesterol, low density lipoprotein cholesterol, triglycerides, and very low density lipoprotein cholesterol were examined in a population-based random sample of 858 white and 73 black probands and their 4,027 white and 245 black relatives from nine North American Lipid Research Clinics. Correlations among biologic relatives were highly significant for total cholesterol and low density lipoprotein cholesterol and to a lesser extent for triglycerides and very low density lipoprotein cholesterol in whites. Correlations for spouses, however, were not significant, suggesting a stronger influence of genes than shared environment in the determination of these traits. Homogeneity of familial correlations across age strata, clinics, and racial groups was examined. In general, correlations were homogeneous across age strata and clinics, and there was no asymmetry in parent-offspring correlations by the sex of the parent or offspring. Racial differences in correlations were not significant except in four of 32 comparisons, with blacks showing weaker correlations than whites in those instances.

Adolescent↗
PubMed1982

A five-generation family with sacral agenesis and spina bifida: possible similarities with the mouse T-locus.

In man, a malformation that recalls some of the defects associated with T/t mutants in the mouse is sacral agenesis. We report on a family with a high incidence of sacral malformation, ranging from a complete absence of the sacrum (SA), with or without spina bifida aperta, to a spina bifida occulta (SBO) that could only be detected by x-ray. The condition appeared in a man with four children who were all affect, and thereafter, to varying degrees, in 17 of his 28 descendants. Segregation analysis has been performed in this family, using the Elston and Stewart transmission probability model [1971]. The two traits (SA and SBO) were first studied separated and then together. A fully penetrant major dominant gene is show to cause SA. When the phenotypes SA and SBO are considered together, Mendelian transmission is rejected. This could be explained genetically by two alternative hypotheses: genetic heterogeneity or a dominant major gene transmitted in excess by heterozygotes (tau Aa A = 0.896), suggesting a segregation distortion property of an allele at a T-like locus.

Adult↗
PubMed1981

Segregation analysis of congenital glaucoma: approach by two differential models.

To determine the mode of inheritance of congenital glaucoma, segregation analysis was performed using two different models: the transmission probability model and the mixed model. Whereas the latter, testing for monogenic inheritance in the presence of both monogenic and polygenic components, results in strong evidence for a major locus, the former, testing for Mendelian segregation at one locus, rejects this hypothesis. The differences in the results of these two models are discussed and are attributed to the underlying structure of each. Genetic heterogeneity of congenital glucoma is proposed.

Female↗
PubMed1978

Efficiency and robustness of pedigree segregation analysis.

Different pedigree structures and likelihoods are examined to determine their efficiency for parameter estimation under one-locus models. For the cases simulated, family size has little effect; estimates based on unconditional likelihoods are generally more efficient than those based on conditional likelihoods. The proposed method of pedigree analysis under a one-locus model is found to be robust in the analysis of nuclear families: skewness of the data and polygenic inheritance will not lead to the spurious detection of major loci unless they occur simultaneously, and together with a moderate amount of environmental correlation among sibs.

Gene Frequency↗