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PubMed1998

A discordant-sibship test for disequilibrium and linkage: no need for parental data.

The sibship disequilibrium test (SDT) is designed to detect both linkage in the presence of association and association in the presence of linkage (linkage disequilibrium). The test does not require parental data but requires discordant sibships with at least one affected and one unaffected sibling. The SDT has many desirable properties: it uses all the siblings in the sibship; it remains valid if there are misclassifications of the affectation status; it does not detect spurious associations due to population stratification; asymptotically it has a chi2 distribution under the null hypothesis; and exact P values can be easily computed for a biallelic marker. We show how to extend the SDT to markers with multiple alleles and how to combine families with parents and data from discordant sibships. We discuss the power of the test by presenting sample-size calculations involving a complex disease model, and we present formulas for the asymptotic relative efficiency (which is approximately the ratio of sample sizes) between SDT and the transmission/disequilibrium test (TDT) for special family structures. For sib pairs, we compare the SDT to a test proposed both by Curtis and, independently, by Spielman and Ewens. We show that, for discordant sib pairs, the SDT has good power for testing linkage disequilibrium relative both to Curtis's tests and to the TDT using trios comprising an affected sib and its parents. With additional sibs, we show that the SDT can be more powerful than the TDT for testing linkage disequilibrium, especially for disease prevalence >.3.

Alleles↗
PubMed2000

Removing the sampling restrictions from family-based tests of association for a quantitative-trait locus.

One strategy for localization of a quantitative-trait locus (QTL) is to test whether the distribution of a quantitative trait depends on the number of copies of a specific genetic-marker allele that an individual possesses. This approach tests for association between alleles at the marker and the QTL, and it assumes that association is a consequence of the marker being physically close to the QTL. However, problems can occur when data are not from a homogeneous population, since associations can arise irrespective of a genetic marker being in physical proximity to the QTL-that is, no information is gained regarding localization. Methods to address this problem have recently been proposed. These proposed methods use family data for indirect stratification of a population, thereby removing the effect of associations that are due to unknown population substructure. They are, however, restricted in terms of the number of children per family that can be used in the analysis. Here we introduce tests that can be used on family data with parent and child genotypes, with child genotypes only, or with a combination of these types of families, without size restrictions. Furthermore, equations that allow one to determine the sample size needed to achieve desired power are derived. By means of simulation, we demonstrate that the existing tests have an elevated false-positive rate when the size restrictions are not followed and that a good deal of information is lost as a result of adherence to the size restrictions. Finally, we introduce permutation procedures that are recommended for small samples but that can also be used for extensions of the tests to multiallelic markers and to the simultaneous use of more than one marker.

Alleles↗
PubMed2000

QTL fine mapping by measuring and testing for Hardy-Weinberg and linkage disequilibrium at a series of linked marker loci in extreme samples of populations.

It has recently been demonstrated that fine-scale mapping of a susceptibility locus for a complex disease can be accomplished on the basis of deviations from Hardy-Weinberg (HW) equilibrium at closely linked marker loci among affected individuals. We extend this theory to fine-scale localization of a quantitative-trait locus (QTL) from extreme individuals in populations, by means of HW and linkage-disequilibrium (LD) analyses. QTL mapping and/or linkage analyses can establish a large genomic region ( approximately 30 cM) that contains a QTL. The QTL can be fine mapped by examination of the degree of deviation from HW and LD at a series of closely linked marker loci. The tests can be performed for samples of individuals belonging to either high or low percentiles of the phenotype distribution or for combined samples of these extreme individuals. The statistical properties (the power and the size) of the tests of this fine-mapping approach are investigated and are compared extensively, under various genetic models and parameters for the QTL and marker loci. On the basis of the results, a two-stage procedure that uses extreme samples and different tests (for HW and LD) is suggested for QTL fine mapping. This two-step procedure is economic and powerful and can accurately narrow a genomic region containing a QTL from approximately 30-1 cM, a range that renders physical mapping feasible for identification of the QTL. In addition, the relationship between parameterizations of complex diseases, by means of penetrance, and those of complex quantitative traits, by means of genotypic values, is outlined. This means that many statistical genetic methods developed for searching for susceptibility loci of complex diseases can be directly adopted and/or extended to QTL mapping for quantitative traits.

Alleles↗
PubMed2000

A test for linkage and association in general pedigrees: the pedigree disequilibrium test.

Family-based tests of linkage disequilibrium typically are based on nuclear-family data including affected individuals and their parents or their unaffected siblings. A limitation of such tests is that they generally are not valid tests of association when data from related nuclear families from larger pedigrees are used. Standard methods require selection of a single nuclear family from any extended pedigrees when testing for linkage disequilibrium. Often data are available for larger pedigrees, and it would be desirable to have a valid test of linkage disequilibrium that can use all potentially informative data. In this study, we present the pedigree disequilibrium test (PDT) for analysis of linkage disequilibrium in general pedigrees. The PDT can use data from related nuclear families from extended pedigrees and is valid even when there is population substructure. Using computer simulations, we demonstrated validity of the test when the asymptotic distribution is used to assess the significance, and examined statistical power. Power simulations demonstrate that, when extended pedigree data are available, substantial gains in power can be attained by use of the PDT rather than existing methods that use only a subset of the data. Furthermore, the PDT remains more powerful even when there is misclassification of unaffected individuals. Our simulations suggest that there may be advantages to using the PDT even if the data consist of independent families without extended family information. Thus, the PDT provides a general test of linkage disequilibrium that can be widely applied to different data structures.

Alleles↗
PubMed1998

The significance of non-significance.

We discuss the implications of empirical results that are statistically non-significant. Figures illustrate the interrelations among effect size, sample sizes and their dispersion, and the power of the experiment. All calculations (detailed in Appendix) are based on actual noncentral t-distributions, with no simplifying mathematical or statistical assumptions, and the contribution of each tail is determined separately. We emphasize the importance of reporting, wherever possible, the a priori power of a study so that the reader can see what the chances were of rejecting a null hypothesis that was false. As a practical alternative, we propose that non-significant inference be qualified by an estimate of the sample size that would be required in a subsequent experiment in order to attain an acceptable level of power under the assumption that the observed effect size in the sample is the same as the true effect size in the population; appropriate plots are provided for a power of 0.8. We also point out that successive outcomes of independent experiments each of which may not be statistically significant on its own, can be easily combined to give an overall p value that often turns out to be significant. And finally, in the event that the p value is high and the power sufficient, a non-significant result may stand and be published as such.

Analysis of Variance↗
PubMed1999

Statistical power of MRI monitored trials in multiple sclerosis: new data and comparison with previous results.

OBJECTIVES: To evaluate the durations of the follow up and the reference population sizes needed to achieve optimal and stable statistical powers for two period cross over and parallel group design clinical trials in multiple sclerosis, when using the numbers of new enhancing lesions and the numbers of active scans as end point variables. METHODS: The statistical power was calculated by means of computer simulations performed using MRI data obtained from 65 untreated relapsing-remitting or secondary progressive patients who were scanned monthly for 9 months. The statistical power was calculated for follow up durations of 2, 3, 6, and 9 months and for sample sizes of 40-100 patients for parallel group and of 20-80 patients for two period cross over design studies. The stability of the estimated powers was evaluated by applying the same procedure on random subsets of the original data. RESULTS: When using the number of new enhancing lesions as the end point, the statistical power increased for all the simulated treatment effects with the duration of the follow up until 3 months for the parallel group design and until 6 months for the two period cross over design. Using the number of active scans as the end point, the statistical power steadily increased until 6 months for the parallel group design and until 9 months for the two period cross over design. The power estimates in the present sample and the comparisons of these results with those obtained by previous studies with smaller patient cohorts suggest that statistical power is significantly overestimated when the size of the reference data set decreases for parallel group design studies or the duration of the follow up decreases for two period cross over studies. CONCLUSIONS: These results should be used to determine the duration of the follow up and the sample size needed when planning MRI monitored clinical trials in multiple sclerosis.

Adolescent↗
PubMed2000

Examination of hemolytic potential with the On-X(R) prosthetic heart valve.

BACKGROUND AND AIM OF THE STUDY: Mechanical valves are known to produce chronic, subclinical hemolysis in most patients. Generally, haptoglobin is reduced to below normal in most patients, while lactate dehydrogenase (LDH) is increased to as much as 200% above the upper normal, sometimes resulting in anemia. The study was designed to investigate the clinical hemolysis of the On-X(R) prosthetic heart valve in a multicenter experience with a standard protocol and a single clinical laboratory. METHODS: Between September 1996 and August 1998, 248 patients underwent isolated valve replacement at 10 European centers. Blood samples were collected from these preoperatively and at 3-6 months and one year postoperatively. All samples were analyzed at a central laboratory, thus assuring poolability of the data. In total, 151 patients were tested at 3-6 months, and 62 at one year. Blood parameters measured were LDH, haptoglobin, hematocrit, total hemoglobin, red cell count and reticulocyte count. Paired analysis was used to compare preoperative baseline values with 3-6-month and one-year values. Data were analyzed with regard to both valve position and size. RESULTS: At 3-6 months and one year after surgery, average values for hematocrit, hemoglobin, red cell count and reticulocyte count were all near the center of the normal range, regardless of valve position or size. Statistically significant increases in red cell count and decreases in reticulocyte count occurred after both aortic valve replacement (AVR) and mitral valve replacement (MVR). These changes were of no clinical importance, but indicate that anemia has not occurred in these patients. At 3-6 months, haptoglobin was reduced to below normal in 86% of both AVR and MVR patients; this also occurred after one year and was statistically significant. Postoperatively, the mean LDH value in AVR was 228 U/l (91% of upper normal, 250 U/l) at 3-6 months, and 246 U/l (98% of upper normal) at one year. In MVR, these LDH values were 271 U/l (108% of upper normal) and 265 U/l (106% of upper normal). CONCLUSIONS: These results indicate that the On-X valve causes lower levels of chronic hemolysis in the immediate postoperative period and up to one year after surgery, especially when compared with reports of LDH elevations up to 200% of upper normal. Hemolytic anemia has not occurred in this patient population.

Aortic Valve↗
PubMed1981

Families in Israel, 1980.

This publication "presents data on families (households) in Israel for the year 1980. The data are based on the series of civilian Labour Force Surveys conducted since 1954, and relate to the characteristics of families in Israel with regard to size of family, population group, age, continent of birth, years of schooling, type of locality of residence and sex of family head."

Age Factors↗
PubMed1978

Age at marriage.

Explore the source record for details and available documents.

Age Factors↗
PubMed1992

[Detection of the safety depth on human chest by computer tomographic scanning].

Knowledges of acupuncture has played a major role in the treatment of human diseases, and has been mentioned in ancient Chinese medical literature for thousands of years. The loci which are most commonly used as treatment sites are points on the Ren Channel, kidney Channel, Stomach Channel, Pericardium Channel, Lung Channel, Spleen Channel and Gallbladder Channel for those loci on the human chest, insertion depth beyond safety level, can create serious consequences other such as pneumothorax, internal organ bleeding or other damage. This study was designed to determine the real safety depth for each locus by using a current scientific approach. The study was carried out at Tri-Service General Hospital and Mackay General Hospital. The sample patient population was 120. According to their body weight and height, patients were divided into six groups with various body sizes, i.e. normal, over and under-weight adults, and by sex differences. After computer tomographic scanning chest, the relative acupuncture loci should be measured according to anatomical position, then the distance between surface of the chest and thoracic pleura can be defined as its safety depth. For each locus of the groups, the mean and its interval of confident can be found. The analysis of variance (ANOVA), t-test, and multiple regression were also calculated by computer. The results show that there are significant differences in body chest loci within the same sex but, for different body sizes, statistically significant differences for each locus appear, so the safety depth for each chest locus has actually been proved. Not only does his data provide useful information for clinical practices, but also the standard safety depth for each loci on the chest could this be established.

Acupuncture Points↗