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PubMed1975

Creativity and cortical activation during creative, intellectual and EEG feedback tasks.

Thirty-two male subjects were divided into four groups based on their performance on the remote associates test and alternate uses test, two measures of creativity. Right EEG alpha presence was monitored under basal conditions, while subjects took tests of creativity and intelligence, and while they attempted to enhance and suppress the amount of alpha in a feedback situation. High scorers on the alternate uses test operated at a high percentage of basal alpha during all tests while high scorers on the remote associates test showed differential amounts of alpha presence across tests, with the highest percentage of basal alpha during tests of creativity and the lowest percentage during an intellectual test. Both high creative groups tended to show increases in amount of alpha across trials when trying to suppress alpha as well as when trying to enhance it, but did not differ in overall control from the low creative groups.

Alpha Rhythm↗
PubMed1998

Low values on 50 gram glucose challenge test or oral 100 gram glucose tolerance test are associated with good perinatal outcome.

We set out to reevaluate the hypothesis that high normal (negative) results of 50 g oral glucose challenge test or high normal glucose level on 100 g oral glucose tolerance test are associated with complications of pregnancy and delivery. This was a prospective study involving 735 nondiabetic women. The first group (n=352) was made up of pregnant women with normal 50 g oral glucose challenge test without previous history of diabetes mellitus or gestational diabetes. The second group (n=383) was made up of pregnant women without previous history of diabetes mellitus or gestational diabetes with an abnormal 50 g oral glucose challenge test and with normal 100 g oral glucose tolerance test and not more than one previous delivery. In nondiabetic women, we demonstrated a positive correlation between high normal 50 g glucose challenge test values and the incidence of preeclampsia, caesarean section rate, macrosomia, neonatal hyperlipidaemia and minor congenital abnormalities. We failed to confirm any relationship to any pregnancy complication in pregnant women with 2-hour glucose levels in the range 6.7-9.1 mmol/l on the 100 g oral glucose tolerance test. We have demonstrated a positive relationship between the incidence of premature rupture of membranes and 1-hour glucose level, caesarean section rate and maternal 1-hour glucose level or 1-hour glucose level minus fasting glucose level of 4.2 mmol/l, instrumental delivery rate and maternal 3-hour glucose level, incidence of neonatal macrosomia and 1-hour glucose level, and incidence of neonatal hyperlipidaemia and at least one high but normal glucose level on the 100 g oral glucose tolerance test. With regard to pregnancy and delivery complications there were no significant difference if the high normal value is on the 50 g glucose challenge test or on the 100 g oral glucose tolerance test. It is concluded that one high normal 100 g oral glucose tolerance test or high normal 50 g glucose challenge test are associated with adverse pregnancy and delivery outcome. Nondiabetic women with 50 g glucose challenge test value of 6.1 mmol/l and/or 100 g oral glucose tolerance test values of 5 mmol/l have a favourable pregnancy and delivery outcome.

Journal Article↗
PubMed1978

Experiments on the preparations and testing of associated vaccine against foot and mouth disease and vesicular disease in swine.

Tests for associated immunization of swine against Foot and Mouth Disease (FMD) and Vesicular Disease (SVD) of swine were carried out. As a result of this investigation, it was established that the prepared and tested inactivated oil vaccine is harmless and immunogenic in sensitive animals. In investigating the course of immunity, the presence of antibody against both antigens was demonstrated in vaccinated animals. All once-vaccinated animals were defended against the virus of SVD during challenge, and 75% of them were defended against FMD. After revaccination, all immunized swine were defended against infection with both viruses. The question of the quality of the associated vaccine and the possibilities of its massive use in industrial swine rearing was discussed.

Adjuvants, Immunologic↗
PubMed2005

Assessing the power of tag SNPs in the mapping of quantitative trait loci (QTL) with extremal and random samples.

BACKGROUND: Recent studies have indicated that the human genome could be divided into regions with low haplotype diversity interspersed with regions of high haplotype diversity. In regions of low haplotype diversity, a small fraction of SNPs (tag SNPs) are sufficient to account for most of the haplotype diversity of the human genome. These tag SNPs can be extremely useful for testing the association of a marker locus with a qualitative or quantitative trait locus in that it may not be necessary to genotype all the SNPs. When tag SNPs are used to reduce the genotyping effort in association studies, it is important to know how much power is lost. It is also important to know how much power is gained when tag SNPs instead of the same number of randomly chosen SNPs are used. RESULTS: We design a simulation study to tackle these problems for a variety of quantitative association tests using either case-parent samples or unrelated population samples. First, the samples are generated based on the quantitative trait model with the assumption of either an extremal sampling scheme or a random sampling scheme. Second, a small number of samples are selected to determine the haplotype blocks and the tag SNPs. Third, the statistical power of the tests is evaluated using four kinds of data: (1) all the SNPs and the corresponding haplotypes, (2) the tag SNPs and the corresponding haplotypes, (3) the same number of evenly spaced SNPs with minor allele frequency greater than a threshold and the corresponding haplotypes, (4) the same number of randomly chosen SNPs and their corresponding haplotypes. CONCLUSION: Our results suggest that in most situations genotyping efforts can be significantly reduced by using tag SNPs for mapping the QTL in association studies without much loss of power, which is consistent with previous studies on association mapping of qualitative traits. For all situations considered, two-locus haplotype analysis using tag SNPs are more powerful than those using the same number of randomly selected SNPs, but the degree of such power differences depends upon the sampling scheme and the population history.

Chromosome Mapping↗
PubMed2004

IL10 gene polymorphisms are associated with asthma phenotypes in children.

IL10 is an anti-inflammatory cytokine that has been found to have lower production in macrophages and mononuclear cells from asthmatics. Since reduced IL10 levels may influence the severity of asthma phenotypes, we examined IL10 single-nucleotide polymorphisms (SNPs) for association with asthma severity and allergy phenotypes as quantitative traits. Utilizing DNA samples from 518 Caucasian asthmatic children from the Childhood Asthma Management Program (CAMP) and their parents, we genotyped six IL10 SNPs: 3 in the promoter, 2 in introns, and one in the 3' UTR. Using family-based association tests, each SNP was tested for association with asthma and allergy phenotypes individually. Population-based association analysis was performed with each SNP locus, the promoter haplotypes and the 6-loci haplotypes. The 3' UTR SNP was significantly associated with FEV(1) as a percent of predicted (FEV(1)PP) (P=0.0002) in both the family and population analyses. The promoter haplotype GCC was positively associated with IgE levels and FEV(1)PP (P=0.007 and 0.012, respectively). The promoter haplotype ATA was negatively associated with lnPC(20) and FEV(1)PP (P=0.008 and 0.043, respectively). Polymorphisms in IL10 are associated with asthma phenotypes in this cohort. Further studies of variation in the IL10 gene may help elucidate the mechanism of asthma development in children.

3' Untranslated Regions↗
PubMed2004

Family-based tests for associating haplotypes with general phenotype data: application to asthma genetics.

We provide a general purpose family-based testing strategy for associating disease phenotypes with haplotypes when phase may be ambiguous and parental genotype data may be missing. These tests for linkage and association can be used in candidate gene studies with tightly linked markers. Our proposed weighted conditional approach extends the method described in Rabinowitz and Laird to multiple markers. It is attractive because it provides haplotype tests for family-based studies that are efficient and robust to population admixture, phenotype distribution specification, and ascertainment based on phenotypes. It can handle missing parental genotypes and/or missing phase in both offspring and parents. It yields either haplotype-specific (univariate) tests or multi-haplotype (global) tests. This extension has been implemented in the freely available software haplotype FBAT. We used the haplotype FBAT program to test for associations between asthma phenotypes and single nucleotide polymorphisms (SNPs) in the beta-2 adrenergic receptor gene. Whereas no single SNP showed significant association with asthma diagnosis or bronchodilator responsiveness (quantitative trait), a haplotype-based global test found a highly significant association with asthma diagnosis (P value <0.00005) and the measure of bronchodilator responsiveness (P value =0.016).

Algorithms↗
PubMed2005

Haplotypes of the WNK1 gene associate with blood pressure variation in a severely hypertensive population from the British Genetics of Hypertension study.

Mutations in the WNK1 gene cause Gordon's syndrome, a rare Mendelian form of hypertension. We assessed whether common WNK1 variants might also contribute to essential hypertension (EH), a multifactorial disorder affecting > 25% of the adult population worldwide. A panel of 19 single nucleotide polymorphisms (SNPs) spanning the gene was selected from public databases and was genotyped in 100 white European families to determine the pattern of linkage disequilibrium, haplotype structure and tagging SNPs for the WNK1 locus. Eight tagging SNPs were identified with 90% power to predict common WNK1 haplotypes and SNPs. Family-based association tests were used to test for association with EH and severity of hypertension in 712 severely hypertensive families from the MRC British Genetics of Hypertension study resource. No association was found between WNK1 polymorphisms or haplotypes with hypertension; however, one SNP rs1468326, located 3 kb from the WNK1 promoter, was found to be nominally associated with severity of hypertension, with both systolic blood pressure (BP) (Z = +2.24, P = 0.025) and diastolic BP (Z = +1.99, P = 0.046). We also found nominal support for association of one common WNK1 haplotype with increased systolic BP (Z = +1.91, P = 0.053). This is the first study to perform haplotype association analysis of the WNK1 gene with EH. This finding of association between a SNP near the promoter region and the severity of hypertension suggests that increased expression of WNK1 might contribute to BP variability and susceptibility to EH similar to the mechanism of hypertension observed in Gordon's syndrome.

Adult↗
PubMedDate not supplied

Pain-related factors contributing to muscle inhibition in patients with chronic low back pain: an experimental investigation based on superimposed electrical stimulation.

OBJECTIVE: To evaluate muscle strength, as a component of physical deconditioning, and central activation ratio, representing the performance level during testing, in patients with chronic low back pain as compared to healthy controls, and to evaluate the contribution of cognitive-behavioral and pain-related factors to the central activation ration of patients with chronic low back pain. METHODS: Twenty-five patients with chronic low back pain and 25 age and gender-matched controls participated. Muscle strength, that is, peak torque of the quadriceps muscle, was measured on a Cybex dynamometer. During peak torque, the quadriceps muscle was percutaneously stimulated using superimposed electrical stimulation, generating an additional twitch torque in case of submaximal performance. The central activation ratio was calculated as peak torque/(peak torque + additional twitch torque). To evaluate cognitive-behavioral and pain-related factors influencing the central activation ratio, measures of fear of injury, pain catastrophizing, psychologic distress, and pain intensity were used. Differences between groups were tested using either T tests or Mann-Whitney U tests. Associations were tested by partial correlation coefficients controlling for gender. RESULTS: The male:female ratio was 15:10. Mean age and chronic low back pain duration were 42.7 (+/-9.5) and 9.9 (+/-8.3) years, respectively. Mean muscle torque (per kg lean body mass) in patients (1.95 Nm/kg +/-0.8) was less than in controls (3.16 Nm/kg +/-0.7) (P < 0.01). Median central activation ratio was lower in patients (P < 0.05). Patients experiencing increased psychologic distress and patients with a higher current pain level showed a lower central activation ratio (P < 0.05). CONCLUSIONS: When interpreting decreased muscle strength in terms of physical deconditioning in patients with chronic low back pain, submaximal performance has to be taken into account. The results suggest that patients with chronic low back pain who report increased psychologic distress and a higher level of current pain tend to show increased inhibition of muscle activity, leading to submaximal performance.

Adolescent↗
PubMed2006

Genetic linkage and association analysis in type 1 von Willebrand disease: results from the Canadian type 1 VWD study.

BACKGROUND: von Willebrand disease (VWD) is the most common bleeding disorder known in humans, with type 1 VWD representing the majority of cases. Unlike the other variant forms of VWD, type 1 disease represents a complex genetic trait, influenced by both genetic and environmental factors. AIM: To evaluate the contribution of the von Willebrand factor (VWF) and ABO blood group loci to the type 1 VWD phenotype, and to assess the potential for locus heterogeneity in this condition, we have performed genetic linkage and association studies on a large, unselected type 1 VWD population. METHOD: We initially collected samples from 194 Canadian type 1 VWD families for analysis. After the exclusion of families found to have either type 2 or type 3 VWD, and pedigrees with samples from single generations, linkage and association analysis was performed on 155 type 1 VWD families. RESULTS AND CONCLUSION: The linkage study has shown a low heterogeneity LOD score of 2.13 with the proportion of families linked to the VWF gene estimated to be 0.41. Linkage was not detected to the ABO locus in this type 1 VWD population. In the family-based association test, significant association was found between the type 1 VWD phenotype, the quantitative traits, VWF:Ag, VWF:RCo, and FVIII:C and the ABO 'O' and 'A' alleles and the VWF codon 1584 variant. There was also weak association with the -1185 promoter polymorphism and VWF:Ag, VWF:RCo, and FVIII:C plasma levels. These studies provide further evidence to support the role for genetic loci other than VWF and ABO in the pathogenesis of type 1 VWD.

ABO Blood-Group System↗
PubMed2005

Identifying susceptibility genes for prostate cancer--a family-based association study of polymorphisms in CYP17, CYP19, CYP11A1, and LH-beta.

Polymorphisms in genes that code for enzymes or hormones involved in the synthesis and metabolism of androgens are compelling biological candidates for prostate cancer. Four such genes, CYP17, CYP19, CYP11A1, and LH-beta, are involved in the synthesis and conversion of testosterone to dihydrotestosterone and estradiol. In a study of 715 men with and without prostate cancer from 266 familial and early-onset prostate cancer families, we examined the association between prostate cancer susceptibility and common single-nucleotide polymorphisms in each of these four candidate genes. Family-based association tests revealed a significant association between prostate cancer and a common single-nucleotide polymorphism in CYP17 (P=0.004), with preferential transmission of the minor allele to unaffected men. Conditional logistic regression analysis of 461 discordant sibling pairs from these same families reaffirmed the association between the presence of the minor allele in CYP17 and prostate cancer risk (odds ratio, 0.51; 95% confidence interval, 0.28-0.92). These findings suggest that variation in or around CYP17 predicts susceptibility to prostate cancer. Family-based association tests may be especially valuable in studies of genetic variation and prostate cancer risk because this approach minimizes confounding due to population substructure, which is of particular concern for prostate cancer given the tremendous variation in the worldwide incidence of this disease.

Aromatase↗
PubMed2005

Extended haplotype in the tumor necrosis factor gene cluster is associated with asthma and asthma-related phenotypes.

RATIONALE: Tumor necrosis factor is a proinflammatory cytokine found in increased concentrations in asthmatic airways. The TNF-alpha (TNF) and lymphotoxin-alpha (LTA) genes belong to the TNF gene superfamily located within the human major histocompatibility complex on chromosome 6p in a region repeatedly linked to asthma. The TNF position -308 and LTA NcoI polymorphisms are believed to influence TNF transcription and secretion, respectively. OBJECTIVES: This study sought to determine whether polymorphisms in TNF or LTA, or in TNF-LTA haplotypes, are associated with asthma and asthma phenotypes. METHODS: We genotyped the TNF -308 and LTA NcoI polymorphisms, and two other haplotype-tagging polymorphisms in the TNF and LTA genes, in 708 children with mild to moderate asthma enrolled in the Childhood Asthma Management Program and in their parents. Using an extension of the family-based association tests in the PBAT program, each polymorphism was tested for association with asthma, age at onset of asthma, and time series data on baseline FEV(1) % predicted, postbronchodilator FEV(1) % predicted, body mass index, and log of PC(20). MEASUREMENTS AND MAIN RESULTS: Although no associations were found for the individual single-nucleotide polymorphisms, the haplotype analysis found the LTA NcoI_G/LTA 4371T/TNF -308G/TNF 1078G haplotype to be associated with asthma and with all five phenotype groups. CONCLUSIONS: We conclude that it is unlikely that the TNF -308 or LTA NcoI polymorphisms influence asthma susceptibility individually, but that this haplotype of variants may be functional or may be in linkage disequilibrium with other functional single-nucleotide polymorphisms.

Asthma↗
PubMed2005

Characteristics of replicated single-nucleotide polymorphism genotypes from COGA: Affymetrix and Center for Inherited Disease Research.

Genetic Analysis Workshop 14 provided re-genotyped single-nucleotide polymorphism (SNP) data. Specifically, both Center for Inherited Disease Research (CIDR) and Affymetrix genotyped the same 11,560 SNPs from the Affymetrix GeneChip Mapping 10K Array marker set on the same 184 individuals from the Collaborative Study on the Genetics of Alcoholism database. While the inconsistency rate between CIDR and Affymetrix (two different genotypes for the same subject) was low (0.2%), the non-replication rate (two different genotypes for the same subject or one identified genotype and one missing genotype) was substantial (9.5%). The missing data could be from no-call regions, which is inconsistent with recent recommendations about the use of no-call regions in association tests. In addition, no-call regions would suggest that the actual inconsistency rate is higher than reported. A high inconsistency rate has significant impact on power in related hypothesis tests. In addition, the data are consistent with assumptions made in a recently proposed likelihood ratio test of association for re-genotyped data.

Alcoholism↗
PubMed1977

Neurophysiological aspects and learning processes in schizophrenic patients.

Two groups of schizophrenic patients (acute and chronic subjects) were observed in order to study possible differences in neuropsychological performances and their relationship with symptomatology. 16 acute and 16 chronic patients, aged 18 to 35 years were tested with a battery of neuropsychological tests (Word Association Test, Serial Verbal Learning, Weigl's test, Simple Reaction Times, Choice Continuous Reaction Time). Clinical profiles were evaluated by means of MMPI and WAIS (Wechsler Adult Intelligence Scale). Findings concerning cognitive processes show no significant differences between the two groups. Results suggest a correlation between clinical profiles and performances in acute patients, whereas in chronic subjects this correlation seems markedly reduced. Finally, chronicity (i.e. the length of illness) does not seem so be an important factor in determining consistent defects in neuropsychological performances.

Acute Disease↗
PubMed1995

Intermediate and long-term anaerobic performance of elite Alpine skiers.

Physiological requirements of Alpine skiing, demanding power from both aerobic and anaerobic sources, were first reported in 1965 by Bengt Saltin and coworkers. An update on the physiology of Alpine skiing was presented by Karlsson and colleagues in 1978, and their work remains a benchmark for most current research dealing with Alpine skiers. These works have identified muscular strength and complex motor skill abilities as essential to the competitive ski racer. The energy demands of Alpine ski racing dominate the range between 45 and 2 min. Since the late 1970s, many researchers have reported a variety of tests that associate test scores to skiing performance. Traditionally, short tests of anaerobic power such as the 30-s Wingate test have been used to reflect anaerobic capacity. Only recently have researchers and coaches begun to question whether a test that is shorter in duration than most skiing performances can estimate anaerobic power as it relates to Alpine ski racing. This study reviews current literature relative to physiological requirements for Alpine skiing as well as relating 18 nationally ranked male (N = 10) and female (N = 8) Alpine ski racers' USSA national points lists for slalom and giant slalom to power measures from 30-s and 90-s Wingate cycle ergometer tests. Further directions of physiological research in Alpine skiing are also offered.

Adult↗
PubMed2003

PDS is a new susceptibility gene to autoimmune thyroid diseases: association and linkage study.

Autoimmune thyroid disease (AITD), including Graves' disease (GD), Hashimoto thyroiditis (HT), and primary idiopathic myxedema, is caused by multiple genetic and environmental factors. Genes involved in immune response and/or thyroid physiology appear to influence susceptibility to disease. The PDS gene (7q31), responsible for Pendred syndrome (congenital sensorineural hearing loss and goiter), encodes a transmembrane protein known as pendrin. Pendrin is an apical porter of iodide in the thyroid. To evaluate the contribution of PDS gene in the genetic susceptibility of AITD, we examined four microsatellite markers in the gene region. Two hundred thirty-three unrelated patients (GD,141; HT, 54; primary idiopathic myxedema, 38), 15 multiplex AITD families (104 individuals/46 patients) and 154 normal controls were genotyped. Analysis of case-control data showed a significant association of D7S496 and D7S2459 with GD (P = 10(-3)) and HT (P = 1.07 10(-24)), respectively. The family-based association test showed significant association and linkage between AITDs and alleles 121 bp of D7S496 and 173 bp of D7S501. Results obtained by transmission disequilibrium test are in good agreement with those obtained by the family-based association test. Indeed, evidence for linkage and association of allele 121 bp of D7S496 with AITD was confirmed (P = 0.0114). Multipoint nonparametric linkage analysis using MERLIN showed intriguing evidence for linkage with marker D7S496 in families with only GD patients [Z = 2.12, LOD = 0.81, P = 0.026]. Single-point and multipoint parametric LOD score linkage analysis was also performed. Again, the highest multipoint parametric LOD score was found for marker D7S496 (LOD = 1.23; P = 0.0086) in families segregating for GD under a dominant model. This work suggests that the PDS gene should be considered a new susceptibility gene to AITDs with varying contributions in each pathology.

Alleles↗
PubMed1988

Verbal and abstract designs paired associate learning after unilateral temporal lobectomy.

The combined use of a new abstract designs Paired Associates test with the Verbal Paired Associates test of Form 1 of the Wechsler Memory Scale was investigated with respect to eliciting material specific memory deficits after unilateral temporal lobectomy. Although the verbal test differentiated between the memory ability of these two groups more clearly than the abstract designs test, the effectiveness of looking at the difference between total scores on the two tests was demonstrated. The two tests produced similar levels of performance in control subjects.

Analysis of Variance↗
PubMed2003

Statistics review 8: Qualitative data - tests of association.

This review introduces methods for investigating relationships between two qualitative (categorical) variables. The chi2 test of association is described, together with the modifications needed for small samples. The test for trend, in which at least one of the variables is ordinal, is also outlined. Risk measurement is discussed. The calculation of confidence intervals for proportions and differences between proportions are described. Situations in which samples are matched are considered.

Chi-Square Distribution↗
PubMed2004

Testing for association with a case-parents design in the presence of genotyping errors.

Genotyping errors can create a problem for the analysis of case-parents data because some families will exhibit genotypes that are inconsistent with Mendelian inheritance. The problem with correcting Mendelian inconsistent genotype errors by regenotyping or removing families in which they occur is that the remaining unidentified genotype errors can produce excess type I (false positive) error for some family-based tests for association. We address this problem by developing a likelihood ratio test (LRT) for association in a case-parents design that incorporates nuisance parameters for a general genotype error model. We extend the likelihood approach for a single SNP to include short haplotypes consisting of 2 or 3 SNPs. The extension to haplotypes is based on assumptions of random mating, multiplicative penetrances, and at most a single genotype error per family. For a single SNP, we found, using Monte Carlo simulation, that type I error rate can be controlled for a number of genotype error models at different error rates. Simulation results suggest the same is true for 2 and 3 SNPs. In all cases, power declined with increasing genotyping error rates. In the absence of genotyping errors, power was similar whether nuisance parameters for genotype error were included in the LRT or not. The LRT developed here does not require prior specification of a particular model for genotype errors and it can be readily computed using the EM algorithm. Consequently, this test may be generally useful as a test of association with case-parents data in which Mendelian inconsistent families are observed.

Adult↗