FIELD, GEOCHRONOLOGIC, AND GEOCHEMICAL CONSTRAINTS ON LATE PRECAMBRIAN TO EARLY PALEOZOIC TERRANE ACCRETION IN THE SOUTHERN APPALACHIAN BLUE RIDGE PROVINCE

Xenolith-bearing orthogneiss of Amazonian affinity discovered in the Dellwood quadrangle in the Blue Ridge basement complex represents the oldest crustal component of the southern Appalachians (1.33 – 1.37 Ga: Quinn, 2012). New U-Pb zircon ages for migmatitic paragneiss of the Cartoogechaye terrane exposed in the Dellwood quadrangle reveal two unique detrital zircon age signatures that indicate either a local eastern Laurentian margin source or an exotic source. Detailed mapping, whole rock geochemistry, and U-Pb zircon geochronology were conducted to determine whether this exotic crustal component extends farther south into the Hazelwood 7.5” quadrangle. Lithological similarities exist between paragneisses in the Dellwood quadrangle and those in the Hazelwood quadrangle. However, the increase in proportion of leucosome and polyphase folding prevent direct correlation of lithologies between the areas. Whole rock major element compositions overlap the composition of basement orthogneisses. Zircon ages of six paragneiss samples reveal multiple detrital zircon age modes that are dominated by two Grenville modes at ~1050 and 1150 Ma. Minor zircon populations exist at ~450 – 480, 700 – 900, and 1300 – 1500 Ma. Age distributions and compositional trends are evidence that the protolith of the paragneiss in the Hazelwood quadrangle was Neoproterozoic rift sediments with a dominant Laurentian margin source

A regression based transmission/disequilibrium test for binary traits: the power of joint tests for linkage and association

BACKGROUND: In this analysis we applied a regression based transmission disequilibrium test to the binary trait presence or absence of Kofendred Personality Disorder in the Genetic Analysis Workshop 14 (GAW14) simulated dataset and determined the power and type I error rate of the method at varying map densities and sample sizes. To conduct this transmission disequilibrium test, the logit transformation was applied to a binary outcome and regressed on an indicator variable for the transmitted allele from informative matings. All 100 replicates from chromosomes 1, 3, 5, and 9 for the Aipotu and the combined Aipotu, Karangar, and Danacaa populations were used at densities of 3, 1, and 0.3 cM. Power and type I error were determined by the number of replicates significant at the 0.05 level. RESULTS: The maximum power to detect linkage and association with the Aipotu population was 93% for chromosome 3 using a 0.3-cM map. For chromosomes 1, 5, and 9 the power was less than 10% at the 3-cM scan and less than 22% for the 0.3-cM map. With the larger sample size, power increased to 38% for chromosome 1, 100% for chromosome 3, 31% for chromosome 5, and 23% for chromosome 9. Type I error was approximately 7%. CONCLUSION: The power of this method is highly dependent on the amount of information in a region. This study suggests that single-point methods are not particularly effective in narrowing a fine-mapping region, particularly when using single-nucleotide polymorphism data and when linkage disequilibrium in the region is variable

Childhood abuse and the content of delusions

Original article can be found at: http://www.sciencedirect.com/science/journal/01452134 Copyright Elsevier Ltd.We aimed to investigate possible associations between histories of childhood abuse and the content of delusions for individuals with psychotic disorders. 39 participants with a psychotic disorder including one or more delusional beliefs successfully completed structured interviews about childhood trauma, delusional beliefs and associated anomalous perceptual experiences including hallucinations. The presence of hallucinations was predicted by greater physical abuse. Greater abuse in general was associated with delusions involving ‘special abilities’ (grandiosity) and, at trend levels, with those involving ‘defective self’. Though preliminary, these results suggest that further investigation is warranted. The presence and nature of abuse may be relevant to delusional presentations and should form an essential part of clinical assessment of psychotic disorder.Peer reviewe

β2-Adrenergic receptor promoter haplotype influences the severity of acute viral respiratory tract infection during infancy: a prospective cohort study.

BACKGROUND: Despite the significant interest in β2-Adrenergic receptor (ADRB2) polymorphisms related to asthma, whether ADRB2 genetic variants are similarly associated with acute respiratory tract infections have not been studied. We hypothesized that genetic variants in ADRB2 associated with a response to asthma therapy during an asthma exacerbation were also associated with severity of acute respiratory tract infections. METHODS: To test this hypothesis, we genotyped 5 common polymorphisms in the promoter region and coding block of the ADRB2 gene (loci -2387, -2274, -1343, +46, and +79) from 374 Caucasian and African American term infants who were enrolled at the time of acute respiratory illness over four respiratory viral seasons. Severity of respiratory tract infections was measured using a bronchiolitis severity score (BSS; range = 0-12, clinically significant difference = 0.5) with a higher score indicating more severe disease. We assigned the promoter, coding and combined promoter and coding haplotypes to the unphased genotype data. The associations between each of these five single-nucleotide polymorphisms (SNPs) as well as the haplotypes and infant BSS were analyzed using nonparametric univariate analysis and multivariable proportional odds model separately in Caucasians and African Americans. RESULTS: There was no significant association between infant BSS and each of the SNPs in both Caucasians and African Americans. However, promoter haplotype CCA was associated with a decreased BSS in African Americans in a dose dependent manner. The median (interquartile range) BSS of infants with no copies of the CCA haplotype, one copy, and two copies of the CCA haplotype were 5.5 (2.0, 8.0), 4.0 (1.0, 7.5), and 3.0 (1.0, 4.0), respectively. This dose dependent relationship persisted after adjusting for infant age, gender, daycare exposure, secondhand smoke exposure, prior history of breastfeeding, siblings at home, and enrollment season (adjusted odds ratio: 0.59, 95 % confidence interval: 0.36, 0.98). There was no similar protective relationship of haplotype CCA on severity of respiratory tract infections identified in Caucasians. CONCLUSIONS: ADRB2 genotype may be predictive of severity of acute respiratory tract infections in African Americans, and potentially identify a subset of infants who may respond to beta-agonist therapy

Multivariate association analysis of the components of metabolic syndrome from the Framingham Heart Study

Metabolic syndrome, by definition, is the manifestation of multiple, correlated metabolic impairments. It is known to have both strong environmental and genetic contributions. However, isolating genetic variants predisposing to such a complex trait has limitations. Using pedigree data, when available, may well lead to increased ability to detect variants associated with such complex traits. The ability to incorporate multiple correlated traits into a joint analysis may also allow increased detection of associated genes. Therefore, to demonstrate the utility of both univariate and multivariate family-based association analysis and to identify possible genetic variants associated with metabolic syndrome, we performed a scan of the Affymetrix 50 k Human Gene Panel data using 1) each of the traits comprising metabolic syndrome: triglycerides, high-density lipoprotein, systolic blood pressure, diastolic blood pressure, blood glucose, and body mass index, and 2) a composite trait including all of the above, jointly. Two single-nucleotide polymorphisms within the cholesterol ester transfer protein (CETP) gene remained significant even after correcting for multiple testing in both the univariate (p < 5 × 10-7) and multivariate (p < 5 × 10-9) association analysis. Three genes met significance for multiple traits after correction for multiple testing in the univariate analysis, while five genes remained significant in the multivariate association. We conclude that while both univariate and multivariate family-based association analysis can identify genes of interest, our multivariate approach is less affected by multiple testing correction and yields more significant results