Modelo de los cinco factores de los trastornos de personalidad: Baremo español y validación

The categorical approach of personality disorders (PD) has given way to a dimensional paradigm. Within this, the Five-factor model (FFM) proposes theoretical hypotheses describing personality pathologies and PD empirical prototypes based on the DSM (DSM-PD). Moreover, a methodology to score DSM-PD using the NEO PI-R facets was developed. In this ex post-facto study FFM-PD count norms were developed using data from the NEO PI-R Spanish adaptation. Furthermore, the diagnostic agreement with the IPDE and validity of FFM-PD counts was analyzed in a clinical (n = 222) and non-clinical sample (n = 742). Based on NEO PI-R scores, we presented Spanish FFM-PD normative data. FFM-PD benchmarks were highly likely to be exceeded if subjects were classified as a subclinical case in the DSM-PD. Convergent correlations of FFM-PD counts with their equivalent subclinical cases of DSM-PD were statistically significant and outperformed any divergent correlation as well as the average divergent correlations in all FFM-PD. The use of a count technique based on NEO PI-R facets and Spanish FFM-PD normative data facilitate PD understanding and interpretation in various applied psychology fields.La concepción categórica de los trastornos de personalidad (TP) ha dado paso al paradigma dimensional, donde el modelo de los Cinco Factores (MCF) propone hipótesis teóricas para describir la patología de la personalidad y prototipos empíricos de los TP del DSM, además de técnicas para valorarlos en base a facetas del NEO PI-R. En este estudio ex post-facto se han elaborado baremos para el recuento de TP-MCF a partir de la adaptación española del NEO PI-R. Además, se ha comprobado la coherencia diagnóstica con IPDE y la validez de los recuentos de TP-MCF en una muestra clínica (n = 222) y otra no clínica (n = 742). A partir de las puntuaciones en NEO PI-R se elaboró el baremo español de los TP-MCF, cuyas cotas significativas son superadas con elevada probabilidad por casos subclínicos detectados con IPDE. Las correlaciones convergentes entre los recuentos de TP-MCF y los equivalentes casos de TP-DSM fueron estadísticamente significativas y superaron a cualquier correlación divergente y a la correlación divergente media en todos los TP-MCF. El recuento de facetas relevantes en TP-MCF y el baremo español resultante facilitan la comprensión e interpretación de los TP en distintos ámbitos de la psicología aplicada

Continuity of Genetic Risk for Aggressive Behavior Across the Life-Course

We test whether genetic influences that explain individual differences in aggression in early life also explain individual differences across the life-course. In two cohorts from The Netherlands (N = 13,471) and Australia (N = 5628), polygenic scores (PGSs) were computed based on a genome-wide meta-analysis of childhood/adolescence aggression. In a novel analytic approach, we ran a mixed effects model for each age (Netherlands: 12–70 years, Australia: 16–73 years), with observations at the focus age weighted as 1, and decaying weights for ages further away. We call this approach a ‘rolling weights’ model. In The Netherlands, the estimated effect of the PGS was relatively similar from age 12 to age 41, and decreased from age 41–70. In Australia, there was a peak in the effect of the PGS around age 40 years. These results are a first indication from a molecular genetics perspective that genetic influences on aggressive behavior that are expressed in childhood continue to play a role later in life

Visual Psychophysics and Physiological Optics Micrometric Control of the Optics of the Human Eye: Environment or Genes?

Citation: Tabernero J, Hervella L, Benito A, et al. Micrometric control of the optics of the human eye: environment or genes? Invest Ophthalmol Vis Sci. 2017;58:196458: -197058: . DOI: 10.1167 PURPOSE. The human eye has typically more optical aberrations than conventional artificial optical systems. While the lower order modes (defocus and astigmatism) are well studied, our purpose is to explore the influence of genes versus the environment on the higher order aberrations of the optical components of the eye. METHODS. We have performed a classical twin study in a sample from the Region of Murcia (Spain). Optical aberrations using a Hartmann-Shack sensor (AOnEye Voptica SL, Murcia, Spain) and corneal aberrations (using corneal topography data) were measured in 138 eyes corresponding to 69 twins; 36 monozygotic (MZ) and 33 dizygotic (DZ) pairs (age 55 years, SD 7 years). Intraclass correlation coefficients (ICCs) were used to estimate how strongly aberrations of twins resemble each other, and genetic models were fitted to quantify heritability in the selected phenotypes. RESULTS. Genes had a significant influence in the variance of most of the higher order aberration terms (heritability from 40% to 70%). This genetic influence was observed similarly in both cornea and complete eye aberrations. Additionally, the compensation factor of spherical aberration in the eye (i.e., how much corneal spherical aberration was compensated by internal spherical aberration) was found under genetic influence (heritability of 68%). CONCLUSIONS. There is a significant genetic contribution to the variance of aberrations of the eye, not only at macroscopic levels, as in myopia or astigmatism, but also at microscopic levels, where a few micrometers changes in surface topography can produce a large difference in the value of the optical aberrations

Personality characteristics below facets:A replication and meta-analysis of cross-rater agreement, rank-order stability, heritability and utility of personality nuances

Mõttus and colleagues (2017) reported evidence that the unique variance in specific personality characteristics captured by single descriptive items often displayed trait-like properties of cross-rater agreement, rank-order stability, and heritability. They suggested that the personality hierarchy should be extended below facets to incorporate these specific characteristics, called personality nuances. The present study attempted to replicate these findings, employing data from 6,287 individuals from 6 countries (Australia, Canada, Czech Republic, Denmark, Japan, and United States). The same personality measure-240-item Revised NEO Personality Inventory-and statistical procedures were used. The present findings closely replicated the original results. When the original and current results were meta-analyzed, the unique variance of nearly all items (i.e., items' scores residualized for all broader personality traits) showed statistically significant cross-rater agreement (median = .12) and rank-order stability over an average of 12 years (median = .24), and the unique variance of the majority of items had a significant heritable component (median = .14). These 3 item properties were intercorrelated, suggesting that items systematically differed in the degree of reflecting valid unique variance. Also, associations of items' unique variance with age, gender, and body mass index (BMI) replicated across samples and tracked with the original findings. Moreover, associations between item residuals and BMI obtained from one group of people allowed for a significant incremental prediction of BMI in an independent sample. Overall, these findings reinforce the hypotheses that nuances constitute the building blocks of the personality trait hierarchy, their properties are robust and they can be useful

Nausea and Vomiting During Pregnancy is Highly Heritable.

Nausea and vomiting during pregnancy (NVP) affects about 70 % of all expectant mothers and commonly impacts their physical health and psychosocial functioning. The aim of this study was to estimate the heritability of the presence, duration and severity of NVP. The sample consisted of 1723 women (M age = 41.78, SD = 11.67) including twins in both complete and incomplete pairs and their sisters from two cohorts participating in the NVP Genetics Consortium. The sample comprised 159 monozygotic and 140 dizygotic complete twin pairs, and 69 twin-sister pairs. We applied an extended twin design using OpenMx and Mx for secondary analysis. Individual differences in NVP were best explained by additive genetic and unique environmental effects. Heritability estimates were 73 % (95 % CIs = 57-84 %) for presence, 51 % (95 % CIs = 36-63 %) for duration and 53 % (95 % CIs = 38-65 %) for severity of NVP. The genetic correlation between duration and severity was almost perfect. Our results show that genes play an important role in different aspects of NVP and justify the importance of searching for genetic variants.</p

Genetic analysis of hyperemesis gravidarum reveals association with intracellular calcium release channel (RYR2)

Hyperemesis Gravidarum (HG), severe nausea/vomiting in pregnancy (NVP), can cause poor maternal/fetal outcomes. Genetic predisposition suggests the genetic component is essential in discovering an etiology. We performed whole-exome sequencing of 5 families followed by analysis of variants in 584 cases/431 controls. Variants in RYR2 segregated with disease in 2 families. The novel variant L3277R was not found in any case/control. The rare variant, G1886S was more common in cases (p = 0.046) and extreme cases (p = 0.023). Replication of G1886S using Norwegian/Australian data was supportive. Common variants rs790899 and rs1891246 were significantly associated with HG and weight loss. Copy-number analysis revealed a deletion in a patient. RYR2 encodes an intracellular calcium release channel involved in vomiting, cyclic-vomiting syndrome, and is a thyroid hormone target gene. Additionally, RYR2 is a downstream drug target of Inderal, used to treat HG and CVS. Thus, herein we provide genetic evidence for a pathway and therapy for HG

Genetic correlations and genome-wide associations of cortical structure in general population samples of 22824 adults

Cortical thickness, surface area and volumes vary with age and cognitive function, and in neurological and psychiatric diseases. Here we report heritability, genetic correlations and genome-wide associations of these cortical measures across the whole cortex, and in 34 anatomically predefined regions. Our discovery sample comprises 22,824 individuals from 20 cohorts within the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium and the UK Biobank. We identify genetic heterogeneity between cortical measures and brain regions, and 160 genome-wide significant associations pointing to wnt/β-catenin, TGF-β and sonic hedgehog pathways. There is enrichment for genes involved in anthropometric traits, hindbrain development, vascular and neurodegenerative disease and psychiatric conditions. These data are a rich resource for studies of the biological mechanisms behind cortical development and aging