Examination of the factor structure of the Schizotypal Personality Questionnaire (SPQ) among British and Trinidadian adults

Much debate in schizotypal research has centred on the factor structure of the Schizotypal Personality Questionnaire (SPQ), with research variously showing higher-order dimensionality consisting of two to seven dimensions. In addition, cross-cultural support for the stability of those factors remains limited. Here, we examined the factor structure of the SPQ among British and Trinidadian adults. Participants from a White British sub-sample (n = 351) resident in the UK and from an African Caribbean sub-sample (n = 284) resident in Trinidad completed the SPQ. The higher-order factor structure of the SPQ was analysed through confirmatory factor analysis, followed by multiple-group analysis for the model of best-fit. Between-group differences for sex and ethnicity were investigated using multivariate analysis of variance in relation to the higher-order domains. The model of best-fit was the four-factor structure, which demonstrated measurement invariance across groups. Additionally, these data had an adequate fit for two alternative models: a) 3 factors and b) a modified 4-factor. The British sub-sample had significantly higher scores across all domains than the Trinidadian group, and men scored significantly higher on the disorganised domain than women. The four-factor structure received confirmatory support and, importantly, support for use with populations varying in ethnicity and culture.

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

BACKGROUND: Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. METHOD: We performed a fine-scale mapping study of a 700 kb region including 441 genotyped and more than 1300 imputed genetic variants in 48,155 cases and 43,612 controls of European descent, 6269 cases and 6624 controls of East Asian descent and 1116 cases and 932 controls of African descent in the Breast Cancer Association Consortium (BCAC; http://bcac.ccge.medschl.cam.ac.uk/ ), and in 15,252 BRCA1 mutation carriers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Stepwise regression analyses were performed to identify independent association signals. Data from the Encyclopedia of DNA Elements project (ENCODE) and the Cancer Genome Atlas (TCGA) were used for functional annotation. RESULTS: Analysis of data from European descendants found evidence for four independent association signals at 12p11, represented by rs7297051 (odds ratio (OR) = 1.09, 95 % confidence interval (CI) = 1.06-1.12; P = 3 × 10(-9)), rs805510 (OR = 1.08, 95 % CI = 1.04-1.12, P = 2 × 10(-5)), and rs1871152 (OR = 1.04, 95 % CI = 1.02-1.06; P = 2 × 10(-4)) identified in the general populations, and rs113824616 (P = 7 × 10(-5)) identified in the meta-analysis of BCAC ER-negative cases and BRCA1 mutation carriers. SNPs rs7297051, rs805510 and rs113824616 were also associated with breast cancer risk at P < 0.05 in East Asians, but none of the associations were statistically significant in African descendants. Multiple candidate functional variants are located in putative enhancer sequences. Chromatin interaction data suggested that PTHLH was the likely target gene of these enhancers. Of the six variants with the strongest evidence of potential functionality, rs11049453 was statistically significantly associated with the expression of PTHLH and its nearby gene CCDC91 at P < 0.05. CONCLUSION: This study identified four independent association signals at 12p11 and revealed potentially functional variants, providing additional insights into the underlying biological mechanism(s) for the association observed between variants at 12p11 and breast cancer risk