Influence of COMT genotype and affective distractors on the processing of self-generated thought

The catechol-O-methyltransferase (COMT) enzyme is a major determinant of prefrontal dopamine levels. The Val¹⁵⁸Met polymorphism affects COMT enzymatic activity and has been associated with variation in executive function and affective processing. This study investigated the effect of COMT genotype on the flexible modulation of the balance between processing self-generated and processing stimulus-oriented information, in the presence or absence of affective distractors. Analyses included 124 healthy adult participants, who were also assessed on standard working memory (WM) tasks. Relative to Val carriers, Met homozygotes made fewer errors when selecting and manipulating self-generated thoughts. This effect was partly accounted for by an association between COMT genotype and visuospatial WM performance. We also observed a complex interaction between the influence of affective distractors, COMT genotype and sex on task accuracy: male, but not female, participants showed a sensitivity to the affective distractors that was dependent on COMT genotype. This was not accounted for by WM performance. This study provides novel evidence of the role of dopaminergic genetic variation on the ability to select and manipulate self-generated thoughts. The results also suggest sexually dimorphic effects of COMT genotype on the influence of affective distractors on executive function.     

Genetic variation of 17 autosomal STR loci in the Lahu population from Yunnan and phylogenetic structure exploration among 28 populations

This study evaluated the genetic variation of 17 autosomal short tandem repeat (STR) loci included in the PowerPlex® 18D Kit. Samples of 562 unrelated healthy Lahu individuals living in Yunnan Province in southwestern China were investigated. The data were analyzed to provide information on allele frequencies and other statistical parameters relevant to the forensic population. Of the 17 loci, 16 reached the Hardy–Weinberg equilibrium after Bonferroni correction. A total of 176 alleles were identified in 17 STR loci, and allele frequencies ranged from 0.000 890 to 0.578 292. The combined discrimination power (CPD) and probability of excluding paternity (CPE) of the 17 STR loci were 0.999 999 999 999 999 999 489 and 0.999 998 301 753 122. The genetic relationships among 28 populations were also estimated.     

Evidence from a BreastScreen cohort does not support a longer inter-screen interval in women who have no conventional risk factors for breast cancer

ObjectivesTo determine screening outcomes in women who have no recorded risk factors for breast cancer.MethodsA retrospective population-based cohort study included all 1,026,137 mammography screening episodes in 323,082 women attending the BreastScreen Western Australia (part of national biennial screening) program between July 2007 and June 2017. Cancer detection rates (CDR) and interval cancer rates (ICR) were calculated in screening episodes with no recorded risk factors for breast cancer versus at least one risk factor stratified by age. CDR was further stratified by timeliness of screening (<27 versus ≥27 months); ICR was stratified by breast density.ResultsAmongst 566,948 screens (55.3%) that had no recorded risk factors, 2347 (40.9%) screen-detected cancers were observed. In screens with no risk factors, CDR was 50 (95%CI 48–52) per 10,000 screens and ICR was 7.9 (95%CI 7.4–8.4) per 10,000 women-years, estimates that were lower than screens with at least one risk factor (CDR 83 (95%CI 80–86) per 10,000 screens, ICR 12.2 (95%CI 11.5–13.0) per 10,000 women-years). Compared to timely screens with risk factors, delayed screens with no risk factors had similar CDR across all age groups and a higher proportion of node positive cancers (26.1% vs 20.7%). ICR was lowest in screens that had no risk factors nor dense breasts in all age groups.ConclusionsMajority of screens had no recorded breast cancer risk factors, hence a substantial proportion of screen-detected cancers occur in these screening episodes. Our findings may not justify less frequent screening in women with no risk factors.     

Genetic diversity of HLA system in a population from Guerrero,Mexico

We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 144 Mexicans from the state of Guerrero to obtain information regarding allelic and haplotypic frequencies. We find that the ten most frequent haplotypes in the state of Guerrero include eight Native American and two European haplotypes. Admixture estimates revealed that the main genetic components in the state of Guerrero are Native American (61.36 ± 2.69% by ML; 54.17% of Native American haplotypes) and European (35.01 ± 4.59% by ML; 32.29% of European haplotypes), and a relatively low African genetic component (3.63 ± 2.38% by ML; 5.90% of African haplotypes).     

No Influence of the Fat Mass and Obesity-Associated Gene rs9939609 Single Nucleotide Polymorphism on Blood Lipids in Young Males

The fat mass and obesity-associated gene (FTO) rs9939609 A-allele is linked to obesity and dyslipidemia, yet the independent influence of this polymorphism on blood lipids remains equivocal. We examined the influence of the FTO rs9939609 polymorphism on fasting and postprandial blood lipids in individuals homozygous for the risk A-allele or T-allele with similar anthropometric and demographic characteristics. 12 AA and 12 TT males consumed a standardized meal after fasting overnight. Blood samples were collected at baseline (−1.5 h), before the meal (0 h), and for five hours postprandially to measure lipid, glucose, and insulin concentrations. Time-averaged total area under the curve (TAUC) values (0–5 h) were calculated and compared between genotypes. Fasting triacylglycerol (TG), high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, total cholesterol, non-esterified fatty acid (NEFA), glucose, and insulin concentrations were similar between groups (p ≥ 0.293). TAUC for TG was similar in AAs and TTs (95% confidence interval (CI) −0.52 to 0.31 mmol/L/h; p = 0.606). Likewise, TAUC values were similar for NEFA (95% CI −0.04 to 0.03 mmol/L/h; p = 0.734), glucose (95% CI −0.41 to 0.44 mmol/L/h; p = 0.951), and insulin (95% CI −6.87 to 2.83 pmol/L/h; p = 0.395). Blood lipids are not influenced by the FTO rs9939609 polymorphism, suggesting the FTO-dyslipidemia link is mediated by adiposity and weight management is important in preventing FTO-related lipid variations.