Haplotypes in the gene encoding protein kinase c-beta (PRKCB1) on chromosome 16 are associated with autism

Autism is a developmental disorder characterized by impairments in social interaction and communication associated with repetitive patterns of interest or behavior. Autism is highly influenced by genetic factors. Genome-wide linkage and candidate gene association approaches have been used to try and identify autism genes. A few loci have repeatedly been reported linked to autism. Several groups reported evidence for linkage to a region on chromosome 16p. We have applied a direct physical identity-by-descent (IBD) mapping approach to perform a high-density (0.85 megabases) genome-wide linkage scan in 116 families from the AGRE collection. Our results confirm linkage to a region on chromosome 16p with autism. High-resolution single-nucleotide polymorphism (SNP) genotyping and analysis of this region show that haplotypes in the protein kinase c-beta gene are strongly associated with autism. An independent replication of the association in a second set of 167 trio families with autism confirmed our initial findings. Overall, our data provide evidence that the PRKCB1 gene on chromosome 16p may be involved in the etiology of autism.     

Cathepsin S genotypes are associated with Apo-A1 and HDL-cholesterol in lean and obese French populations

Cathepsin S (CTSS) is a cysteine protease that has a central role in remodeling the extracellular matrix and, as such, has been implicated in the etiology of cardiovascular disease. This study used five tag single nucleotide polymorphisms (tSNPs) to screen the CTSS gene in healthy lean ( n  = 1891) and obese French populations ( n  = 477) for their association with various phenotypes: body mass index, waist-to-hip ratio, glycemia, total cholesterol, triglycerides, high-density lipoprotein cholesterol (HDL-C), apolipoprotein A1 (Apo-A1) and apolipoprotein B. Significant associations were identified between rs11576175 tSNP (A/G) and Apo-A1 and HDL-C plasma levels in a sex-specific manner. Lean female subjects homozygous for the minor A-allele had higher levels of circulating Apo-A1 (p = 0.0003), while lean male A/A carriers had higher levels of HDL-C (p = 0.007) compared with the other genotypes. In the obese cohort, associations were found between three tSNPs and Apo-A1 levels in adult female subjects: rs10888390 (G/A), p = 0.01; rs10888394 (T/C), p = 0.03; and rs1136774 (C/T), p = 0.02; however, only rs10888390 remained significant in a combined model (p = 0.03). These results provide the first evidence that CTSS sequence variations are associated with two human metabolic risk factors for cardiovascular diseases: plasma Apo-A1 and HDL-C concentrations.     

Job strain and risk of breast cancer

BACKGROUND: Cohort studies investigating the association between stress and breast cancer have shown highly inconsistent results. METHODS: The Women's Lifestyle and Health Cohort Study included 36,332 Swedish women age 30-50 years who were employed at baseline (1991-1992). Participants were followed through December 2004 using linkages to national registries. A total of 767 women were diagnosed with breast cancer during follow-up. RESULTS: Among women working full-time, low job control and high job demands were weakly associated with breast cancer risk (hazard ratios of 1.2; 95% CI = 1.0-1.5). Women with both low job control and high job demands ("job strain") had higher risk of breast cancer than women with high job control and low demands ("low strain") (1.2; 0.9-1.6). Multivariate adjustment slightly strengthened the association between breast cancer and job strain (1.4; 1.1-1.9), whereas the associations with control and demands were unchanged. Work characteristics were unrelated to breast cancer risk among women working part-time. DISCUSSION: There was a small increased risk of breast cancer among women in full-time employment who experienced job strain, but not among part-time workers.     

Isolation and characterisation of polymorphic microsatellite markers in the western ringtail possum, Pseudocheirus occidentalis

We report on the development of 14 novel polymorphic microsatellite markers from the western ringtail possum (Pseudocheirus occidentalis), a “threatened” (Vulnerable) arboreal marsupial, endemic to the biodiversity hotspot region of south-west of Western Australia. The markers were developed to obtain population genetic data to quantify any changes which may be associated with increasing geographical fragmentation. We describe the diversity among 66 unrelated (adult) P. occidentalis individuals. Overall, the markers produced between three to eight alleles per locus and observed and expected heterozygosities of 59% and 69%, respectively. Due to predation by introduced foxes, urban encroachment changes in fire regime and the resultant levels of fragmentation in its range, these microsatellite markers are an important tool for evaluating population genetic information and for prioritising populations for conservation management.     

Serum estradiol as an aid in the diagnosis of ectopic pregnancy.

The value of serum beta-hCG measurement in the diagnosis of ectopic pregnancy is well established, and there have been recent studies on the use of serum progesterone levels. However, we have been unable to find any reports on the potential application of serum estradiol (E2) assays in the diagnosis of ectopic pregnancy. We therefore concurrently measured serum E2, progesterone, and beta-hCG in 100 women with ectopic pregnancies, as well as in 69 controls with normal intrauterine pregnancies and 36 women with threatened abortion. The mean (+/- standard deviation) E2 levels for ectopic-pregnancy patients, the normal controls, and the women with threatened abortion were 281.1 +/- 115.6, 788.2 +/- 45.5, and 788.8 +/- 40.6 pg/mL, respectively; the mean levels in the ectopic group were significantly different (P less than .0001) from those of the other two groups. All but one of the ectopic pregnancies had values below 650 pg/mL for E2 and 23 ng/mL for progesterone, and all but one of the normal intrauterine pregnancies had values above these levels. Our data suggest that the addition of the estradiol assay, with or without progesterone, to the early evaluation of patients suspected of having an ectopic pregnancy may be helpful in diagnosis.     

Workplace conflict resolution and the health of employees in the Swedish and Finnish units of an industrial company

New patterns of working, the globalisation of production and the introduction of information technologies are changing the way we work. This new working environment has eliminated some risks whilst introducing others. The importance of the psychosocial working environment for the health of employees is now well documented, but the effects of managerial style have received relatively little attention. Yet management is an increasingly important aspect of companies' policies. In this paper, we examine the relationship between conflict management in the workplace and self-reported measures of stress, poor general health, exhaustion and sickness absence due to overstrain or fatigue. Our sample consists of non-supervisory employees (N = 9309) working in the Swedish and Finnish plants of a multinational forestry company who were surveyed in 2000. Bivariate analyses show that those who report that differences are resolved through discussion are least likely to report stress, poor general health, exhaustion or sickness absence. Those who report that authority is used or that no attempts are made to resolve differences have quite similar rates across all measures. Binary logistic regression analyses were performed for all health outcomes controlling for age, sex, occupational group, job complexity, job autonomy and support from superiors. Results show significantly lower likelihoods of reporting stress, poor general health, exhaustion or sickness absence amongst employees who report that differences of opinion are resolved through discussion compared to those who report that no attempts are made. No significant differences were found between those who reported that differences were resolved through use of authority and subjects in the 'no attempt' category. These results suggest that the workplace conflict resolution is important in the health of employees in addition to traditional psychosocial work environment risk factors.