The Edinburgh Post-natal Depression Scale (EPDS) was validated on a community sample of 702 women at six weeks post-partum using Research Diagnostic Criteria for depression. The estimates of sensitivity, specificity and positive predictive value, being based on a large random sample, offer improved guidelines for the use of the EPDS by the primary care team.
The autosomal dominant syndrome of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) is due to germline DNA mismatch repair gene mutations in most cases. However, the penetrance of such mutations outwith classical HNPCC kindreds is unknown because families studied to date have been specifically selected for research purposes. Using a population-based strategy, we have calculated the lifetime cancer risk associated with germline DNA mismatch repair gene mutations, irrespective of their family history. We identified 67 gene carriers whose risk to age 70 for all cancers was 91% for males and 69% for females. The risk of developing colorectal cancer was significantly greater for males than for females (74% versus 30%, P= 0.006). The risk of uterine cancer (42%) exceeded that for colorectal cancer in females, emphasising the need for uterine screening. Our findings give further insight into the biological effect of defective DNA mismatch repair. We have demonstrated a systematic approach to identifying individuals at high risk of cancer but who may not be part of classical HNPCC families. The risk estimates derived from these analyses provide a rational basis on which to guide genetic counselling and to tailor clinical surveillance.
The difficulty of identifying susceptibility genes for common diseases has polarized geneticists' views on what disease models are appropriate and how best to proceed once high-density genome maps become available. Different disease models have different implications for using linkage or linkage-disequilibrium-based approaches for mapping complex disease genes. We argue that the choice of study population is a critical factor when designing a study, and that genetically simplified isolates are more useful than diverse continental populations under most assumptions.
There is a marked variation in whether people retain sufficient cognitive function to maintain their quality of life and independence in old age, even among those without dementia, so it would be valuable to identify the determinants of normal age-related cognitive change. We have retested non-demented 80-year-olds who were participants in the Scottish Mental Survey of 1932, and find that the variation in their non-pathological cognitive change from age 11 to 80 is related to their apolipoprotein E (APOE) genotype. This effect of the APOE epsilon 4 allele on normal cognitive ageing may be mediated by a mechanism that is at least partly independent of its predisposing effect towards Alzheimer's disease.
Melanocyte stimulating hormone (MSH) plays an important role in determining the cutaneous response to ultraviolet radiation and may also influence melanoma progression. We have previously shown that variants of the melanocortin receptor present on melanocytes, MC1R, are associated with sun sensitivity and red hair in a UK population and therefore now consider the gene as a candidate for melanoma susceptibility. We have compared the frequency of known MC1R variants in the second and seventh transmembrane domains in 43 melanoma cases and 44 controls. MC1R variants were more common in cases than controls (chi 2 = 6.75, 1 d.f.; P = 0.0094) with a relative risk to carriers of variant alleles compared with normal homozygotes of 3.91 (95% c.l.: 1.48-10.35), and a population risk attributable to carriers of 34.6% (95% c.i. 10.7-52.1%). The Asp84Glu variant was only present in melanoma cases and appears to be of particular significance. The contribution of variant MC1R alleles was largely independent of skin type. Variants of the MC1R gene are likely to be causally associated with the development of melanoma.
ABSTRACT-The idea that general intelligence may be more variable in males than in females has a long history. In recent years it has been presented as a reason that there is little, if any, mean sex difference in general intelligence, yet males tend to be overrepresented at both the top and bottom ends of its overall, presumably normal, distribution. Clear analysis of the actual distribution of general intelligence based on large and appropriately population-representative samples is rare, however. Using two population-wide surveys of general intelligence in 11-year-olds in Scotland, we showed that there were substantial departures from normality in the distribution, with less variability in the higher range than in the lower. Despite mean IQ-scale scores of 100, modal scores were about 105. Even above modal level, males showed more variability than females. This is consistent with a model of the population distribution of general intelligence as a mixture of two essentially normal distributions, one reflecting normal variation in general intelligence and one reflecting normal variation in effects of genetic and environmental conditions involving mental retardation. Though present at the high end of the distribution, sex differences in variability did not appear to account for sex differences in high-level achievement.
Perspectives on Psychological Science -November 2008 -In PressThe variability hypothesis, which posits that general intelligence may be more biologically variable in males than in females, has a long history in both scientific and political writings. In recent years, it has received renewed attention as an explanation for the presence of greater numbers of males than females in technology, engineering, and the highest levels of scientific research. As is often the case in areas of research involving demographic group differences, much of the literature has been emotionally charged, and the empirical data have often been ambiguous. Even when observed results have seemed clear, researchers have raised issues involving adequacy of overall sample size and differences in relative selectivity of male and female samples, relevant experiential background, participant responses to the testing situation, and rates of physical and
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