Ruth Hadfield

The international endogene study: a collection of families for genetic research in endometriosis

OBJECTIVEnThe aim of the International Endogene Study is to discover genes that influence susceptibility to endometriosis.nnnDESIGNnThe study brings together two research groups based in Australia and the United Kingdom that independently have been collecting families for linkage analysis and candidate gene studies. Both groups used similar methods to recruit families, obtain clinical notes, assign disease status based on the operative records and available histology, and collect common clinical data including age at onset of symptoms, age at diagnosis, and symptoms experienced.nnnSETTINGnRecruitment has been mainly from Australia, the United Kingdom, and the United States.nnnPATIENT(S)nAll affected participants have surgically confirmed disease.nnnINTERVENTION(S)nNone.nnnMAIN OUTCOME MEASURE(S)nClinical and epidemiological data.nnnRESULT(S)nTo date, >1,100 families with affected sisters have been recruited, and >1,200 triads (affected women and both parents), for case-control studies.nnnCONCLUSION(S)nWe have created the largest resource yet assembled of clinical data and DNA for linkage and association studies in endometriosis. The increase in power to detect susceptibility genes vindicates the decision to merge the two studies and demonstrates the value of large-scale international collaboration.

Magnetic resonance imaging to assess familial risk in relatives of women with endometriosis

In places where the population has shrunk, the average mortality is high compared with places in which the population has grown. The correlation between population change and all-cause standardised mortality ratios was –0·62 (p<0·001); for standardised mortality ratios for the male population, the correlation was –0·68 (p<0·001); and for the female population was –0·50 (p<0·001). All correlations were weighted by population size in 1991, but weighting made little difference to the findings. Analysis of male and female cause-specific mortality showed strong correlations between population change and most broad cause-of-death groups (accidental deaths excepted). To investigate whether the relation between population change and mortality merely reflects differences in degree of deprivation, we calculated partial correlations between allcause standardised mortality ratios in men and women together and population changes between 1971 and 1991, controlling for the proportion of the population in social classes IV and V or with unclassified social class in 1991. The correlation was weakened but remained substantial at –0·49 (p<0·001). Finally, we found the correlations between population change between 1971 and 1991 and change in standardised mortality ratio during 1969–73 and 1990–92 to be –0·37 (p<0·001), which suggests that change in population size and change in mortality accompany each other. Although most studies have tended to focus on economic factors (work and wages), people also move to improve their physical and social environment. The quality of life factors include issues such as cost of living, the image and ambience of a place, available amenities and services, notions of community, crime, pace of life, degrees of pollution, healthcare provision, and quality of housing. 2–4 These factors are thought to underlie differences in health statuses between areas, but they are not adequately indexed by conventional measures of deprivation. The people who remain in shrinking areas need environmental improvement and health services. At present, resources are allocated largely according to population size, and local and health authority budgets have therefore fallen most in these shrinking areas over time. New funding arrangements, such as health action zones 5 will not reverse this trend.

Age of onset of pain symptoms in non-twin sisters concordant for endometriosis

Analysis of the age of onset of pain symptoms in 83 sister-pairs concordant for endometriosis supports the suggestionthat endometriosis has a genetic basis.Key words: endometriosis/geneticsIntroductionThere is increasing evidence that genetic and environmentalfactors interact in the development of endometriosis, althoughthe precise aetiology of the disease remains uncertain. Agenetic susceptibility is likely as there is a familial tendency(Kennedy et al., 1995) and a 6-9 times increased prevalenceamong the first-degree relatives of affected women comparedto that of the general population (Simpson et al, 1980; Moenand Magnus, 1993). The major environmental factor that hasbeen implicated is exposure to pollutants such as dioxins andpolychlorodiphenyl compounds (PCBs). The incidence andseverity of spontaneous endometriosis in monkeys have bothbeen correlated with chronic dioxin exposure (Rier et al,1993), and some women with endometriosis have elevatedPCB concentrations in their blood (Gerhard and Runnebaum,1992). It has also been suggested that dioxin pollution couldbe an explanation for the higher prevalence of endometriosisin industrialized countries compared to the developing world(Koninckx et al, 1994).The aim of this study was to test two hypothetical modelsfor the aetiology of the disease by determining the age andyear of onset of symptoms in a cohort of non-twin sistersconcordant for endometriosis. The models were (i) commonexposure: sister-pairs would be expected to develop symptomsin the same year if they were commonly exposed to a causativeenvironmental agent with a fixed incubation time, and (ii)genetic: the age of onset of symptoms would tend to be thesame in both sisters if the disease had a purely genetic basis.We also analysed the age and year of surgical diagnosisand the interval between the onset of symptoms and theestablishment of the diagnosis.Materials and methods