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At least 73 records · Page 4Linked to original sources

Meta-analysis of linkage data under worst-case conditions: a demonstration using the human OB region.

To date, few methods have been developed explicitly for meta-analysis of linkage analyses. Moreover, the methods that have been developed or suggested generally depend on certain ideal situations and have not been widely applied. In this article, we apply standard statistical theory and meta-analytic techniques in novel ways to five published papers discussing the evidence of linkage of body mass index (BMI) to the region of the human genome containing the OB gene. These methods are "inference based," meaning that they allow one to make statements about the statistical significance of the entire body of evidence. As currently developed, they do not allow specific statements to be made about the amount of variance explained by any putative locus or allow precise confidence intervals to be placed around the putative location of a linked locus. By applying these techniques to the literature on linkage in the human OB gene region, we are able to show that the evidence for linkage somewhere in the region is extremely strong (P = 1.5 x 10[-5]).

Body Mass Index↗

Use of linkage data obtained in single families: prenatal diagnosis of a new X-linked mental retardation syndrome.

Prenatal diagnosis was requested by an obligate carrier of a new syndrome of X-linked mental retardation. There was close linkage between the disease gene and the hypervariable VNTR marker DXS255 with a lod score of 4.82 at o = 0 (90% support interval 0.00-0.12). When the request for prenatal diagnosis was made, additional family members were examined, resulting in an amended lod score of 6.71 at o = 0.0 (90% support interval 0.00-0.09). There were no informative flanking markers at the time of the request for prenatal diagnosis; hence it proceeded by 2 point linkage analysis. The fetus was female with a carrier risk in the interval of 91-100%. Given the limitations of the mapping data available for this disorder at the time of the request, the options of accepting or rejecting this as a case for prenatal diagnosis were carefully considered. Whilst prenatal diagnosis based on fetal sexing would be sufficient to prevent the birth of an affected child, the magnitude of the known two-point lod score between DXS255 and the disease gene provided a means for diagnosis with an accuracy between 91 and 100%.

Female↗

Oral polio vaccine and intussusception: a data linkage study using records for vaccination and hospitalization.

The authors investigated the possibility of an association between oral polio vaccine (OPV) and intussusception by linking Scottish vaccination and hospitalization data sets and performing self-controlled case series analysis. The issue was important because rotavirus vaccine, another live oral virus vaccine, was withdrawn from the market in 1999 after studies showed a strong association with intussusception. OPV was recommended for all infants in the United Kingdom at ages 2, 3, and 4 months until 2004, when new combination vaccines containing inactivated poliovirus were introduced. Analysis was carried out for 466 intussusception cases occurring in 1987-1999 for which linked records on OPV vaccination were available. Six possible risk periods for intussusception, ranging from 3 days after vaccination to 41 days after vaccination, were examined, with separate analysis for each of the three OPV doses and also for data on all three doses combined. Of the 24 possible risk periods examined, the relative incidence of intussusception after vaccination was unchanged for 18, significantly decreased for five, and significantly increased for only one. The authors conclude that overall, there is no evidence for an association between OPV and intussusception, even when each dose is considered separately.

Hospitalization↗

Connecting hospital and community care: the acceptability of a regional data linkage scheme.

Lack of information on an individual's premorbid needs and services in place can impede the transition from community to acute care. We report on a trial of an electronic data linking system between Flinders Medical Centre and Metropolitan Domiciliary Care. A sample of 82 medical, nursing and allied-health staff across the organisations completed questionnaires concerning their level of satisfaction with the trialled system. Results supported the effectiveness of an electronic data linking system across the hospital-community interface. This system was effective in reducing labour costs, increasing organisational communication and devising appropriate discharge plans. Community staff indicated they were better informed about their client's medical and disability status and were able to play an active role in their client's treatment. This study provides more support to the implementation of a patient electronic data linking system focussed on older patients, with wider benefits including the reduction of unnecessarily long admission times and decreased demand on hospital beds.

Aged↗

Gene frequencies and linkage data on EsD in man.

Gene frequencies of the esterase D system were estimated in a sample of 1,392 unrelated adults living in Copenhagen; the results were EsD1 = 0.896 and EsD2 = 0.104. No genetic linkage could be demonstrated between this system and a series of autosomal makers.

Erythrocytes↗

Efficiency of lod scores for representing multiple locus linkage data.

The problem of compact, fully efficient representation of multilocus data has not yet been solved. Lod scores can be used to map multilocus data, but because of certain statistical problems, this method loses some information. However, simulation studies show that for distances less than 10 or 20 cMo, where there is little danger of huge overestimates of distance, the lod score method yields estimators just as good as maximum likelihood (ML). Since short distances are the most important, the lod method is quite efficient. Its main drawback is misrepresentation of the likelihood under wrong gene orders. This problem can be ameliorated with a single multipoint calculation under each order. Thus, representation of multipoint data with lod scores can be very practical.

Biometry↗