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PubMed2006

Covariate analysis of late-onset Alzheimer disease refines the chromosome 12 locus.

Alzheimer disease (AD) is a progressive neurodegenerative disorder of later life with a complex etiology and a strong genetic component. Several genomic screens have suggested that a region between chromosome 12p13 and 12q22 contains at least one additional locus underlying the susceptibility of AD. However, localization of this locus has been difficult. We performed a 5 cM microsatellite marker screen across 74 cM on chromosome 12 with 15 markers in 585 multiplex families consisting of 994 affected sibpairs and 213 other affected relative pairs. Analyses across the entire data set did not reveal significant evidence of linkage. However, suggestive linkage was observed in several subsets. In the 91 families where no affected individuals carry an ApoE varepsilon4 allele, an HLOD score of 1.55 was generated at D12S1042. We further examined the linkage data considering the proposed linkages to chromosome 9 (D9S741) and chromosome 10 (alpha-catenin gene). There was a modest (P=0.20) increase in the LOD score for D12S368 (MLOD=1.70) when using the D9S741 LOD scores as a covariate and a highly significant (P<0.001) increase in the MLOD score (4.19) for D12S1701 in autopsy-confirmed families (n=228) when using alpha-catenin LOD scores as a covariate. In both cases, families with no evidence of linkage to D9S741 or alpha-catenin demonstrated most of the evidence of linkage to chromosome 12, suggesting locus heterogeneity. Taken together, our data suggest that the 16 cM region between D12S1042 and D12S368 should be the subject of further detailed genomic efforts for the disease.

Age of Onset↗

PubMed1999

International economic analysis of primary prevention of cardiovascular disease with pravastatin in WOSCOPS. West of Scotland Coronary Prevention Study.

AIMS: The results of the West of Scotland Coronary Prevention Study (WOSCOPS) demonstrated the clinical benefit of using pravastatin for the primary prevention of cardiovascular disease in hypercholesterolaemic men. To inform decision makers, who must also consider costs, this study assesses the economic efficiency of such an intervention in a broad range of countries. METHODS AND RESULTS: A generalized model of cardiovascular disease prevention was used to estimate the cost-effectiveness of primary prevention with pravastatin compared to diet alone. This model follows a cohort of hypercholesterolaemic men over a given period quantifying the effect in terms of the avoidance of cardiovascular disease based on treatment-specific risks derived from WOSCOPS data and extensive record-linkage data on disease-specific survival. Country-specific costs are accounted for by expressing all such parameters in terms of the ratio of monthly treatment to that of managing a myocardial infarction. Over a broad range of inputs the cost-effectiveness ratios remain below $25,000 per life years gained, regardless of country. Subgroups with even better economic efficacy can be defined on the basis of higher baseline risk. CONCLUSIONS: In contrast to some previous reports, this analysis based on trial data demonstrates that pravastatin provides not only an effective means of primary cardiovascular disease prevention, but also an efficient one.

Aged↗

PubMed2006

Effect of social deprivation on mortality and the duration of hospital stay after a stroke.

BACKGROUND: We aim to assess whether social deprivation independently predicts case fatality after a stroke patient has been admitted to hospital, and to assess whether social deprivation affected duration of hospital stay. METHODS: Cohort study in a tertiary teaching hospital included consecutive patients admitted to hospital within 48 h of their stroke between 1988 and 1994. Outcome measures were case fatality at 1 year and length of hospital stay. The socioeconomic category was derived from the postcode sector of residence for the patients (Carstairs index). Cause of death was determined by data linkage to the Registrar General data for Scotland. RESULTS: 2,042 stroke patients were included. A significant age difference existed between the deprivation categories (76.0 +/- 10.9 years in the affluent cohort vs. 71.4 +/- 10.7 years in the deprived cohort). Smoking was more common in the deprived group. ECG findings and neurological score on admission were similar between the groups. No difference existed between groups for length of hospital stay (p = 0.793), and in the proportions remaining alive at 1 year (p = 0.416). When entered into a multivariate Cox regression analysis, the deprivation categories did not predict mortality. Age, sex, Philadelphia Geriatric Center Instrumental Activities of Daily Living (IADL) Scale Score, Orgogozo neurological score on admission, and ECG abnormalities were the significant predictors. CONCLUSIONS: Stroke patients living in more socially deprived areas had their strokes at an earlier age but were not at a greater risk of dying or longer hospital stay once they had been admitted to hospital.

Aged↗

PubMed1988

A genetic study of Gardner syndrome and congenital hypertrophy of the retinal pigment epithelium.

Gardner Syndrome (GS) is an autosomal dominant variant of colorectal polyposis with essentially complete penetrance. It is distinguished from the other polyposis syndromes by its delayed age at onset, the number of polyps, and its extracolonic manifestations. The presence of epidermal cysts, bony osteomata, desmoid tumors, and dental anomalies are distinguishing features of this syndrome. Recently, multiple and bilateral patches of congenital hypertrophy of the retinal pigment epithelium (CHRPE) have been described in three families with classical GS. Tight linkage of the GS and CHRPE phenotypes (Z = 9.752; theta = 0) suggested that CHRPE is a pleiotropic effect of the Gardner mutation within the families in which the ophthalmic trait occurs and is thus a useful marker for the early detection of GS gene carriers. We have analyzed six new families segregating for classic GS and CHRPE. Linkage was tested between GS and CHRPE and between these two phenotypes and a battery of 22 informative biochemical and serological markers. We have extended the linkage analysis on two GS-CHRPE families originally reported elsewhere. Linkage between GS and CHRPE at theta = 0 was observed in all families, a result supporting our original suggestion that CHRPE is a congenital manifestation of the GS mutation. Exclusionary linkage data presented confirm that, for linkage analysis in these families, the CHRPE phenotype is a more powerful marker than other phenotypic features of GS.

Adolescent↗

PubMed1998

Bipolar disorder and panic disorder in families: an analysis of chromosome 18 data.

OBJECTIVE: The authors performed an analysis of their published chromosome 18 linkage data on 28 families in which there was bipolar disorder to test the potential of comorbid panic disorder to define a genetic subtype of bipolar disorder. METHOD: Families ascertained through probands with bipolar I disorder were stratified into three groups based on a history of panic disorder, panic attacks, or no panic attacks in the probands. Multipoint nonparametric linkage analysis was performed on data from bipolar I and II family members in each group. RESULTS: Linkage scores for five consecutive 18q marker loci were highest in the families of the probands with panic disorder and lowest for the families of the probands without panic attacks. CONCLUSIONS: This study supports the authors' previously reported clinical hypothesis of a genetic subtype of bipolar disorder identified by comorbid panic disorder. The hypothesis merits prospective testing.

Adult↗

PubMedDate not supplied

DNA linkage analysis of 26 families with fragile X syndrome.

Linkage data using the markers F9 (factor IX), DXS105 (cX55.7), DXS98 (4D-8), DXS52 (St14), DXS15 (DX13), and DXS134 (cpX67) are presented from 26 pedigrees segregating with fragile X (fra[X]) syndrome. Cytogenetic and DNA data were combined in 2-point linkage analysis for the estimation of lod scores and carrier probabilities in potential carriers. Recombination fractions (theta) corresponding to the maximum lod scores (Z) were obtained for F9 (Z = 2.78, theta = 0.15), DXS105 (Z = 1.72, theta = 14), DXS98 (Z = 3.74, theta = 0.00), DXS52 (Z = 3.53, theta = 0.17), DXS15 (Z = 4.03, theta = 0.11), and DXS134 (Z = 2.12, theta = 0.16) and for the fragile X locus (FRAXA). Recombination fractions between marker loci in the families are also presented. Discordance between the results of cytogenetic and DNA analyses in 2 potential carrier females was investigated by reexamination of the fragile site expression and was concluded to be due to the expression of the common fragile site at Xq27.2.

DNA↗

PubMed1985

Definitive localization of Becker muscular dystrophy in Xp by linkage to a cluster of DNA polymorphisms (DXS43 and DXS9).

A study of linkage between Becker muscular dystrophy and four X chromosome-specific DNA polymorphisms in 17 kindreds has indicated that this gene is located in Xp, as already anticipated by single pedigree analysis. In particular the DXS43 and DXS9 loci, identified by probes D2 and RC8, respectively, are closely linked to each other and are both located at approximately 15 cM from the Becker locus. These linkage data, together with the previously established linkage between Becker and the DXS7 locus identified by probe L 1.28, indicate that the Becker gene is located in the same region where Duchenne has been mapped and also yield information about relative genetic distances among different DNA polymorphisms of the X chromosome.

Alleles↗

PubMed2005

Drinking patterns and traffic casualties in Switzerland: matching survey data and police records to design preventive action.

OBJECTIVE: To examine the association between drinking patterns and alcohol-related traffic casualties. STUDY DESIGN: Data linkage of cross-sectional survey data on alcohol consumption with official traffic casualty records. METHODS: Alcohol consumption measures for usual heavy drinking and risky single occasion drinking were derived for different time segments of the day from a 7-day drinking diary study of 747 current drinkers. Measures were correlated with official records of alcohol-related traffic casualties. RESULTS: There was a high correlation between alcohol-related traffic casualties and the number of risky single occasion drinkers that consumed alcohol outside their homes (r=0.92). On average, about 50% of these drinking occasions were attributed to usual moderate drinkers. The proportion of usual heavy drinkers was lowest in the time segments with the most alcohol-related casualties. CONCLUSION: Preventive countermeasures should be targeted at the general population, enforced particularly during specific periods of the week.

Accidents, Traffic↗

PubMed1979

Chromosomal homology of rabbit (Oryctolagus cuniculus) linkage group VI with rodent species.

Homologous portions of linkage group (LG) VI in the rabbit Oryctolagus cuniculus, chromosome 8 in Mus musculus, and LG V of Rattus norvegicus have been observed. These linkage groups in Oryctolagus and Mus contain the extension locus (e), where recessive alleles are known in many species. Preliminary linkage data have added new loci to linkage group VI of the rabbit, revised the order and map distances on the linkage map, and by comparison with rodent species have strengthened the homology of LG VI in the rabbit with chromosome 8 of the mouse and with LG V of the rat. LG VI now contains five loci with the following order and intervening map distances: Es-1, Es-2 complex--6.3 +/- 2.1 cM--Est-1, Est-2 complex--18.5 +/- 3.7 cM--e.

Animals↗

PubMed1981

Family studies on nucleoside phosphorylase and the short arm of chromosome 14.

A family with two nucleoside phosphorylase-deficient patients has been scored for the segregation of NP0 and the variable region 14p. The mose likely 14p:NP recombination fraction is 0.15 in males and 0.30 in females. There is no family data to assign the Pi:Gm linkage group to chromosome 14, but as immunoglobulin heavy chain has been assigned to this chromosome by somatic cell methods the most likely gene order is 14p:NP:Pi:Gm with Pi in 14q2 and Gm in 14(q23 leads to q32), but the order 14p:NP:Gm:Pi with Pi in 14(q24 leads to qter) and Gm in 14(q22 leads to q24) is not excluded. The available linkage data between biochemical markers on acrocentric chromosomes and their short arm markers suggest that there may be more recombination towards the ends of human chromosomes whether or not those ends carry centromeres.

Child↗

PubMed1989

Some simple methods for linkage analysis.

A method of analysis of suitable many-locus linkage data used by Fisher in 1922 is re-examined in detail, and it is pointed out that it could be used also in human genetics as a simple method for preliminary examination of data.

Animals↗

PubMed1988

Linkage analysis using multiple DNA polymorphic markers in normal families and in families with fragile X syndrome.

Linkage data, using the polymorphic markers 52A (DXS51), F9, 4D-8 (DXS98), and St14 (DXS52), are presented from 14 fragile X pedigrees and from 7 normal pedigrees derived from the collection of the Centre d'Etude du Polymorphisme Humaine. A multipoint linkage analysis indicates that the most probable order of these four loci in normal families is DXS51-F9-DXS98-DXS52. Recombination frequencies (theta) corresponding to maximum LOD scores (Z) were obtained by two-point linkage analysis for a number of linkage groups, including: DXS51-F9 (Z = 5.94, theta = 0.03), F9-DXS98 (Z = 0.51, theta = 0.26), F9-DXS52 (Z = 0.84, theta = 0.27), and DXS98-DXS52 (Z = 0.32, theta = 0.20). A multipoint linkage analysis of these loci, including the fragile X locus, was also performed for the fragile X population and the data support the relative order (DSX51, F9, DXS98)-FRAXA-DXS52. Recombination frequencies and maximum LOD scores, which again were derived from two-point linkage analyses, were obtained for the linkage groups DXS51-F9 (Z = 9.96, theta = 0) and F9-DXS52 (Z = 0.07, theta = 0.45) as well as for the groups DXS51-FRAXA (Z = 2.42, theta = 0.15), F9-FRAXA (Z = 1.30, theta = 0.18), DXS98-FRAXA (Z = 0.05, theta = 0.36), and DXS52-FRAXA (Z = 2.42, theta = 0.15). The linkage data was further tested for the presence of genetic heterogeneity both within and between the fragile X and normal families for the intervals DXS51-F9, F9-DXS52, F9-FRAXA, and DXS52-FRAXA using a modification of the A test. Except for the interval F9-FRAXA (P less than 0.10) there was no evidence of genetic heterogeneity for each of the various linkage groups examined. The heterogeneity detected for the interval F9-FRAXA, however, was most likely due to one family (Fx-28) that displayed very tight linkage between these two loci.

Cells, Cultured↗

PubMed1998

Using the SARs to add policy value to household projections.

"Household projections are at the centre of the debate about future housing requirements in England. The Census of Population Sample of Anonymised Records offers actual and potential opportunities to ¿add value' to traditional projections. This article gives examples of such added value, including testing definitional sensitivity of projection outcomes, assisting further detailed disaggregation of projected components, assisting the matching of household projections to dwelling supply, and offering scope to explore via data linkage the relationships between household projections and ¿backlog' housing needs, affordability, dwelling size, and tenure."

Data Collection↗

PubMed2005

Proposal for the creation of a European healthcare identifier.

In France, the European health card was created in June 2004 to increase the quality of healthcare granted to european citizen anywhere in europe and to facilitate the reimbursement of the healthcare costs. The patient identifier included in this card is essentially based on the healthcare insurance number of the patient and does not allow any linkage with his (her) previous health care data if he (she) is affiliated to another national healthcare insurance system when working for a long duration outside France. The purpose of this paper is to present the concept of a personal identifier based on familial components which has been validated by the French authority for personal data protection in the framework of a genetic study. Results issued from the Burgundy perinatal network demonstrate the interest and the faisability of adding a maternal component to the individual component of the new-born to allow Mother/new-born healthcare data linkage after anonymization. The advantage of adding a familial component to the healthcare insurance number is debated. This proposal will permit to link the data of a patient even when residing outside his country in Europe. It will also contribute to establish european public health statistics by matching healthcare data of the patients' records with other administrative data (mortality, social information ..) after anonymisation of these data in accordance with the European directive on data protection.

Computer Security↗

PubMed1998

A radiation hybrid map of BTA23: identification of a chromosomal rearrangement leading to separation of the cattle MHC class II subregions.

Bovine chromosome 23 (BTA23) contains the bovine major histocompatibility complex (MHC) and is thus of particular interest because of the role of MHC genes in immunity. Previous studies have shown cattle MHC class II genes to be subdivided into two distinct subregions separated by a variable genetic distance of 15-30 cM. To elucidate the genetic events that resulted in the present organization of the class II and other MHC genes, a framework radiation hybrid (RH) map of BTA23 was developed by testing DNA samples from a 5000 rad whole genome RH panel. Twenty-six markers were screened with an average retention frequency of 0.27, ranging from 0.14 to 0.42. Total length of the chromosome was 220 cR5000, with 4.1 cR5000/cM when compared to linkage data. Gene orders for the markers common to both the RH framework map and the consensus framework linkage map are identical. Large centiray intervals, D23S23-D23S7, DYA-D23S24 and CYP21-D23S31, were observed compared to linkage distances. These data may indicate a much larger physical distance or suppression of recombination in the interval separating the class II subregions and also within the class I region than previously estimated. Comparison of 13 Type I genes conserved between BTA23 and the human homolog HSA6p suggests the occurrence of an inversion encompassing the centromeric half of the bovine chromosome, thus explaining the large distance between the bovine class IIa and IIb clusters. These results exemplify the power of RH mapping in solving problems in comparative genomics and evolution. Furthermore, noncongruence of the genetic and physical RH map distances indicates that caution must be observed in using either resource alone in searching for candidate genes controlling traits of economic importance.

Animals↗

PubMed1980

Generalized transduction in Rhizobium meliloti.

The phage 11 of R. meliloti performs generalized transduction. This was confirmed by the variety of single markers transferred and by separating transducing particles containing BUdR-labelled bacterial DNA. The transduction frequencies depended on the marker. Linked alleles were mapped by cotransduction on fragments of bacterial DNA equal in size to the phage DNA. With crosses between antibiotic resistancy and auxotrophic markers a partial map was constructed with str, cml, pur-19, and leu-44 sites. With a few multi-auxotrophic mutants linkage data of conjugation were compared with the linkage by cotransduction.

Bacteriophages↗

PubMed1988

Mapping of the Emery-Dreifuss gene through reconstruction of crossover points in two Italian pedigrees.

Two unrelated pedigrees, which show recurrence of Emery-Dreifuss muscular dystrophy (EDMD) in three generations, have been studied using 13 X-linked DNA polymorphisms and somatic cell hybrids to establish the phase of the corresponding alleles in some obligate carriers. The reconstruction of cross-over points on the X chromosomes carrying the EDMD gene excludes from mapping most regions of the X chromosome except for the terminal portion of Xq. Pooled linkage data from the two pedigrees confirm the linkage previously reported with locus DXS15. A cross-over in a carrier female suggests that the EDMD gene is probably located distally to DXS15. In addition the recombinant meioses from one of the two pedigrees suggest the following order for some Xq polymorphic loci: DXS1 (DXYS1-DXS178) DXS42 (F9-DXS15).

Chromosome Mapping↗

PubMed1983

Genetics of octanol and alpha-glycerophosphate dehydrogenases in the mosquito Aedes (Finlaya) togoi.

Genetic studies were performed on octanol dehydrogenase (EC 1.1.1.73) and alpha-glycerophosphate dehydrogenase (EC 1.1.1.8) in the mosquito Aedes (Finlaya) togoi by agar gel electrophoresis. The electrophoretic survey revealed two octanol dehydrogenase loci (Odh-1, Odh-2) and one alpha-glycerophosphate dehydrogenase locus (alpha-Gpdh) in this species. Five alleles were observed at the Odh-2 locus in seven laboratory strains, whereas the alpha-Gpdh locus was completely monomorphic in six of seven strains examined and the second allele at this locus was detected in only one strain at a frequency of 0.14. Both loci code for dimeric enzymes. Linkage studies on Odh-2 and alpha-Gpdh suggested that the gene arrangement and recombination units were Odh-2--(25.8)--M (sex locus)--(30.5)--s (strawcolored larva) and M--(25.6)--alpha-Gpdh--(15.4)--s. These results, together with linkage data previously reported, give the following gene linkage on the sex chromosome: Odh-2--Est-3 (carboxylesterase)--Acph (acid phosphatase)--M--alpha-Gpdh--s--Est-2 (carboxylesterase). The total map length of this arrangement is approximately 75 map units.

Aedes↗