A whole genome screen for association in Polish multiple sclerosis patients

Bielecki, Bartosz; Mycko, Marcin P.; Tronczyńska, E.; Bieniek, Marek; Sawcer, Stephen; Setakis, Efrosini; Benediktsson, Kjartan; Compston, Alastair; Selmaj, Krzysztof

doi:10.1016/j.jneuroim.2003.08.022

Cited by 12 publications

(5 citation statements)

References 24 publications

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“…While testing for a solitary single nucleotide change, one predominately utilizes other molecular test methodologies, such as RFLP, real-time PCR, and melting curve analysis, the ability of high-throughput whole genome scanning for SNPs and linkage analysis is possible with CE [290,[304][305][306]. Commercially available kits for linkage analysis have enabled whole genomic scanning at moderate resolution using microsatellite markers.…”

Section: High-throughput Genetic Scanning and Linkage Analysismentioning

confidence: 99%

Capillary electrophoresis and the clinical laboratory

et al. 2006

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Over the past 15 years, CE as an analytical tool has shown great promise in replacing many conventional clinical laboratory methods, such as electrophoresis and HPLC. CE's appeal was that it was fast, used very small amounts of sample and reagents, was extremely versatile, and was able to separate large and small analytes, whether neutral or charged. Because of this versatility, numerous methods have been developed for analytes that are of clinical interest. Other than molecular diagnostic and forensic laboratories CE has not been able to make a major impact in the United States. In contrast, in Europe and Japan an increasing number of clinical laboratories are using CE. Now that automated multicapillary instruments are commercially available along with cost-effective test kits, CE may yet be accepted as an instrument that will be routinely used in the clinical laboratories. This review will focus on areas where CE has the potential to have the greatest impact on the clinical laboratory. These include analyses of proteins found in serum and urine, hemoglobin (A1c and variants), carbohydrate-deficient transferrin, forensic and therapeutic drug screening, and molecular diagnostics.

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Section: High-throughput Genetic Scanning and Linkage Analysismentioning

confidence: 99%

Capillary electrophoresis and the clinical laboratory

et al. 2006

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“…The genome wide linkage analysis has been used to study the genetic component of MS since the mid 1990s. So far with the aid of this approach 19 studies have been carried out (Abdeen et al, 2006;Akesson et al, 2002;Ban et al, 2002;Bielecki et al, 2003;Broadley et al, 2001;Coraddu et al, 2001Coraddu et al, , 2003Ebers et al, 1996;Eraksoy et al, 2003;Goris et al, 2003;Haines et al, 1996;Hensiek et al, 2003;Kenealy et al, 2004;Kuokkanen et al, 1997;Liguori et al, 2003;Santos et al, 2003;Sawcer et al, 1996;Yeo et al, 2003). The linkage analysis is based on the detection of the highly polymorphic microsatellite repeats dispersed through the genome.…”

Section: Methods Used To Study Genetic Associations With Multifactorimentioning

confidence: 99%

Genetics of multiple sclerosis today

et al. 2016

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Multiple sclerosis is a common multifactorial disease in which the etiology of the interaction between external factors and structural specificities of a large number of genes plays an important role. Iden tification of the risk factors for multiple sclerosis and the development of an integrated pathogenesis model is a challenging task for neurology. The goal of the current review is to describe current approaches to studying the genetics of multifactorial diseases on the whole and multiple sclerosis in particular. Basic approaches to the design of the genetic epidemiological studies are described. Towards this end we discuss the gene candi date and the whole genome methods of studying genetic associations, the statistical approaches used to com bine the diverse data, namely, meta analysis of the results of different studies, analysis of the association with groups of functionally related genes, and comparison of the genetic bases of the diseases with similar patho genesis.

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“…In total, the GAMES collaborative screened 19 casecontrol cohorts and 10 trio family based cohorts (Sawcer and Compston, 2003) as described in the original publications: Australia (Ban et al, 2003), Belgium (Goris et al, 2003), Finland (Laaksonen et al, 2003), France (Alizadeh et al, 2003), Germany1 (Goedde et al, 2002), Germany2 (Weber et al, 2003), Hungary (Rajda et al, 2003), Iceland (Jonasdottir et al, 2003), Ireland (Heggarty et al, 2003), Italy (Liguori et al, 2003), Poland (Bielecki et al, 2003), Portugal1 (Santos et al, 2003), Portugal2 (Martins Silva et al, 2003, Sardinia (Coraddu et al, 2003), Scandinavia (Harbo et al, 2003), Spain (Goertsches et al, 2003), Turkey (Eraksoy et al, 2003) and UK (Sawcer et al, 2002). Table 1 summarizes the number of markers successfully analyzed in each cohort studied, as well as the number of samples in each pool.…”

Section: The Games Screensmentioning

confidence: 99%

Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in Europeans

Ban¹,

Booth²,

Heard³

et al. 2006

Journal of Neuroimmunology

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By combining all the data available from the Genetic Analysis of Multiple sclerosis in EuropeanS (GAMES) project, we have been able to identify 17 microsatellite markers showing consistent evidence for apparent association. As might be expected five of these markers map within the Major Histocompatibility Complex (MHC) and are in LD with HLA-DRB1. Individual genotyping of the 12 non-MHC markers confirmed association for three of them--D11S1986, D19S552 and D20S894. Association mapping across the candidate genes implicated by these markers in 937 UK trio families revealed modestly associated haplotypes in JAG1 (p=0.019) on chromosome 20p12.2 and POU2AF1 (p=0.003) on chromosome 11q23.1.

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A whole genome screen for association in Polish multiple sclerosis patients

Cited by 12 publications

References 24 publications

Capillary electrophoresis and the clinical laboratory

Capillary electrophoresis and the clinical laboratory

Genetics of multiple sclerosis today

Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in Europeans

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