نتایج جستجو برای: allele sharing ibd
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BACKGROUND AND PURPOSE The SNP R30Q (rs1248696) within the discs large homolog 5 (DLG5) gene has been associated with inflammatory bowel disease (IBD). In this study, we examined the genetic association of another DLG5 SNP P1371Q (rs2289310) with IBD and its interaction with R30Q in disease susceptibility. METHODS A total of 213 IBD patients [106 familial; 59 Crohn's disease (CD) and 47 ulcer...
In 153 patients with IBD, 64 with Crohn's disease (CD), and 89 with ulcerative colitis (UC), as well as in 54 healthy controls (HC), the frequencies of four known di-allelic polymorphisms in the genes for TNF-alpha and lymphotoxin alpha (LTalpha) were investigated. In the Dutch population, the alleles of these four polymorphisms are present in only five combinations, called TNF haplotypes: TNF-...
We present a method, fastIBD, for finding tracts of identity by descent (IBD) between pairs of individuals. FastIBD can be applied to thousands of samples across genome-wide SNP data and is significantly more powerful for finding short tracts of IBD than existing methods for finding IBD tracts in such data. We show that fastIBD can detect facets of population structure that are not revealed by ...
Identity by descent (IBD) inference is the task of computationally detecting genomic segments that are shared between individuals by means of common familial descent. Accurate IBD detection plays an important role in various genomic studies, ranging from mapping disease genes to exploring ancient population histories. The majority of recent work in the field has focused on improving the accurac...
The recent series of large genome-wide association studies in European and Japanese cohorts established that Parkinson disease (PD) has a substantial genetic component. To further investigate the genetic landscape of PD, we performed a genome-wide scan in the largest to date Ashkenazi Jewish cohort of 1130 Parkinson patients and 2611 pooled controls. Motivated by the reduced disease allele hete...
Dense genotype data can be used to detect chromosome fragments inherited from a common ancestor in apparently unrelated individuals. A disease-causing mutation inherited from a common founder may thus be detected by searching for a common haplotype signature in a sample population of patients. We present here FounderTracker, a computational method for the genome-wide detection of founder mutati...
Aims. Fucosyltransferase 2 (FUT2) gene potentially affects the constituent of intestinal microbiota, which play a crucial role in the pathogenesis of inflammatory bowel disease (IBD). This study investigated the association of FUT2 gene polymorphisms with IBD in southeast China. Methods. We collected 671 IBD patients and 502 healthy controls. FUT2 gene polymorphisms (C357T, A385T, and G428A) we...
Allele sharing method or trait-model-free approach is a robust technique for linkage detection. In allele sharing method, the association between the joint inheritance of the trait and a set of markers in pedigrees is studied without modelling the trait. This paper aims at an efficient implementation of allele-sharing method for binary trait in multi-generation pedigrees that includes construct...
The choice of allele-sharing statistics can have a great impact on the power of robust affected relative methods. Similarly, when allele-sharing statistics from several pedigrees are combined, the weight applied to each pedigree's statistic can affect power. Here we describe the direct connection between the affected relative methods and traditional parametric linkage analysis, and we use this ...
Intercellular adhesion molecule (ICAM)-1 is a single-chain cell surface glycoprotein that plays an important role in the recruitment of leukocytes at sites of inflammation and is up-regulated in intestinal mucosa of inflammatory bowel disease (IBD). ICAM-1 gene lies on chromosome 19p13, implicated in determining susceptibility to IBD. The human ICAM-1 gene contains two polymorphic sites in codo...
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