نتایج جستجو برای: allele sharing ibd
تعداد نتایج: 242518 فیلتر نتایج به سال:
Background: Inflammatory bowel diseases (IBDs), which include ulcerative colitis (UC) and Crohn’s disease (CD), are inflammatory disorders that affect the gastrointestinal tract. A combination of inflammatory cytokines has an important role in IBD development. Genome-wide association studies have shown that polymorphisms in the interleukin-23R gene (IL-23R) increase susceptibility to IBD....
In gene mapping, after an initial genome-wide linkage scan, the next step often involves candidate region studies or fine mapping using dense markers. Dense genotyping, however, introduces linkage disequilibrium (LD). Traditional linkage analysis assuming no LD leads to increased false positive rates. Hence, we develop models to incorporate linkage disequilibrium, focusing on the sib pair desig...
We analyze some aspects of Scan statistics, which have been proposed to help detect weak signals in linkage analysis. For dense markers we derive approximations for the thresholds to control the genome wide false positive rate and for the power of a test based on moving averages of the identity-by-descent (IBD) allele sharing proportions for pairs of relatives at several contiguous markers. We ...
Widespread sharing of long, identical-by-descent (IBD) genetic segments is a hallmark of populations that have experienced recent genetic drift. Detection of these IBD segments has recently become feasible, enabling a wide range of applications from phasing and imputation to demographic inference. Here, we study the distribution of IBD sharing in the Wright-Fisher model. Specifically, using coa...
The basic idea of affected-sib-pair (ASP) linkage analysis is to test whether the inheritance pattern of a marker deviates from Mendelian expectation in a sample of ASPs. The test depends on an assumed Mendelian control distribution of the number of marker alleles shared identical by descent (IBD), i.e., 1/4, 1/2, and 1/4 for 2, 1, and 0 allele(s) IBD, respectively. However, Mendelian transmiss...
High-throughput single nucleotide polymorphism genotyping assays conveniently produce genotype data for genome-wide genetic linkage and association studies. For pedigree datasets, the unphased genotype data is used to infer the haplotypes for individuals, according to Mendelian inheritance rules. Linkage studies can then locate putative chromosomal regions based on the haplotype allele sharing ...
Inflammatory bowel disease (IBD) is a complex, multifactorial, chronic inflammatory disorder of the gastrointestinal tract in which immune dysregulation caused by genetic and/or environmental factors plays an important role. The aim of this case-control study was to evaluate the association of tumor necrosis factor-alpha (TNF-α) (308) and -β (+252) polymorphisms with susceptibility of IBD. A to...
BACKGROUND The association of DLG5 R30Q with IBD has been replicated in several populations, but is not statistically significant in others. We studied the incidence of DLG5 alleles in a population of IBD patients from Pennsylvania. METHODS DLG5 R30Q (rs1248696) and G1066G (rs1248634) were analyzed with PCR-based RFLP methods in a total of 521 subjects, that included 105 individuals with IBD ...
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