Identification of novel susceptibility loci for inflammatory bowel disease on chromosomes 1p, 3q, and 4q: Evidence for epistasis between 1p and
            <i>IBD1</i>

Cho, Judy H.; Nicolae, Dan L.; Gold, Leslee H.; Fields, Carter T.; LaBuda, Michele C.; Rohal, Patrick M.; Pickles, Michael; Li, Qin; Fu, Yifan; Mann, Jasdeep; Kirschner, Barbara S.; Jabs, Ethylin Wang; Weber, James L.; Hanauer, Stephen B.; Bayless, Theodore M.; Brant, Steven R.

doi:10.1073/pnas.95.13.7502

Cited by 362 publications

(272 citation statements)

References 30 publications

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“…Chromosome 1q43-44 has been implicated in a genome screen of rheumatoid arthritis 25 as well as in three independent studies of systemic lupus erythematosus. [26][27][28] Chromosome 16q24 also showed evidence of linkage in inflammatory bowel disease 29 as well as two independent screens of rheumatoid arthritis, 25,30 and the region on 4q24 showed the strongest evidence of linkage outside the HLA region in a genome screen of rheumatoid arthritis. 25 In addition, the region of suggestive linkage on chromosome Xp11 overlaps with a region linked to insulin-dependent diabetes mellitus.…”

Section: Discussionmentioning

confidence: 92%

A genome screen for linkage in Australian sibling-pairs with multiple sclerosis

et al. 2002

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The role of genetic factors in determining susceptibility to multiple sclerosis is well established but, despite the global distribution of the disease, systematic efforts to locate susceptibility genes have concentrated exclusively on populations from the Northern Hemisphere. We performed a genome wide screen of linkage in the Australian population using a panel of 397 microsatellite markers in 54 affected sibling-pairs. Multipoint linkage analysis revealed four regions of suggestive linkage (on chromosomes 2p13, 4q26-28, 6q26 and Xp11) and 18 additional regions of potential linkage 4q24, 6q27, 9q21, 16p13, 16p11, 17p13, 18p11,. Our results contribute to the available data adding new provisional regions of linkage as well as increasing support for areas previously implicated in genetic susceptibility to multiple sclerosis.

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Section: Discussionmentioning

confidence: 92%

A genome screen for linkage in Australian sibling-pairs with multiple sclerosis

et al. 2002

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“…Chromosome region 1q31 has been implicated in linkage studies in lupus and multiple sclerosis (22)(23)(24). Multiple investigations have suggested linkage for chromosome region 1p36 in lupus (24)(25)(26), celiac disease (27), inflammatory bowel disease (28), and RA (29,30). This region was delineated further in adult RA using a case-control association design of single-nucleotide polymorphisms, resulting in a functional haplotype associated with RA that includes the gene PADI4 (31).…”

Section: Discussionmentioning

confidence: 99%

A genome‐wide scan for juvenile rheumatoid arthritis in affected sibpair families provides evidence of linkage

Thompson¹,

Moroldo²,

Guyer³

et al. 2004

Arthritis & Rheumatism

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Methods. Genotype data collected for HLA-DR and 386 microsatellite markers were subjected to multipoint nonparametric linkage analysis. Following analysis of the entire set of families, additional analyses were performed after a priori stratification by disease onset type, age at onset, disease course, and selected HLA-DRB1 alleles. Conclusion. These data support the hypothesis that multiple genes, including at least 1 in the HLA region, influence susceptibility to JRA. These findings for JRA are consistent with findings for other autoimmune diseases and support the notion that common genetic regions contribute to an autoimmune phenotype.Collectively, the varied conditions that constitute juvenile rheumatoid arthritis (JRA) represent the most common chronic rheumatic inflammatory conditions of childhood. Current estimates indicate that as many as 50,000 children in the US have been diagnosed with some form of JRA (1). The diagnosis of JRA is complicated by the heterogeneous nature of the clinical phenotypes and has broadly been defined by the American College of Rheumatology (ACR) (2) based on systemic involvement (fevers, rash, and involvement of other organ systems besides the musculoskeletal system) and mode of disease onset (pauciarticular [Յ4 joints] versus polyarticular [Ն5 joints]).Evidence suggests that JRA is a complex genetic disorder that is influenced by multiple genetic and environmental factors. The sibling risk ratio for a full sibling of a child with JRA is estimated to be 15 (3). These results are consistent with other autoimmune disorders, such as type 1 diabetes (4).

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“…Crohn disease is an example. Independent ASP studies suggested that several possible loci on different chromosomes were involved in Crohn disease [82][83][84] . Many, but not all, studies implicated a locus on chromosome 16; some of these studies, on their own, barely highlighted this region.…”

Section: Asp Studiesmentioning

confidence: 99%

The use of pedigree, sib-pair and association studies of common diseases for genetic mapping and epidemiology

2004

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Efforts to identify gene variants associated with susceptibility to common diseases use three approaches: pedigree and affected sib-pair linkage studies and association studies of population samples. The different aims of these study designs reflect their derivation from biological versus epidemiological traditions. Similar principles regarding determination of the evidence levels required to consider the results statistically significant apply to both linkage and association studies, however. Such determination requires explicit attention to the prior probability of particular findings, as well as appropriate correction for multiple comparisons. For most common diseases, increasing the sample size in a study is a crucial step in achieving statistically significant genetic mapping results. Recent studies suggest that the technology and statistical methodology will soon be available to make wellpowered studies feasible using any of these approaches.

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Identification of novel susceptibility loci for inflammatory bowel disease on chromosomes 1p, 3q, and 4q: Evidence for epistasis between 1p and IBD1

Cited by 362 publications

References 30 publications

A genome screen for linkage in Australian sibling-pairs with multiple sclerosis

A genome screen for linkage in Australian sibling-pairs with multiple sclerosis

A genome‐wide scan for juvenile rheumatoid arthritis in affected sibpair families provides evidence of linkage

The use of pedigree, sib-pair and association studies of common diseases for genetic mapping and epidemiology

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