SwePub
Sök i LIBRIS databas

  Utökad sökning

WFRF:(Cohen Eric)
 

Sökning: WFRF:(Cohen Eric) > Genetic variation i...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00003956naa a2200637 4500
001oai:DiVA.org:uu-487085
003SwePub
008221024s2001 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4870852 URI
0247 a https://doi.org/10.1038/ng1001-2232 DOI
040 a (SwePub)uu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Rioux, John D.4 aut
2451 0a Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease
264 1b Nature Publishing Group,c 2001
338 a print2 rdacarrier
520 a Linkage disequilibrium (LD) mapping provides a powerful method for fine-structure localization of rare disease genes, but has not yet been widely applied to common disease1. We sought to design a systematic approach for LD mapping and apply it to the localization of a gene (IBD5) conferring susceptibility to Crohn disease. The key issues are: (i) to detect a significant LD signal (ii) to rigorously bound the critical region and (iii) to identify the causal genetic variant within this region. We previously mapped the IBD5 locus to a large region spanning 18 cM of chromosome 5q31 (P<10−4). Using dense genetic maps of microsatellite markers and single-nucleotide polymorphisms (SNPs) across the entire region, we found strong evidence of LD. We bound the region to a common haplotype spanning 250 kb that shows strong association with the disease (P<2×10−7) and contains the cytokine gene cluster. This finding provides overwhelming evidence that a specific common haplotype of the cytokine region in 5q31 confers susceptibility to Crohn disease. However, genetic evidence alone is not sufficient to identify the causal mutation within this region, as strong LD across the region results in multiple SNPs having equivalent genetic evidence—each consistent with the expected properties of the IBD5 locus. These results have important implications for Crohn disease in particular and LD mapping in general.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
7001 a Daly, Mark J.4 aut
7001 a Silverberg, Mark S.4 aut
7001 a Lindblad, Kerstinu Whitehead Institute/Massachusetts Institute of Technology, Center for Genome Research, Cambridge, Massachusetts, USA4 aut0 (Swepub:uu)kerli865
7001 a Steinhart, Hillary4 aut
7001 a Cohen, Zane4 aut
7001 a Delmonte, Terrye4 aut
7001 a Kocher, Kerry4 aut
7001 a Miller, Katie4 aut
7001 a Guschwan, Sheila4 aut
7001 a Kulbokas, Edward J.4 aut
7001 a O'Leary, Sinead4 aut
7001 a Winchester, Ellen4 aut
7001 a Dewar, Ken4 aut
7001 a Green, Todd4 aut
7001 a Stone, Valerie4 aut
7001 a Chow, Christine4 aut
7001 a Cohen, Albert4 aut
7001 a Langelier, Diane4 aut
7001 a Lapointe, Gilles4 aut
7001 a Gaudet, Daniel4 aut
7001 a Faith, Janet4 aut
7001 a Branco, Nancy4 aut
7001 a Bull, Shelley B.4 aut
7001 a McLeod, Robin S.4 aut
7001 a Griffiths, Anne M.4 aut
7001 a Bitton, Alain4 aut
7001 a Greenberg, Gordon R.4 aut
7001 a Lander, Eric S.4 aut
7001 a Siminovitch, Katherine A.4 aut
7001 a Hudson, Thomas J.4 aut
7102 a Whitehead Institute/Massachusetts Institute of Technology, Center for Genome Research, Cambridge, Massachusetts, USA4 org
7730 t Nature Geneticsd : Nature Publishing Groupg 29:2, s. 223-228q 29:2<223-228x 1061-4036x 1546-1718
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-487085
8564 8u https://doi.org/10.1038/ng1001-223

Hitta via bibliotek

Till lärosätets databas

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy