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Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.

UK Primary Biliary Cirrhosis (PBC) Consortium
Liu J.Z., Almarri M.A., Gaffney D.J., Mells G.F., Jostins L., Cordell H.J., Ducker S.J., Day D.B., Heneghan M.A., Neuberger J.M. et al.

Nat. Genet. 44:1137-1141(2012) · Mapped (3)

PIK3CA mutations may be discordant between primary and corresponding metastatic disease in breast cancer.

Dupont Jensen J., Laenkholm A.V., Knoop A., Ewertz M., Bandaru R., Liu W., Hackl W., Barrett J.C., Gardner H.

Clin. Cancer Res. 17:667-677(2011) · Mapped (7)

Association of Fc receptor-like 5 (FCRL5) with Graves' disease is secondary to the effect of FCRL3.

Simmonds M.J., Brand O.J., Barrett J.C., Newby P.R., Franklyn J.A., Gough S.C.

Clin. Endocrinol. (Oxf) 73:654-660(2010) · Mapped (5)

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.

Wellcome Trust Case Control Consortium
Craddock N., Hurles M.E., Cardin N., Pearson R.D., Plagnol V., Robson S., Vukcevic D., Barnes C., Conrad D.F., Giannoulatou E. et al.

Nature 464:713-720(2010) · Mapped (3)

Multiple common variants for celiac disease influencing immune gene expression.

Dubois P.C., Trynka G., Franke L., Hunt K.A., Romanos J., Curtotti A., Zhernakova A., Heap G.A., Adany R., Aromaa A. et al.

Nat. Genet. 42:295-302(2010) · Mapped (596)

A gene signature predictive for outcome in advanced ovarian cancer identifies a survival factor: microfibril-associated glycoprotein 2.

Mok S.C., Bonome T., Vathipadiekal V., Bell A., Johnson M.E., Wong K.K., Park D.C., Hao K., Yip D.K., Donninger H. et al.

Cancer Cell 16:521-532(2009) · Mapped (4)

Common variants at five new loci associated with early-onset inflammatory bowel disease.

International IBD Genetics Consortium
Imielinski M., Baldassano R.N., Griffiths A., Russell R.K., Annese V., Dubinsky M., Kugathasan S., Bradfield J.P., Walters T.D., Sleiman P. et al.

Nat. Genet. 41:1335-1340(2009) · Mapped (56)

Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.

UK IBD Genetics Consortium
Barrett J.C., Lee J.C., Lees C.W., Prescott N.J., Anderson C.A., Phillips A., Wesley E., Parnell K., Zhang H., Drummond H. et al.

Nat. Genet. 41:1330-1334(2009) · Mapped (70)

Confirmation of the novel association at the BTNL2 locus with ulcerative colitis.

Pathan S., Gowdy R.E., Cooney R., Beckly J.B., Hancock L., Guo C., Barrett J.C., Morris A., Jewell D.P.

Tissue Antigens 74:322-329(2009) · Mapped (359)

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.

Type 1 Diabetes Genetics Consortium
Barrett J.C., Clayton D.G., Concannon P., Akolkar B., Cooper J.D., Erlich H.A., Julier C., Morahan G., Nerup J., Nierras C. et al.

Nat. Genet. 41:703-707(2009) · Mapped (114)

Urothelial overexpression of insulin-like growth factor-1 increases susceptibility to p-cresidine-induced bladder carcinogenesis in transgenic mice.

Hursting S.D., Perkins S.N., Lavigne J.A., Beltran L., Haines D.C., Hill H.L., Alvord W.G., Barrett J.C., DiGiovanni J.

Mol. Carcinog. 48:671-677(2009) · Mapped (7)

Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease.

Brand O.J., Barrett J.C., Simmonds M.J., Newby P.R., McCabe C.J., Bruce C.K., Kysela B., Carr-Smith J.D., Brix T., Hunt P.J. et al.

Hum. Mol. Genet. 18:1704-1713(2009) · Mapped (6)

Melanoma antigen-11 inhibits the hypoxia-inducible factor prolyl hydroxylase 2 and activates hypoxic response.

Aprelikova O., Pandolfi S., Tackett S., Ferreira M., Salnikow K., Ward Y., Risinger J.I., Barrett J.C., Niederhuber J.

Cancer Res. 69:616-624(2009) · Mapped (2)

Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship.

Wellcome Trust Case Control Consortium
Anderson C.A., Massey D.C., Barrett J.C., Prescott N.J., Tremelling M., Fisher S.A., Gwilliam R., Jacob J., Nimmo E.R., Drummond H. et al.

Gastroenterology 136:523-9.e3(2009) · Mapped (52)

Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.

Cooper J.D., Smyth D.J., Smiles A.M., Plagnol V., Walker N.M., Allen J.E., Downes K., Barrett J.C., Healy B.C., Mychaleckyj J.C. et al.

Nat. Genet. 40:1399-1401(2008) · Mapped (51)

Race/ethnic variation in serum levels of IGF-I and IGFBP-3 in US adults.

Berrigan D., Potischman N., Dodd K.W., Hursting S.D., Lavigne J., Barrett J.C., Ballard-Barbash R.

Growth Horm. IGF Res. 19:146-155(2009) · Mapped (24)

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.

NIDDK IBD Genetics Consortium
Barrett J.C., Hansoul S., Nicolae D.L., Cho J.H., Duerr R.H., Rioux J.D., Brant S.R., Silverberg M.S., Taylor K.D., Barmada M.M. et al.

Nat. Genet. 40:955-962(2008) · Mapped (133)

Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.

Wellcome Trust Case Control Consortium
Fisher S.A., Tremelling M., Anderson C.A., Gwilliam R., Bumpstead S., Prescott N.J., Nimmo E.R., Massey D., Berzuini C., Johnson C. et al.

Nat. Genet. 40:710-712(2008) · Mapped (55)

SIRT6 is a histone H3 lysine 9 deacetylase that modulates telomeric chromatin.

Michishita E., McCord R.A., Berber E., Kioi M., Padilla-Nash H., Damian M., Cheung P., Kusumoto R., Kawahara T.L.A., Barrett J.C. et al.

Nature 452:492-496(2008) · UniProtKB (1) · Mapped (4)

Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.

Parkes M., Barrett J.C., Prescott N.J., Tremelling M., Anderson C.A., Fisher S.A., Roberts R.G., Nimmo E.R., Cummings F.R., Soars D. et al.

Nat. Genet. 39:830-832(2007) · UniProtKB (1) · Mapped (18)

Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.

Wellcome Trust Case Control Consortium (WTCCC)
Zeggini E., Weedon M.N., Lindgren C.M., Frayling T.M., Elliott K.S., Lango H., Timpson N.J., Perry J.R., Rayner N.W., Freathy R.M. et al.

Science 316:1336-1341(2007) · Mapped (72)

Confirmation of the role of ATG16L1 as a Crohn's disease susceptibility gene.

Cummings J.R., Cooney R., Pathan S., Anderson C.A., Barrett J.C., Beckly J., Geremia A., Hancock L., Guo C., Ahmad T. et al.

Inflamm. Bowel Dis. 13:941-946(2007) · Mapped (8)

A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity.

Frayling T.M., Timpson N.J., Weedon M.N., Zeggini E., Freathy R.M., Lindgren C.M., Perry J.R., Elliott K.S., Lango H., Rayner N.W. et al.

Science 316:889-894(2007) · UniProtKB (2) · Mapped (3)

Global expression analysis of cancer/testis genes in uterine cancers reveals a high incidence of BORIS expression.

Risinger J.I., Chandramouli G.V., Maxwell G.L., Custer M., Pack S., Loukinov D., Aprelikova O., Litzi T., Schrump D.S., Murphy S.K. et al.

Clin. Cancer Res. 13:1713-1719(2007) · Mapped (17)

Association of PTPN22 haplotypes with Graves' disease.

Heward J.M., Brand O.J., Barrett J.C., Carr-Smith J.D., Franklyn J.A., Gough S.C.

J. Clin. Endocrinol. Metab. 92:685-690(2007) · Mapped (6)

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