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US 8,137,915 B2Granted
Genes involved in intestinal inflammatory diseases and use thereof
AssigneeFondation Jean Dausset-CEPH
InventorsJean Pierre Hugot, Gilles Thomas, Mohamed Zouali, Suzanne Lesage, Mathias Chamaillard
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Abstract
The invention concerns genes involved in inflammatory and/or immune diseases and some cancers, in particular intestinal cryptogenic inflammatory diseases, and proteins coded by these genes. The invention also concerns methods for diagnosing inflammatory diseases.
Claims22
A method for identifying a human subject having an increased risk of Crohn's disease, said method comprising:
- (a) contacting a biological specimen from said human subject with a nucleic acid probe specific for a variant nucleic acid sequence selected from the group consisting of SEQ ID NO:3 having a C to T mutation at nucleotide 16467, SEQ ID NO:3 having a G to C mutation at nucleotide 27059, and SEQ ID NO:3 having a C insertion at nucleotide 34296;
- (b) determining the presence or absence of said variant nucleic acid sequence by detecting hybridization between said nucleic acid probe and said variant nucleic acid sequence;
- and
- (c) identifying a human subject carrying said variant nucleic acid sequence in homozygous form as having an increased risk of Crohn's disease in comparison to a human subject carrying said variant nucleic acid sequence in heterozygous form or a human subject not carrying said variant nucleic acid sequence.
1 more element
An assay method for determining the presence or absence of a variant nucleic acid sequence in a NOD2 gene in a human subject, said method comprising:
- (a) contacting a biological specimen from said human subject with a nucleic acid probe specific for a variant nucleic acid sequence selected from the group consisting of SEQ ID NO:3 having a C to T mutation at nucleotide 16467, SEQ ID NO:3 having a G to C mutation at nucleotide 27059, and SEQ ID NO:3 having a C insertion at nucleotide 34296;
- and
- (b) determining the presence or absence of said variant nucleic acid sequence by detecting hybridization between said nucleic acid probe and said variant nucleic acid sequence.
Dependencies are inferred from the claim text.