The present invention provides a method of assessing type 2 diabetes susceptibility and/or predicting treatment responsiveness in a human subject, the method comprising determining the identity of at least one allele at each of three or more positions of single nucleotide polymorphism (SNP) selected from the group consisting of: SLC16A11-rs75493593; HNF1A-rs483353044; TCF7L2-rs7903146; CDKN2A/B-rs10811661; CDKAL1-rs7756992; SLC30A8-rs3802177; IGF2BP2-rs4402960; FTO-rs9936385; PPARG-rs1801282; HHEX/IDE-rs1111875; ADCYS-rs11717195; JAZF1-rs849135; WSF1-rs4458523; INS-IGF2-rs149483638; KCNQ1-rs2237897; and KCNJ11-rs5219, and/or an SNP in linkage disequilibrium with any one of said SNPs at r.sup.2>0.8. Also provided are a genotyping tool and a type 2 diabetes risk assessment system for use in the method of the invention.

The present invention relates to a nucleic acid molecule comprising an annexin A5 (ANXA5) gene regulation element which comprises at least one point mutation, whereby said at least one point mutation (substitution) is selected from the group consisting of (i) a point mutation G to A at a position which corresponds to nucleotide 186 of SEQ ID NO: 2; (ii) a point mutation A to C at a position which corresponds to nucleotide 203 of SEQ ID NO: 2; (iii) a point mutation T to C at a position which corresponds to nucleotide 229 of SEQ ID NO: 2; and (iv) a point mutation G to A at a position which corresponds to nucleotide 276 of SEQ ID NO: 2. Furthermore, the present invention provides for a vector comprising the nucleic acid molecule the invention and a host transformed with the vector. The invention also relates to specific uses, in particular diagnostic uses of the nucleic acid molecules described herein. Moreover, the invention relates to a method for haplotyping an ANXA5 gene regulation element in an individual comprising the steps of: (a) isolating a nucleic acid from a sample that has been removed from the individual; (b) determining the presence of the nucleotides present at positions 186, 203, 229 and 276 of the individual's copy of the ANXA5 gene regulation element, wherein the position numbers are determined by comparison to SEQ ID NO: 2; (c) assigning the individuals a particular haplotype by comparison of the nucleotides present at said positions to the nucleotides recited in the haplotypes as defined herein.

The invention relates to methods of treating a patient suffering from an IL-33-mediated disorder, such as asthma, comprising administering to the patient an IL-33 axis binding antagonist based on the genotype of the /L1RL1gene, the genotype of a polymorphism in genomic vicinity to the IL-33 gene, the expression level of periostin or the expression level of soluble ST2. The invention further relates to methods of determining whether a patient is at increased risk of an IL-33-mediated disorder, as well as methods of determining whether a patient suffering from such a disorder is likely to respond to a treatment comprising an IL-33 axis binding antagonist, based on the genotype of the /L1RL1gene the genotype of a polymorphism in genomic vicinity to the IL-33 gene, the expression level of periostin or the expression level of soluble ST2.

The use of markers that participate in inflammatory processes and are associated cytokines in the diagnosis, treatment or prophylaxis of diseases is disclosed. Specifically, cytokines are used to diagnose or treat non-neoplastic or non-leukaemic diseases such as autoimmune diseases or neurodegenerative disorders by the process of taking a DNA bearing sample from a subject animal and analysing the sample to determine the allelic variants present at one or more of the SNP loci at positions −1082, −819 and −592 of the gene encoding IL-10. A method of treating Alzheimer's disease, autoimmune diseases or other neurodegenerative disorders is disclosed by modulating, that is augmenting or decreasing, the function of a gene having one of the allelic polymorphisms of IL-10. IL-6 inhibitors and IL-10 promoters can be used in the manufacture of a medicament for the treatment of prophylaxis of Alzheimer's disease.

The present invention is based on the discovery of genetic polymorphisms that are associated with cardiovascular disorders, particularly acute coronary events such as myocardial infarction and stroke, and genetic polymorphisms that are associated with responsiveness of an individual to treatment of cardiovascular disorders with statin. In particular, the present invention relates to nucleic acid molecules containing the polymorphisms, variant proteins encoded by such nucleic acid molecules, reagents for detecting the polymorphic nucleic acid molecules and proteins, and methods of using the nucleic acid and proteins as well as methods of using reagents for their detection.

The invention relates to human targets of interest (TOI), anti-TOI ligands, kits compositions and method.

This invention relates to nucleotide polymorphisms in the human Apo(a) gene and to the use of Apo(a) nucleotide polymorphisms in identifying whether a human subject will respond or not to treatment with acetylsalicylic acid.

The present invention describes a method of prognosing high or low probability of developing an inflammatory bowel disease (IBD) in a subject and a method of diagnosing an inflammatory bowel disease (IBD) in a subject. The invention further provides for a method of identifying genes/genetic loci associated with a disease condition, such as IBD, CD and/or UC.

In some embodiments, the present inventions relates generally to compositions, methods and kits for use in discriminating sequence variation between different alleles. More specifically, in some embodiments, the present invention provides for compositions, methods and kits for quantitating rare (e.g., mutant) allelic variants, such as SNPs, or nucleotide (NT) insertions or deletions, in samples comprising abundant (e.g., wild type) allelic variants with high specificity and selectivity. In particular, in some embodiments, the invention relates to a highly selective method for mutation detection referred to as competitive allele-specific TaqMan PCR (“cast-PCR”).

Method of haplotype analysis. In an exemplary method, an aqueous phase containing nucleic acid may be partitioned into a plurality of discrete volumes. At least one allele sequence may be amplified in the volumes from each of a first polymorphic locus and a second polymorphic locus that exhibit sequence variation in the nucleic acid. At least one measure of co-amplification of allele sequences from both loci in the same volumes may be determined. A haplotype of the first and second loci may be selected based on the at least one measure of co-amplification.