Genetic Risk Factors

A lot of immunological diseases and disorders of the human metabolism have (at least partly) a genetic background. In case of the presence of the genes, mutations or alleles, the risk of developing the disease becomes larger.

Hereunder a list of diseases and their risk factors we can detect with our kits:

Immunology:

• Ankylosing spondylitis: Predisposing alleles HLA-B*27 and CYP2D6*4
• Rheumatoid arthritis: HLA-DRB1 Shared epitope QKRAA/QRRAA/RRRAA
• Coeliac disease: predisposing alleles in the HLA-complex DQ2, DQ8 and DR4
• IDDM: predisposing alleles for Diabetes mellulitis type I: DQA1*0301, DQA1*05, DQB1*0201, DQB1*0302, DR3 and DR4 in the HLA-complex

Pharmacogenetics:

• HLA-B5701 allele: hypersensitivity reaction to abacavir
• Cytochrome P450: poor metabolizer allele CYP2C19*2, CYP2C9 alleles *2 and *3 (warfarin hypersenitivity R144C and I359L)

Metabolism:

• Risk alleles for Morbus Alzheimer (ApoE e2, e3 and e4), familiar hyperlipoproteinaemie and arteriosclerosis (ApoB Arg3500Gln-mutation)
• Osteoporosis riskfactors: Vitamin D receptor B/b and collagen type I alpha 1 S/s Alleles
• Glutathion-S-Transferase Polymorphismus M1 and T1
• Alpha-1-Antitrypsin: point mutations PiZ and PiS
• Lactose-intolerance: pre-disposing alleles in the MCM/6 gene: polymorphisms G/A-22018 and C/T-13910

The products used for the detection of these risk factors vary from SSP, SSOP to real-time PCR. Please contact us for more detailed information.