HLA-B
Major histocompatibility complex, class I, B
Gene Number: 3106
Location: 6p21.33
Key Functions: Antigen presentation, immune response activation, infection defense, autoimmunity regulation
HLA-B encodes a class I surface antigen from the major histocompatibility complex (MHC), responsible for presenting intracellular peptides to cytotoxic T cells. This allows the immune system to detect infected or abnormal cells and initiate appropriate immune responses.
HLA-B is highly polymorphic, with specific alleles influencing susceptibility to autoimmune diseases, infectious disease outcomes, and severe adverse drug reactions such as Stevens-Johnson syndrome and hypersensitivity to abacavir.
SNP ID | Your Genotype | Alternative Alleles | Interpretation |
|---|---|---|---|
rs2395029 | No matching variant or no valid DNA data | G | No interpretation available |
rs13202464 | No matching variant or no valid DNA data | G | No interpretation available |
rs2395029 (HCP5 tag SNP for HLA-B57:01)
TT – Common genotype; HLA-B*57:01 allele not presente (R).
TG – Carrier of the rs2395029 (G) allele. This is ~99.9% predictive of carrying the HLA-B*57:01 allele in many Caucasian and Hispanic populations (but not all). Associated with a high risk of abacavir hypersensitivity and increased risk of flucloxacillin-induced liver injury (R).
GG – Very likely homozygous for HLA-B57:01; extremely high risk of severe reactions to abacavir and other HLA-B57:01-associated drug reactions (R).
Functional effect: rs2395029 is a SNP in the major histocompatibility complex (MHC) region. The G allele strongly tags the HLA-B*57:01 allele, which has been linked to abacavir hypersensitivity, flucloxacillin-induced liver injury, and certain autoimmune associations. While highly predictive in Europeans and Hispanics, the link is less consistent in other populations (R).
rs13202464 (tag SNP for HLA-B27)*
AA – Common genotype; HLA-B*27 allele not present (baseline risk) (R).
AG – Heterozygous for the G allele; likely carrier of HLA-B*27. Associated with a higher risk of ankylosing spondylitis (AS) and related autoimmune conditions (R).
GG – Likely homozygous HLA-B*27; strongest genetic risk factor for ankylosing spondylitis and related spondyloarthropathies (R)..
Functional effect: The G allele tags the HLA-B*27 allele, which predisposes to ankylosing spondylitis and related conditions (e.g., reactive arthritis, acute anterior uveitis). Only 1–2% of carriers actually develop disease, so penetrance is low but predictive value is strong (R).
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