rs115881826 HLA-B: protein levels and MCV

Key takeaways

• This variant is linked to higher alpha-2-macroglobulin receptor-associated protein levels in about 1000 individuals.
• The same variant also correlates with increased transcription factor IIA subunit 2 expression in about 2000 people.
• It is associated with slightly larger mean corpuscular volume in a large UKB sample of 394 thousand individuals.

What the research says This variant is linked to higher alpha-2-macroglobulin receptor-associated protein levels in about 1000 people [34814699]. It also correlates with increased transcription factor IIA subunit 2 expression in about 2000 people [39528825] and is associated with slightly larger mean corpuscular volume in a large UKB sample of 394 thousand individuals [39789286].

Reported associations

• Alpha-2-macroglobulin receptor-associated protein levels: the variant is linked to higher protein levels in about 1000 individuals [34814699].
• Transcription factor IIA subunit 2 expression: the variant is associated with increased expression in about 2000 individuals [39528825].
• Mean corpuscular volume: the variant is linked to slightly larger MCV in a UKB sample of 394 thousand people [39789286].

Evidence quality The evidence comes from three GWAS Catalog associations with effect sizes ranging from 1.91 to 0.044 and p-values below 1e-20 in samples of roughly 1 thousand, 2 thousand and 394 thousand individuals respectively [34814699] [39528825] [39789286]. No conflicting findings are reported.

Tissue-specific expression effects

• ENSG00000285647: increased expression in whole blood, aorta, spleen, nerve tibial [GTEx Portal]
• ENSG00000271581: increased expression in brain cerebellar hemisphere, liver, pituitary, testis [GTEx Portal]

No lifestyle considerations on file for this variant.