HLA-DQA1, variants, traits, and what the research shows

HLA-DQA1 - what this gene does

HLA-DQA1 (Human Leukocyte Antigen - DQ Alpha 1; also catalogued under the synonym HLA-DQ alpha chain 1) has variants on file that span five distinct trait themes: immune-related conditions, metabolic traits, rare diseases, liver conditions, and cancer risk. The specific biological mechanisms behind each association are not detailed in the available data; what follows is grounded solely in the variant and trait information catalogued here.

Key takeaways

• Variants in this gene span immune conditions, metabolic traits, rare diseases, liver conditions, and cancer risk - an unusually broad trait footprint for a single gene locus.
• All twenty prioritised variants listed here carry a uniform magnitude score of 4.50, placing them in the same moderate-to-high evidence tier.
• Four distinct rare-disease-linked variants appear in the catalogue, the largest single-trait cluster among the top variants.
• 287 variants are on file for this gene overall; only 35 are accompanied by published research summaries, so the majority of the catalogue remains editorially uncharacterised.
• Genome-wide association study (GWAS) signals represent population-level statistics, not deterministic predictors for any individual.

Notable variants

The immune-trait cluster is anchored by rs3104373 and rs3129769, both catalogued under immune-related associations. Metabolic traits are represented by rs114655816 and rs3129774. The rare-disease category carries the deepest bench: rs116041786 and rs116232857 each have published variant pages and rare-disease labels, joined by rs28383345 and rs28383346 - four variants converging on the same trait theme is the strongest within-category signal visible in the current data. Outside those clusters, rs149411024 appears in liver-related research, and rs2040406 is catalogued under cancer risk.

Trait associations

Immune-related conditions are supported by two catalogued variants - rs3104373 and rs3129769 - appearing together under the immune trait label; co-occurrence of multiple variants in a category modestly strengthens the signal relative to a single entry. Metabolic associations are likewise anchored by two variants, rs114655816 and rs3129774. The rare-disease category has the largest footprint among top variants, with rs116041786, rs116232857, rs28383345, and rs28383346 all flagged under that theme; four variants in a single category is notable, though the specific rare conditions each variant is linked to are not detailed in the current data set. Liver-related research surfaces one variant, rs149411024, and cancer risk is represented by rs2040406. Ten additional high-magnitude variants - including rs11545686, rs117353881, rs117375124, rs118114174, and rs118178404 - carry published pages but lack trait labels in the current input; their associations should be verified on their individual variant pages.

Evidence quality

All twenty prioritised variants share a magnitude score of 4.50, so no single entry stands out as dramatically stronger than the rest on that metric alone; the primary differentiator at present is whether a variant has a published page and a trait label. The gene holds 287 total variants on file, of which only 35 carry published research summaries - meaning the vast majority of catalogue entries are preliminary pointers rather than well-characterised findings. Critically, the detailed editorial content for the published-page variants (including rs116041786, rs116232857, and rs114655816) was not available in the current data set, so effect sizes, odds ratios, sample sizes, and replication status for each association cannot be reported here and must be verified on the individual SNP pages. As with GWAS signals generally - GWAS being studies that scan hundreds of thousands of genetic positions across large populations to find statistical links to traits - independent replication across multiple cohorts is the benchmark for confidence, and the current data do not confirm replication status for any entry listed.

What this is NOT

The variants catalogued here are population-level statistical signals observed across large groups of people; they describe aggregate patterns and are not deterministic predictors of any health outcome for any individual. This entry does not constitute medical advice, a diagnosis, or a recommendation of any action.