{{Rsnum
|rsid=2187668
|Gene=HLA-DQA1
|Chromosome=6
|position=32638107
|Orientation=minus
|GMAF=0.08356
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=HLA-DQA1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 15.9 | 84.1
| HCB | 0.0 | 14.7 | 85.3
| JPT | 0.0 | 6.2 | 93.8
| YRI | 0.7 | 13.6 | 85.7
| ASW | 1.8 | 5.3 | 93.0
| CHB | 0.0 | 14.7 | 85.3
| CHD | 0.0 | 10.1 | 89.9
| GIH | 1.0 | 16.8 | 82.2
| LWK | 0.0 | 11.0 | 89.0
| MEX | 5.2 | 31.0 | 63.8
| MKK | 0.6 | 19.2 | 80.1
| TSI | 1.0 | 20.6 | 78.4
| HapMapRevision=28
}}
In at least UK populations, and perhaps others, SNP [[rs2187668]] is a tag SNP for the HLA-DRB1*0301 allele.

The HLA-DRB1*0301 allele is the allele presenting the highest risk for developing [[lupus]], and it appears to act in a dominant manner (i.e. inheriting 2 copies is no worse than inheriting 1 copy). In dbSNP orientation, the risk allele is [[rs2187668]](A), with an odds ratio of 2.3x (CI: 1.7 - 3.2, permuted p < 0.0001). {{PMID|17997607|OA=1
}}

From individuals with the most common [[rs2187668]](G;G) genotype, risk is reduced for celiac disease, with an odds ratio of 0.30x according to a study of ~800 patients.{{PMID|17558408|OA=1
}}

[[rs2187668]](A) also tags the tightly linked DQB1*0201 allele, which in turn is linked to DQA1*0501; together, these are known as the DQ2.5 haplotype. This is the most common haplotype associated with [[celiac disease]] in Europeans.{{PMID|18509540|OA=1
}}

{{PMID Auto GWAS
|PMID=18204098
|Trait=Systemic lupus erythematosus
|Title=Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX
|RiskAllele=A
|Pval=2.9999999999999999E-21
|OR=NR
|ORtxt=NR
}}

{{PMID Auto GWAS
|PMID=20190752
|Trait=Celiac disease
|Title=Multiple common variants for celiac disease influencing immune gene expression
|RiskAllele=A
|Pval=1E-50
|OR=6.23
|ORtxt=[5.95-6.52]
|OA=1
}}
{{PMID Auto GWAS
|PMID=20694011
|Trait=None
|Title=Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency
|RiskAllele=A
|Pval=2E-33
|OR=2.53
|ORtxt=[2.17-2.95]
}}

{{PMID Auto GWAS
|PMID=21323541
|Trait=None
|Title=Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy
|RiskAllele=
|Pval=8E-93
|OR=4.3200
|ORtxt=[3.73-5.01]
}}

{{PMID Auto GWAS
|PMID=21408207
|Trait=None
|Title=Differential Genetic Associations for Systemic Lupus Erythematosus Based on Anti-dsDNA Autoantibody Production
|RiskAllele=A
|Pval=6E-28
|OR=2.2300
|ORtxt=[1.94-2.57]
|OA=1
}}

{{PMID|15747258|OA=1
}} A high-resolution linkage-disequilibrium map of the human major histocompatibility complex and first generation of tag single-nucleotide polymorphisms.

{{PMID|18311140|OA=1
}} Newly identified genetic risk variants for celiac disease related to the immune response.

{{PMID|19176549|OA=1
}} Genome-wide association analysis by lasso penalized logistic regression.

{{PMID|19455305|OA=1
}} No association of multiple type 2 diabetes loci with type 1 diabetes.

{{PMID|19846760|OA=1
}} Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases.

{{PMID|21379322|OA=1
}} Risk alleles for systemic lupus erythematosus in a large case-control collection and associations with clinical subphenotypes.

{{PMID|21383967|OA=1
}} Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.

{{PMID|22511809}} Association of variants in HLA-DQA1-DQB1, PTPN22, INS, and CTLA4 with GAD autoantibodies and insulin secretion in nondiabetic adults of the Botnia Prospective Study.

[[Kidney Disease]]

{{PMID Auto
|PMID=23194743
|Title=Development of a high resolution melting method for genotyping of risk HLA-DQA1 and PLA2R1 alleles and ethnic distribution of these risk alleles
}}

{{PMID Auto
|PMID=23961418
|Title=Association of the HLA locus and TNF with type I autoimmune hepatitis susceptibility in New Zealand Caucasians
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}