rs2187668
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 3 | Autoimmune disorder risk (lupus, celiac disease) due to 2 HLA-DRB1*0301 alleles |
| (A;G) | 2.1 | Somewhat increased autoimmune disorder (lupus, celiac disease) risk; 1 HLA-DRB1*0301 allele |
| (G;G) | 0 | average |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 32638107 |
| Gene | HLA-DQA1, LOC107986589 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2187668 |
| dbSNP (classic) | rs2187668 |
| ClinGen | rs2187668 |
| ebi | rs2187668 |
| HLI | rs2187668 |
| Exac | rs2187668 |
| Gnomad | rs2187668 |
| Varsome | rs2187668 |
| LitVar | rs2187668 |
| Map | rs2187668 |
| PheGenI | rs2187668 |
| Biobank | rs2187668 |
| 1000 genomes | rs2187668 |
| hgdp | rs2187668 |
| ensembl | rs2187668 |
| geneview | rs2187668 |
| scholar | rs2187668 |
| rs2187668 | |
| pharmgkb | rs2187668 |
| gwascentral | rs2187668 |
| openSNP | rs2187668 |
| 23andMe | rs2187668 |
| SNPshot | rs2187668 |
| SNPdbe | rs2187668 |
| MSV3d | rs2187668 |
| GWAS Ctlg | rs2187668 |
| GMAF | 0.08356 |
| Max Magnitude | 3 |
| ? | (A;A) (A;G) (G;G) | 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
]
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]
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]
| GWAS snp | |
|---|---|
| PMID | [PMID 18204098] |
| Trait | Systemic lupus erythematosus |
| Title | Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX |
| Risk Allele | A |
| P-val | 2.9999999999999999E-21 |
| Odds Ratio | NR NR |
| GWAS snp | |
|---|---|
| PMID | [PMID 20190752]
|
| Trait | Celiac disease |
| Title | Multiple common variants for celiac disease influencing immune gene expression |
| Risk Allele | A |
| P-val | 1E-50 |
| Odds Ratio | 6.23 [5.95-6.52] |
| GWAS snp | |
|---|---|
| PMID | [PMID 20694011] |
| Trait | |
| Title | Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency |
| Risk Allele | A |
| P-val | 2E-33 |
| Odds Ratio | 2.53 [2.17-2.95] |
| GWAS snp | |
|---|---|
| PMID | [PMID 21323541] |
| Trait | |
| Title | Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy |
| Risk Allele | |
| P-val | 8E-93 |
| Odds Ratio | 4.3200 [3.73-5.01] |
| GWAS snp | |
|---|---|
| PMID | [PMID 21408207]
|
| Trait | |
| Title | Differential Genetic Associations for Systemic Lupus Erythematosus Based on Anti-dsDNA Autoantibody Production |
| Risk Allele | A |
| P-val | 6E-28 |
| Odds Ratio | 2.2300 [1.94-2.57] |
[PMID 15747258] A high-resolution linkage-disequilibrium map of the human major histocompatibility complex and first generation of tag single-nucleotide polymorphisms.
[PMID 18311140] Newly identified genetic risk variants for celiac disease related to the immune response.
[PMID 19176549] Genome-wide association analysis by lasso penalized logistic regression.
[PMID 19455305] No association of multiple type 2 diabetes loci with type 1 diabetes.
[PMID 19846760] Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases.
[PMID 21379322] Risk alleles for systemic lupus erythematosus in a large case-control collection and associations with clinical subphenotypes.
[PMID 21383967] 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.
[PMID 23194743] Development of a high resolution melting method for genotyping of risk HLA-DQA1 and PLA2R1 alleles and ethnic distribution of these risk alleles
[PMID 23961418] Association of the HLA locus and TNF with type I autoimmune hepatitis susceptibility in New Zealand Caucasians
| GWAS snp | |
|---|---|
| PMID | [PMID 24768677] |
| Trait | Autoimmune hepatitis type-1 |
| Title | Genome-wide association study identifies variants associated with autoimmune hepatitis type 1. |
| Risk Allele | |
| P-val | 2E-78 |
| Odds Ratio | 2.90 [2.60-3.40] |
[PMID 25187357] PLA2R-associated membranous glomerulopathy is modulated by common variants in PLA2R1 and HLA-DQA1 genes
[PMID 26673907] PLA2R antibodies, glomerular PLA2R deposits and variations in PLA2R1 and HLA-DQA1 genes in primary membranous nephropathy in South Asians.
[PMID 28849274] Analysis of PLA2R1 and HLA-DQA1 sequence variants in Japanese patients with idiopathic and secondary membranous nephropathy.
[PMID 30467913] Interaction between PLA2R1 and HLA-DQA1 Variants contributes to the increased genetic susceptibility to membranous nephropathy in Western China.
