This SNP, rs653178, is basically a proxy (r2>0.99) for rs3184504, as both are associated with celiac disease; see rs3184504 for more details.
This SNP is also associated with risk of hypertension. [PMID 19430483
]
23andMe blog blood pressure
| GWAS snp
|
| PMID
|
[PMID 18311140]
|
| Trait
|
Celiac disease
|
| Title
|
Newly identified genetic risk variants for celiac disease related to the immune response
|
| Risk Allele
|
G
|
| P-val
|
8.0000000000000002E-8
|
| Odds Ratio
|
1.21 [1.13-1.30]
|
| OMIM | 612011 |
| Desc | CELIAC DISEASE, SUSCEPTIBILITY TO, 13; CELIAC13 |
| Variant | |
| Related | also |
| GWAS snp
|
| PMID
|
[PMID 20190752]
|
| Trait
|
Celiac disease
|
| Title
|
Multiple common variants for celiac disease influencing immune gene expression
|
| Risk Allele
|
G
|
| P-val
|
7E-21
|
| Odds Ratio
|
1.20 [1.15-1.24]
|
| GWAS snp
|
| PMID
|
[PMID 21383967]
|
| Trait
|
|
| Title
|
Meta-Analysis of Genome-Wide Association Studies in Celiac Disease and Rheumatoid Arthritis Identifies Fourteen Non-HLA Shared Loci
|
| Risk Allele
|
C
|
| P-val
|
3E-19
|
| Odds Ratio
|
None None
|
[PMID 21963141] Genetic variations in CYP17A1, CACNB2 and PLEKHA7 are associated with blood pressure and/or hypertension in she ethnic minority of China
| GWAS snp
|
| PMID
|
[PMID 21909110]
|
| Trait
|
|
| Title
|
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
|
| Risk Allele
|
T
|
| P-val
|
7E-20
|
| Odds Ratio
|
0.4290 [0.34-0.52] mmHg decrease
|
[PMID 16205789] Positive selection of a pre-expansion CAG repeat of the human SCA2 gene.
[PMID 18713140] Translational mini-review series on the immunogenetics of gut disease: immunogenetics of coeliac disease.
[PMID 18853133] Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.
[PMID 20369022] Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.
[PMID 20542020] Confirmation of top polymorphisms in hypertension genome wide association study among Han Chinese.
[PMID 20647273] Investigation of type 1 diabetes and coeliac disease susceptibility loci for association with juvenile idiopathic arthritis.
| GWAS snp
|
| PMID
|
[PMID 23263486]
|
| Trait
|
Urate levels
|
| Title
|
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
|
| Risk Allele
|
T
|
| P-val
|
7E-12
|
| Odds Ratio
|
.04 [0.025-0.045] mg/dl decrease
|
[PMID 23474010] Overlap between common genetic polymorphisms underpinning kidney traits and cardiovascular disease phenotypes: the CKDGen consortium
[PMID 23844121] Thrombotic Antiphospholipid Syndrome Shows Strong Haplotypic Association with SH2B3-ATXN2 Locus
[PMID 25009551] The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study
[PMID 25893417] Genetic variants associated with celiac disease and the risk for coronary artery disease
[PMID 27338949] Mendelian Randomisation study of the influence of eGFR on coronary heart disease.
]
