rs1464510

This variant is located in the LPP gene.

GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

celiac disease

Allele A
OR 1.29
p 3.0e-40
N 15,283
Large GWAS
European
Allele A
OR 1.23
p 5.0e-9
N 2,189
Large GWAS
European

Vitiligo

Jin Y et al. Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. The New England Journal of Medicine 362(18):1686-97 (2010)
Allele T
OR 1.31
p 1.0e-11
N 4,021
Large GWAS
European

Research that mentions this SNP (3)

Genetic variants associated with celiac disease and the risk for coronary artery disease
Meta-analysisN=86,995Henning Jansen et al.(2015)· Molecular Genetics and Genomics

This meta-analysis of 22,233 CAD cases and 64,762 controls tested 41 celiac disease-associated SNPs for association with coronary artery disease (CAD). While 58.5% of celiac disease risk alleles showed positive association with CAD (OR 1.001-1.081), this was not significantly different from the 50% expected by chance (p=0.069). Only rs653178 at the SH2B3/ATXN2 locus achieved study-wide statistical significance (OR 1.081, p=2.2×10⁻⁶), likely through pleiotropic effects. The findings provide no convincing evidence that genetic variants associated with celiac disease contribute to CAD risk.

Traits studied:Celiac diseaseCoronary artery disease
Possible contribution of GSTP1 and other xenobiotic metabolizing genes to vitiligo susceptibility
AssociationN=200Mikhail M. Minashkin et al.(2013)· Archives of Dermatological Research

A candidate gene association study in 100 Russian vitiligo patients and 100 controls identified a strong novel association between GSTP1 rs1138272 (Ala114Val, OR=13.03, Bonferroni-adjusted P=0.0015) and vitiligo susceptibility. Cumulative analysis of multiple xenobiotic metabolizing genes showed that carrying higher numbers of risk alleles was associated with increased vitiligo risk (9-16 vs 3-8 alleles: OR=2.79, P=0.00063), supporting a polygenic model for vitiligo involving detoxification pathway genes.

Traits studied:Vitiligo
Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes
AssociationN=16,292Rafiq S. et al.(2008)· Diabetologia

A meta-analysis of 4,107 type 2 diabetes cases and 5,187 controls from three GWA studies found no evidence that common variants altering circulating inflammatory protein levels (IL-18, IL-6R, CRP, IL1RN, PAI1, MIF) or variants predisposing to autoimmune diseases (type 1 diabetes, rheumatoid arthritis, Crohn's disease, celiac disease, multiple sclerosis, SLE) are associated with type 2 diabetes risk. For example, rs2250417 in IL18 showed OR=1.00 (95% CI 0.99-1.03) versus the expected OR of ~1.15 if inflammation were causal, suggesting inflammatory markers are likely secondary rather than causative in type 2 diabetes.

Traits studied:Ankylosing spondylitisAutoimmune diseasesC-reactive protein levelsCeliac diseaseCoeliac diseaseCrohn's diseaseIL-1 receptor antagonist levelsIL-18 levelsIL-6 levelsInflammatory diseasesInflammatory protein levelsMacrophage migration inhibitory factor levelsMultiple sclerosisPlasminogen activator inhibitor-1 levelsRheumatoid arthritisSystemic lupus erythematosusType 1 diabetesType 2 diabetes

About LPP

This gene encodes a member of a subfamily of LIM domain proteins that are characterized by an N-terminal proline-rich region and three C-terminal LIM domains. The encoded protein localizes to the cell periphery in focal adhesions and may be involved in cell-cell adhesion and cell motility. This protein also shuttles through the nucleus and may function as a transcriptional co-activator. This gene is located at the junction of certain disease-related chromosomal translocations, which result in the expression of chimeric proteins that may promote tumor growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

View all LPP variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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