rs10883365
This is a coding sequence variant variant in the LINC01475 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
hypothyroidism
▶Research that mentions this SNP (4)
▶Unbiased estimation of odds ratios: combining genomewide association scans with replication studiesMethodsJack Bowden et al.(2009)· Genetic Epidemiology
This paper presents a statistical method for unbiased estimation of odds ratios from genome-wide association scans combined with replication studies. The authors develop a Uniformly Minimum Variance Conditionally Unbiased Estimator (UMVCUE) that corrects for selection bias arising from both rank ordering and significance thresholding in initial scans. Applied to type 1 diabetes and Crohn's disease data from the Wellcome Trust Case Control Consortium, the method shows improved efficiency over replication-only estimates, particularly when replication sample sizes are smaller.
▶Genetic variants in surfactant, pulmonary-associated protein D (SFTPD) and Japanese susceptibility to ulcerative colitisAssociationN=864Michihiro Tanaka et al.(2009)· Inflammatory Bowel Diseases
A case-control association study in Japanese population examining SFTPD variants and susceptibility to ulcerative colitis (UC). The minor allele G of rs911887 showed significant association with UC (p=9E-4). A haplotype comprising rs911887 and rs2243639 (Ala160Thr) was significantly associated with UC susceptibility (p=7E-4), and NKX2-3 association was replicated.
▶Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetesAssociationN=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.
▶Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatmentReviewJürgen Brockmöller et al.(2008)· European Journal of Clinical Pharmacology
This comprehensive review article traces the evolution of pharmacogenetics from single-gene analysis to whole-genome approaches. It discusses validated pharmacogenetic biomarkers with clinical impact including CYP2D6, CYP2C9, CYP2C19, TPMT, DPD, VKORC1, UGT1A1, and ADRB1/ADRB2, providing examples of how genetic variants affect drug metabolism and response. The paper emphasizes the importance of integrating pharmacogenetic information into clinical practice and drug development.
This variant is in our database but has no known associations or PRS memberships yet.
Gene information from NCBI Gene. Variant classifications from ClinVar.
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