rs440454

This variant is located in the SKIC2 gene.

▶

GWAS Catalog Trait Associations (3)

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

diastolic blood pressure

Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)
Allele A
OR 0.25
p 2.0e-26
N 526,001
Large GWAS
European

BMI-adjusted waist circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele A
OR 0.02
p 2.0e-10
N 186,825
Major Consortium StudyLarge GWAS
European
▶

ClinVar annotation

Benign★☆☆☆
2 submitters

not provided; Malignant lymphoma, large B-cell, diffuse

View on ClinVar →
▶

Research that mentions this SNP (1)

▶
MHC region and risk of systemic lupus erythematosus in African American women
AssociationN=1,145Ruiz-Narvaez EA et al.(2011)· Human Genetics

Case-control study in 380 African-American SLE cases and 765 controls identified four independent SNPs in the MHC region associated with systemic lupus erythematosus. The strongest signal was rs9271366 (OR=1.70, p=5.6×10⁻⁵) near HLA-DRB1, with conditional analysis revealing three additional independent variants: rs204890 (OR=1.86, p=1.2×10⁻⁴) in ATF6B, rs2071349 (OR=1.53, p=1.0×10⁻³) in HLA-DPB1, and rs2844580 (OR=1.43, p=1.3×10⁻³) near HLA-B/MICA. A combined genotype score showed additive risk with OR=1.67 per high-risk allele (p<0.0001).

Traits studied:SLE with abnormal antinuclear antibody titersSLE with arthritisSLE with hematologic disorderSLE with immunologic disorderSLE with renal disorderSLE with serositisSLE with skin manifestationsSystemic lupus erythematosus
PubMedDOIMetascience Observatory

About SKIC2

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a human homologue of yeast SKI2 and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]

View all SKIC2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…