rs12286037

This is a intron variant variant in the ZPR1 gene.

▶

GWAS Catalog Trait Associations (5)

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

triglyceride measurement

Willer CJ et al. “Newly identified loci that influence lipid concentrations and risk of coronary artery disease.” Nature Genetics 40(2):161-9 (2008)
Allele T
OR 25.82
p 1.0e-26
N 8,684
Large GWAS
European

metabolic syndrome

Kraja AT et al. “A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.” Diabetes 60(4):1329-39 (2011)
Allele C
OR 0.32
p 1.0e-8
N 22,161
Major Consortium StudyLarge GWAS
European

lipoprotein-associated phospholipase A(2) measurement

Suchindran S et al. “Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study.” Plos Genetics 6(4):e1000928 (2010)
Allele T
OR 6.40
p 4.0e-8
N 6,668
CohortLarge GWAS
European
▶

Research that mentions this SNP (1)

▶
Association of TGFBR2 rs6785358 Polymorphism with Increased Risk of Congenital Ventricular Septal Defect in a Chinese Population
AssociationN=3,000Xiang-Ting Li et al.(2015)· Pediatric Cardiology

This association study examined 141 tag SNPs in 8 transforming growth factor-beta (TGFβ) signaling pathway genes (SMAD2, SMAD3, SMAD4, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2) in 3,000 Taiwanese subjects (2,467 without metabolic syndrome, 533 with) to assess associations with metabolic syndrome (MetS). The study found significant associations with SMAD2 rs11082639 (OR=1.66, 95% CI=1.32-2.08, P=1.4×10⁻⁵ in additive model) and TGFBR2 rs3773651 (OR=1.50, 95% CI=1.04-2.15, P=0.0285 in additive model), which remained significant after Bonferroni correction. SMAD2 rs11082639 was specifically associated with high waist circumference. Gene-gene interaction analysis revealed a significant interaction between SMAD2 and TGFBR2 variants influencing MetS risk.

Traits studied:blood pressurefasting glucosehigh-density lipoprotein cholesterolmetabolic syndrometriglyceridewaist circumference
PubMedDOIMetascience Observatory

About ZPR1

The protein encoded by this gene is found in the cytoplasm of quiescent cells but translocates to the nucleolus in proliferating cells. The encoded protein interacts with survival motor neuron protein (SMN1) to enhance pre-mRNA splicing and to induce neuronal differentiation and axonal growth. Defects in this gene or the SMN1 gene can cause spinal muscular atrophy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

View all ZPR1 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…