rs8109288

This is a intron variant variant in the TPM4 gene.

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GWAS Catalog Trait Associations (2)

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

platelet volume

Gieger C et al. “New gene functions in megakaryopoiesis and platelet formation.” Nature 480(7376):201-8 (2011)
Allele A
OR 0.03
p 1.0e-11
N 18,600
Large GWAS
European
Qayyum R et al. “A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.” Plos Genetics 8(3):e1002491 (2012)
Allele A
OR 0.26
p 3.0e-9
N 16,388
Meta-analysisLarge GWAS
African American or Afro-Caribbean

platelet count

Gieger C et al. “New gene functions in megakaryopoiesis and platelet formation.” Nature 480(7376):201-8 (2011)
Allele G
OR 11.95
p 3.0e-10
N 48,666
Large GWAS
European
Qayyum R et al. “A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.” Plos Genetics 8(3):e1002491 (2012)
Allele G
OR 8.72
p 5.0e-10
N 16,388
Meta-analysisLarge GWAS
African American or Afro-Caribbean
Schick UM et al. “Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans.” American Journal of Human Genetics 98(2):229-42 (2016)
Allele G
OR 13.83
p 2.0e-8
N 12,491
Large GWAS
Hispanic or Latin American
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Research that mentions this SNP (2)

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A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects
AssociationN=13,582Khader Shameer et al.(2014)· Human Genetics

A genome-wide association study (GWAS) of platelet count (PLT) and mean platelet volume (MPV) in 13,582 and 6,291 participants respectively from the eMERGE network identified 5 chromosomal regions associated with PLT and 8 with MPV at genome-wide significance (P<5E-8). Key findings include variants in ARHGEF3 (rs1354034, P=6E-24 for PLT; P=9E-34 for MPV), SH2B3 (rs3184504, P=5E-12), and multiple other loci. The study replicated 20 SNPs for PLT and 22 for MPV from prior meta-analyses and demonstrated pleiotropic effects with myocardial infarction, autoimmune, and hematologic disorders through phenome-wide association study (PheWAS).

Traits studied:Autoimmune disordersBlood pressureEosinophil countHematologic disordersMean platelet volume (MPV)Myocardial infarctionPlatelet count (PLT)Type 1 diabetes
PubMedDOIMetascience Observatory
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Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans
AssociationN=30,551Ken Sin Lo et al.(2011)· Human Genetics

Genetic association study in 23,439 Caucasians and 7,112 African Americans identified novel loci modulating hematological traits. G6PD rs1050828 (Val68Met) shows strong association with red blood cell count, hemoglobin, hematocrit, and mean corpuscular volume in African Americans (P < 2.0 × 10^−13), while TPM4 rs8109288 associates with platelet count in both Caucasians and African Americans (P = 3.0 × 10^−7). HBA2-HBA1 rs1211375 associates with red blood cell traits specifically in African Americans (P < 7 × 10^−8). Study replicated 36 previously reported associations and highlights ethnic differences in genetic architecture of blood traits.

Traits studied:Basophil countEosinophil countHematocritHemoglobinLymphocyte countMean corpuscular hemoglobinMean corpuscular hemoglobin concentrationMean corpuscular volumeMean platelet volumeMonocyte countNeutrophil countPlatelet countRed blood cell countWhite blood cell count
PubMedDOIMetascience Observatory

About TPM4

This gene encodes a member of the tropomyosin family of actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosins are dimers of coiled-coil proteins that polymerize end-to-end along the major groove in most actin filaments. They provide stability to the filaments and regulate access of other actin-binding proteins. In muscle cells, they regulate muscle contraction by controlling the binding of myosin heads to the actin filament. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009]

View all TPM4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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