rs3755724

This is a regulatory region variant variant in the SYN2 gene.

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GWAS Catalog Trait Associations (1)

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

hypothyroidism

Wei Y et al. “Genome-wide association studies of thyroid-related hormones, dysfunction, and autoimmunity among 85,421 Chinese pregnancies.” Nature Communications 15(1):8004 (2024)
Allele C
OR 1.17
p 9.0e-10
N 73,050
Large GWAS
East Asian
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Research that mentions this SNP (2)

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Association of MMP3 and TIMP2 promoter polymorphisms with nonsyndromic oral clefts
AssociationN=2,288Ariadne Letra et al.(2012)· Birth Defects Research Part A: Clinical and Molecular Teratology

Association study of MMP3 and TIMP2 promoter polymorphisms with nonsyndromic oral clefts in Brazilian case-control (494 cases, 413 controls) and US family-based (881 families) cohorts. MMP3 rs522616 showed strong association with all clefts (P=0.00002), cleft lip/palate (P=0.0009), and cleft palate (P=0.006). TIMP2 rs8179096 associated with all clefts (P=0.004), cleft lip/palate (P=0.01), and cleft palate (P=0.02). Significant gene-gene interaction between MMP3-TIMP2 detected (P=0.000001).

Traits studied:Cleft lipCleft lip and palateCleft palateNonsyndromic oral clefts
PubMedDOIMetascience Observatory
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Promoter Polymorphism (rs3755724, -55C/T) of Tissue Inhibitor of Metalloproteinase 4 (TIMP4) as a Risk Factor for Kawasaki Disease with Coronary Artery Lesions in a Korean Population
AssociationN=351Ju Yeon Ban et al.(2009)· Pediatric Cardiology

This case-control study examined two SNPs in the TIMP4 gene (tissue inhibitor of metalloproteinase 4) in 101 Korean Kawasaki disease patients and 250 controls. The rs3755724 promoter polymorphism (-55C/T) showed a significant association with coronary artery lesion (CAL) development in KD patients in a recessive model (P = 0.02; OR 0.31; 95% CI 0.11-0.85), with the C allele conferring increased CAL risk. The rs17035945 variant showed no association.

Traits studied:Kawasaki diseasecoronary artery lesions
PubMedDOIMetascience Observatory

About SYN2

This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family encodes a neuron-specific phosphoprotein that selectively binds to small synaptic vesicles in the presynaptic nerve terminal. Polymorphisms in this gene are associated with abnormal presynaptic function and related neuronal disorders, including autism, epilepsy, bipolar disorder and schizophrenia. Alternative splicing of this gene results in multiple transcript variants. The tissue inhibitor of metalloproteinase 4 gene is located within an intron of this gene and is transcribed in the opposite direction. [provided by RefSeq, Feb 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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