rs3758149

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

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Research that mentions this SNP (2)

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Influence of genetic polymorphisms of FPGS, GGH, and MTHFR on serum methotrexate levels in Chinese children with acute lymphoblastic leukemia
AssociationN=91Shu-mei Wang et al.(2014)· Cancer Chemotherapy and Pharmacology

This study investigated how genetic polymorphisms in FPGS (rs1544105), GGH (rs3758149), and MTHFR (rs1801133) affect serum methotrexate levels and metabolism in 91 Chinese children with acute lymphoblastic leukemia. The GGH rs3758149 CC genotype was associated with significantly lower MTX C/D ratios at 24 hours (12.09 vs 16.80 µmol/l per g/m², P < 0.05) in female patients, and the A-T-T haplotype was associated with higher MTX levels above therapeutic threshold (47.4% vs 19.4%, P = 0.01). The findings identify a novel gender-specific pharmacogenetic effect not previously documented in MTX metabolism.

Traits studied:Acute lymphoblastic leukemiaHepatotoxicityMethotrexate serum concentrationMyelosuppression
PubMedDOIMetascience Observatory
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Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population
AssociationN=2,079Tonia C. Carter et al.(2011)· American Journal of Medical Genetics Part A

This case-control and family-based study evaluated 64 SNPs in 34 genes for associations with spina bifida in 558 Irish case-families and 994 controls. Spina bifida was significantly associated with LEPR rs1805134 (GRR: 1.5, P = 0.0264) and COMT rs737865 (GRR: 1.4, P = 0.0206), with additional confirmations of previous findings in MTHFR 677C>T and other genes, suggesting roles for leptin signaling and methylation pathways in neural tube defect pathogenesis.

Traits studied:Neural tube defectsSpina bifida
PubMedDOIMetascience Observatory

About GGH

This gene catalyzes the hydrolysis of folylpoly-gamma-glutamates and antifolylpoly-gamma-glutamates by the removal of gamma-linked polyglutamates and glutamate. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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