CHROMOSOME 8 GGH 8q12.3 GENE VIEW GGH · 8q12.3 8q11 8q13 rs719235 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs719235 C / A · GGH · 8q12.3 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A C Cytosine — reference allele A Adenine — variant allele genetics.jdge.cc

rs719235

Gene: GGH — Gamma-Glutamyl Hydrolase Chr 8:63039122 8q12.3 2KB upstream variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.751857A 0.248143CC 0.571672CA/AC 0.36037AA 0.067958pop=274,906
African C 0.94386A 0.05614CC 0.890366CA/AC 0.106985AA 0.002648pop=36,248
African American C 0.94213A 0.05787CC 0.887003CA/AC 0.110245AA 0.002752pop=34,886
African Others C 0.9883A 0.0117CC 0.976505CA/AC 0.023495AA 0pop=1,362
Asian C 0.8728A 0.1272CC 0.763781CA/AC 0.218065AA 0.018154pop=9,034
East Asian C 0.8797A 0.1203CC 0.775324CA/AC 0.208667AA 0.016009pop=7,246
European C 0.710636A 0.289364CC 0.504305CA/AC 0.412661AA 0.083034pop=210,686
Latin American 1 C 0.8171A 0.1829CC 0.662692CA/AC 0.308915AA 0.028393pop=3,522
Latin American 2 C 0.8038A 0.1962CC 0.647155CA/AC 0.313368AA 0.039477pop=7,346
Other C 0.7727A 0.2273CC 0.604712CA/AC 0.335951AA 0.059337pop=6,876
Other Asian C 0.8451A 0.1549CC 0.717002CA/AC 0.256152AA 0.026846pop=1,788
South Asian C 0.6491A 0.3509CC 0.407035CA/AC 0.484087AA 0.108878pop=1,194

Studies30

Unread Studies30
1
… At six months, those who carried one or more G alleles at MTHFR (rs1801131) had significantly lower SBP (p = 0.027), those who carried a CC genotype at GGH (rs719235) had …
2
This study aims to explore possible susceptibility genes and clinical features for systemic lupus erythematosus (SLE) patients in a Chinese population. Methods Expanding on …
3
This article discusses the rationale and design of the study “Methotrexate, blood pressure, and arterial function in rheumatoid arthritis”. The recognition that immune activation and …
4
Carcinogenesis is closely related to the expression, maintenance, and stability of DNA. These processes are regulated by one-carbon metabolism (1CM), which involves several …
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Carcinogenesis is closely related to the expression, maintenance, and stability of DNA. These processes are regulated by one-carbon metabolism (1CM), which involves several …
6
High-dose methotrexate (HD-MTX) is widely used in the treatment of non-Hodgkin lymphoma (NHL), but the pharmacokinetic properties of HD-MTX in Chinese adult patients …
7
To develop a pharmacogenetic and clinical model to predict effectiveness outcomes in a cohort of patients diagnosed with rheumatoid arthritis (RA) treated with …
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To develop a pharmacogenetic and clinical model to predict effectiveness outcomes in a cohort of patients diagnosed with rheumatoid arthritis (RA) treated with methotrexate or …
9
… In our study, GGH rs719235 T carriers had shorter PFS compared to GG genotype group (P = … This was consistent with the report suggesting GGH rs719235 was not associated with …
10
目的探讨亚甲基四氢叶酸脱氢酶(mthfd1), 叶酰多聚谷氨酸合成酶(fpgs) 和γ-谷氨酰水解酶(ggh) 的基因多态性与大剂量甲氨蝶呤(hd-Mtx) 对非霍奇金淋巴瘤(nhl) 患者中枢治疗效果之…
11
Being an anti-metabolite and anti-inflammatory agent, Methotrexate, a folate analogue, is indicated for a wide spectrum of diseases including moderate to severe chronic inflammatory …
12
… link between the polymorphisms FPGS rs10106 and GGH rs719235 with toxicity. This is not … Jekic [Citation22] showed that RA patients with GGH rs719235-GG genotype experienced …
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… However, the distributions of 2 SNPs of FPGS (rs10106 and rs154410) and 2 SNPs of GGH (rs719235 and rs12681874) showed significant differences between Caucasians and our …
14
Methotrexate (MTX) is the most used drug for the treatment of rheumatoid arthritis (RA) although outcome differs among patients. Aim: To evaluate whether polymorphisms …
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3’-UTR: 3’-untranslated region 5’-UTR: 5’-untranslated region 5, 10-CH2THF: 5, 10-methylenetetrahydrofolate ABC: ATP-binding cassette ACR: american college of rheumatology …
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Methotrexate (MTX) is the cornerstone medication in the treatment of rheumatoid arthritis (RA). We examined whether single nucleotide polymorphisms (SNPs) in enzymes of …
17
Survival in follicular lymphoma (FL) is highly variable, even within prognostic groups defined by tumor grade and the Follicular Lymphoma International Prognostic Index. …
18
Despite the voluminous body of observational evidence concerning the role of miRNAs in cancer, significant knowledge gaps remain concerning the molecular circumstances that …
19
Methotrexate (MTX) is the anchor disease-modifying antirheumatic drug (DMARD) in rheumatoid arthritis (RA) treatment. It is used in monotherapy and/or in combination with other …
20
The copy number of DNA segments in the human genome varies in normal individuals and most likely this diversity is responsible for a significant proportion of phenotypic variation. Not …
21
Although therapeutic effects elicited by low-dose MTX treatment may involve mechanisms distinct from those observed with high-dose MTX treatment, there are overlapping …
22
The advent of small noncoding RNAs as important modulators of cancer susceptibility and progression has gained widespread recognition in recent years. This understanding was …
23
In this decade, the field of pharmacogenomics (PGx), which is related to pharmacokinetics (PK) or pharmacodynamics (PD), has attracted much attention because it may provide a …
24
Individual studies of the genetics of neural tube defects (NTDs) contain results on a small number of genes in each report. To identify genetic risk factors for NTDs, we evaluated …
25
The role of inherited (host) genetic susceptibility in the pathogenesis of follicular lymphoma (FL) is reviewed. First degree relatives of FL patients are at an increased risk of FL, …
26
Non-Hodgkin lymphoma (NHL) is a commonly diagnosed cancer in the United States that exhibits poor survival as only half of people diagnosed with NHL survive 5 years following …
27
… In FL, FTHFD (rs1127717) AG/GG, MTHFR (rs1801131) AC/CC and GGH (rs719235) GT/TT genotypes were associated with overall survival with HRs of 1.99 (95% CI=1.07–3.7), 2.00 (…
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β-thalassemia/Hb E disease is one of the most common thalassemias in Southeast Asia. Patients with compound heterozygote for Hb E and β mutant alleles display remarkable …
29
γ-Glutamyl hydrolase (GGH) catalyzes degradation of the active polyglutamates of natural folates and the antifolate methotrexate (MTX). We found that GGH activity is directly related to …
30
Drug-related toxicities represent an important clinical concern in chemotherapy, genetic variants could help tailoring treatment to patient. A pharmacogenetic multicentric study was …
Curated Studies0

These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

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Unused Studies0

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