Genetics Research
rs36103319
Glycine 220 → Alanine
Gene: SLC22A1 — Solute Carrier Family 22 Member 1
Chr 6:160132375
6q25.3
Missense Variant
Population Frequencies7
African
G 0.99884T 0.00116GG 0.997678GT/TG 0.002322TT 0pop=51,676
African American
G 0.9988T 0.0012GG 0.997591GT/TG 0.002409TT 0pop=49,808
European
G 0.999927T 0.000073GG 0.999853GT/TG 0.000147TT 0pop=422,844
Latin American 1
G 0.9994T 0.0006GG 0.998868GT/TG 0.001132TT 0pop=7,066
Latin American 2
G 0.99936T 0.00064GG 0.998724GT/TG 0.001276TT 0pop=10,972
Other
G 0.99981T 0.00019GG 0.999616GT/TG 0.000384TT 0pop=26,042
Studies24
Unread Studies24 ▼
1
Diabetes is a chronic disease that affects approximately 589 million people worldwide. Type 2 diabetes is one of its main forms (~90%) and manifests as hyperglycemia due to the …
2
Cancer drug resistance constitutes a severe limitation for the satisfactory outcome of these patients. This is a complex problem due to the co-existence in cancer cells of multiple and …
3
La Diabetes Mellitus tipo 2 (DM2) es una enfermedad crónica caracterizada por hiperglucemia, resultado de una alteración en la producción, liberación o acción de la insulina. Es …
4
[ES] El colangiocarcinoma (CCA) es el segundo tipo de tumor hepático primario más frecuente, después del carcinoma hepatocelular (HCC). Una de las mayores dificultades con las …
5
La metformina es un hipoglicemiante ampliamente utilizado en el tratamiento de mujeres con síndrome de ovario poliquístico (SOP) por su acción como sensibilizante a la insulina, …
6
Despite the latest advances in hepatocellular carcinoma (HCC) screening and treatment modalities, HCC is still representing a global burden. Most HCC patients present at later stages …
7
Simple Summary Hepatocellular carcinoma (HCC) represents a worldwide health challenge, ranking globally as the third most common cause of cancer-related mortality. Current …
8
Mekanisme kerja metformin dipengaruhi oleh Organic Cation Transporter 1 (OCT1) yang dikode oleh gen SLC22A1. Variasi atau polimorfisme pada gen SLC22A1 mempengaruhi …
9
Tyramine, formed by the decarboxylation of tyrosine, is a natural constituent of numerous food products. As an indirect sympathomimetic, it can have potentially dangerous hypertensive …
10
… Of much rarer distribution, the following variants have only been assayed in vitro: rs34104736 (Ser189Leu) and rs36103319 (Gly220Val) have been involved with reduced MET transport…
11
La Diabetes Mellitus (DM), es un trastorno metabólico caracterizado principalmente por hiperglucemia de manera persistente, pudiendo ser causada por un defecto en la síntesis de …
12
Cytochrome P450 3A (CYP3A) isoenzyme metabolic activity varies between individuals and is therefore a possible candidate of influence on the therapeutic outcome of …
13
Human organic cation transporter 1 (hOCT1) is expressed primarily in hepatocytes and mediate the electrogenic transport of various endogenous and exogenous compounds, including …
14
… The G220V (rs36103319) variant has thus far only been observed in the African American population with MAF of 0.5%, whereas, the G465R (rs34059508) was only observed in the …
15
Organic cation transporter (OCT) 1could influence an individual’s response to various treatments and increase their susceptibility to diseases. Genotypic and allelic frequencies of …
16
Insulin-sensitizer treatment with metformin is common in polycystic ovary syndrome (PCOS). OCT alleles were investigated in PCOS patients to identify genetic ‘bad responders‘ and ‘…
17
Solute carrier transporters belonging to the major facilitator family of membrane transporter are increasingly being recognized as a possible mechanism to explain inter-individual …
18
Although the prognosis of chronic myeloid leukemia (CML) patients treated with imatinib is good, many fail to develop an optimal response or lose one. This heterogeneity could be …
19
Reduced drug uptake is an important mechanism of chemoresistance. Down‐regulation of SLC22A1 encoding the organic cation transporter‐1 (OCT1) may affect the response of …
20
Metformin is a biguanide derivative used in the treatment of type II diabetes (T2D) and one of the world's most widely prescribed drugs. Owing to its safety profile, it has been recently …
21
According to the Slovenian guidelines, metformin, an oral antidiabetic drug, is a drug of choice for the treatment of type 2 diabetes. Additionally, metformin is …
22
Changes in the uptake of many drugs by the target cells may dramatically affect the pharmacological response. Thus, downregulation of SLC22A1, which encodes the organic cation …
23
The aim of this study was to investigate the genetic diversity of the SLC22A1 gene and to deduce its possible pharmacogenetic implications within the Cape Coloured population of …
24
Epilepsy is a common serious neurological disorder affecting approximately 50 million people worldwide. The mainstay of treatment is the use of antiepileptic drugs (AEDs)…
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.
No curated studies yet.
Unused Studies0 ▼
No unused studies.