Genetics Research
rs4148356
Arginine 723 → Glutamine
Gene: ABCC1 — ATP Binding Cassette Subfamily C Member 1 (ABCC1 Blood Group)
Chr 16:16083418
16p13.11
Missense Variant
Population Frequencies12
African
G 0.99709A 0.00291GG 0.994217GA/AG 0.005753AA 0.00003pop=66,050
African American
G 0.99702A 0.00298GG 0.994071GA/AG 0.005898AA 0.000031pop=63,750
African Others
G 0.9991A 0.0009GG 0.998261GA/AG 0.001739AA 0pop=2,300
Asian
G 0.94657A 0.05343GG 0.895799GA/AG 0.101532AA 0.002669pop=17,236
East Asian
G 0.94427A 0.05573GG 0.891637GA/AG 0.105271AA 0.003092pop=12,938
European
G 0.988744A 0.011256GG 0.977648GA/AG 0.022192AA 0.00016pop=637,800
Latin American 1
G 0.98774A 0.01226GG 0.975472GA/AG 0.024528AA 0pop=11,334
Latin American 2
G 0.93028A 0.06972GG 0.866606GA/AG 0.127348AA 0.006047pop=21,830
Other
G 0.98158A 0.01842GG 0.963911GA/AG 0.035329AA 0.00076pop=39,458
Other Asian
G 0.9535A 0.0465GG 0.908329GA/AG 0.090275AA 0.001396pop=4,298
South Asian
G 0.993A 0.007GG 0.986048GA/AG 0.013952AA 0pop=8,744
Studies29
Unread Studies29 ▼
1
ATP-binding cassette (ABC) proteins are membrane transporters responsible for metabolites and active substances removal from cells. Their genes’ variations have been associated …
2
This scoping review investigates the association between ABCB1 polymorphisms and antidepressant efficacy in humans. A systematic search identified 630 records, of which 58 met …
3
Recent advancements in genomic sciences and precision medicine have led to improved regulatory guidance for pharmacogenomics, particularly in the field of cancer therapies. …
4
ATP‐binding cassette (ABC) transporters are expressed in various human tissues and play a vital role in the efflux of various chemotherapeutic drugs. The current study has assessed …
5
ABC transporters are membrane proteins expressed in the lungs and are crucial for efflux of various chemotherapeutic agents. Polymorphisms of ABC transporters have a …
6
In advanced or metastatic ovarian cancer patients, the therapeutic impact of molecular targeted agents and immunotherapy is limited, and current chemotherapeutic …
7
Lung cancer is the most common neoplasm and the primary cause‐related mortality in developed and in most of nondeveloped countries. Epidemiological studies have demonstrated …
8
A decrease in the clinical efficacy of a 3-day artesunate–mefloquine combination treatment was reported in the areas of multidrug-resistant Plasmodium falciparum along the Thailand–…
9
… a G2168A (rs4148356) mutation, with six in the AEDs-resistant group and three in the AEDs-sensitive group, showing a significant difference in the distribution of G2168A (rs4148356) …
10
… In the second part of our study, we focused on polymorphisms in MRP1 (R723Q, rs4148356)… that showed significant association with SNP in MRP1 (rs4148356) and time to event in 279 …
11
2018 ASCO EDUCATIONAL BOOK| asco. org/edbook controls. There was also a higher prevalence of diabetes (23% vs. 14%), dyslipidemia (9% vs. 6%), and multiple (two or more) …
12
… The nonsynonymous polymorphism G2168A (rs4148356) in exon 17 is strongly associated with reduced MRP1 transport activity leading to increased response to platinum/taxane in pa…
13
Multiple Myeloma (MM) is a progressive malignancy of bone-marrow plasma cells. Treatment typically involves combination chemotherapy, which forms part of a continuing cycle of …
14
Multiple Myeloma (MM) is a progressive malignancy of bone-marrow plasma cells. Treatment typically involves combination chemotherapy, which forms part of a continuing cycle of …
15
… The single-nucleotide polymorphism in MRP1 (rs4148356, R723Q) has also been shown to impact on the clinical outcomes of MM patients (178). The MRP1 mutation Arg723Gln has …
16
… MRP1 or ABCC1 rs4148356 G>A Arg723Gln PFS-OS Buda et al., 2010 [46] … The rs4148356 polymorphism in the MRP1 gene was associated with a longer PFS and OS. …
17
… We confirmed the previously observed lack of effect of rs4148356 (R723Q, 2168G.A) on ABCC1 expression [44]. Also in silico analyses performed by PolyPhen-2 [45] and SIFT [46] …
18
… We confirmed the previously observed lack of effect of rs4148356 (R723Q, 2168G>A) on ABCC1 expression [44]. Also in silico analyses performed by PolyPhen-2 [45] and SIFT [46] …
19
Multidrug resistance presents one of the most important causes of cancer treatment failure. Numerous in vitro and in vivo data have made it clear that multidrug resistance is frequently …
20
… of ABCB1/MDR1/P-glycoprotein 1 SNPs rs1045642 (3435C > T), rs2032582 (2677G > T or A), and rs1128503 (1236C > T) and the functional SNP in ABCC1/MRP1 gene rs4148356 (…
21
… Therefore, association of three SNPs and their haplotypes in MDR1 and one in MRP1 gene (rs4148356) with outcomes in patients (pts) with multiple myeloma (MM) was evaluated. …
22
… enabled classification of patients with altered levels of AUC and CL of TXL (P=0.0037 and 0.0003, respectively); combined genotypes using ABCB1 rs11278503 and ABCC1 rs4148356 …
23
… with relapsed or refractory disease, the polymorphisms in the ABCB1 gene (rs1045642, rs2032582, rs1128503), and the functional polymorphism in the ABCC1 gene (rs4148356), were …
24
Anotace Mnohočetný myelom (MM) patří mezi nádorová onemocnění. Vývoj a zavedení nových léků zatím nepřispěly k úplnému uzdravení, avšak významně přispěly ke zkvalitnění a …
25
Multidrug resistance-associated protein 1 (MRP1/ABCC1) is the first identified member of ABCC subfamily which belongs to ATP-binding cassette (ABC) transporter superfamily. It is …
26
Nádory prsu jsou nejčastějšími malignitami postihujícími ženskou populaci jak u nás, tak i ve světě. Léčba tohoto onemocnění zahrnuje chirurgické odstranění nádoru, radioterapii, …
27
Single nucleotide polymorphisms (SNPs) in the multiple drug resistance protein 1 (MRP1) and P-glycoprotein 1 (MDR1) genes modulate their ability to mediate drug resistance. We …
28
Multidrug resistancerelated protein 1 (MRP1), an ATPbinding cassette transporter encod ed by the ABCC1 gene, is expressed in many tissues, and functions as an effiux transporter for …
29
Information about linkage disequilibrium (LD) patterns and haplotype structures for candidate genes is instructive for the design and analysis of genetic association studies for complex …
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 ▼
No unused studies.