Genetics Research
rs16950650
Gene: ABCC4 — ATP Binding Cassette Subfamily C Member 4 (PEL Blood Group)
Chr 13:95123178
13q32.1
Intron Variant
Population Frequencies12
African
C 0.89061T 0.10939CC 0.793617CT/TC 0.193978TT 0.012405pop=49,820
African American
C 0.89125T 0.10875CC 0.794732CT/TC 0.193034TT 0.012234pop=48,064
African Others
C 0.873T 0.127CC 0.763098CT/TC 0.219818TT 0.017084pop=1,756
Asian
C 0.9758T 0.0242CC 0.952005CT/TC 0.047579TT 0.000416pop=9,626
East Asian
C 0.9784T 0.0216CC 0.957154CT/TC 0.042586TT 0.00026pop=7,702
European
C 0.984258T 0.015742CC 0.96883CT/TC 0.030857TT 0.000313pop=351,236
Latin American 1
C 0.951T 0.049CC 0.904374CT/TC 0.093299TT 0.002327pop=8,596
Latin American 2
C 0.98098T 0.01902CC 0.96212CT/TC 0.037717TT 0.000163pop=12,302
Other
C 0.9664T 0.0336CC 0.934334CT/TC 0.064131TT 0.001535pop=11,726
Other Asian
C 0.9652T 0.0348CC 0.931393CT/TC 0.067568TT 0.00104pop=1,924
South Asian
C 0.9831T 0.0169CC 0.967643CT/TC 0.030817TT 0.001541pop=1,298
Studies10
Unread Studies10 ▼
1
Fluoropyrimidines are one of the most used drug class to treat cancer patients, although they show high levels of associated toxicity. This study analyzed 33 polymorphisms in …
2
Pharmacogenomics is an evolving tool of precision medicine. Recently, due to the introduction of next-generation sequencing and projects generating “Big Data”, a plethora of new …
3
Single nucleotide polymorphisms (SNPs) in Pharmacogenetics can play an important role in the outcomes of the chemotherapy treatment in Neuroblastoma, helping doctors maximize efficacy and minimize toxicity. Employing AgenaBioscience MassArray, 96 SNPs were genotyped in 95 patients looking for associations of SNP with response to induction therapy (RIT) and grade 3–4 toxicities, in High Risk patients. Associations of SNPs with overall (OS) and event-free (EFS) survival in the whole cohort were also explored. Cox and logistic regression models with Elastic net penalty were employed. Association with grade 3–4 gastrointestinal and infectious toxicities was found for 8 different SNPs. Better RIT was correlated with rs726501 AG, rs3740066 GG, rs2010963 GG and rs1143684 TT (OR = 2.87, 1.79, 1.23, 1.14, respectively). EFS was affected by rs2032582, rs4880, rs3814058, rs45511401, rs1544410 and rs6539870. OS was influenced by rs 1801133, rs7186128 and rs1544410. Remarkably, rs1801133 in MTHFR (p = 0.02) and rs1544410 in VDR (p = 0.006) also added an important predictive value for OS to the MYCN status, with a more accurate substratification of the patients. Although validation studies in independent cohorts will be required, the data obtained supports the utility of Pharmacogenetics for predicting Neuroblastoma treatment outcomes.
4
MRP4 is an ABC membrane transporter involved in clinical outcomes as it is located in many tissues that manages the transport and the elimination of many drugs. This review explores …
5
Cancer pharmacogenomics is the science concerned with understanding genetic alterations and its effects on the pharmacokinetics and pharmacodynamics of anti-cancer drugs, with …
6
Induction chemotherapy in locally-advanced head and neck squamous cell carcinoma (LAHNSCC) patients is potentially associated to serious adverse events. Biomarkers associated with toxicity could tailor its indication. This study evaluated the association between single-nucleotide polymorphisms (SNPs) in metabolic genes and toxicity to induction chemotherapy.
7
MRP4 is an ABC membrane transporter involved in clinical outcomes as it is located in many tissues that manages the transport and the elimination of many drugs. This review explores …
8
We conducted a genome-wide association study (GWAS) to identify single nucleotide polymorphisms (SNPs) influencing overall survival (OS) of small-cell lung cancer (SCLC) patients. …
9
本文受杭州市重大科技创新项目 (No. 20112313A01) 资助作者单位: 310053 杭州, 浙江中医药 大学第二临床医学院 (吴侃); 310006 杭州, 杭州市第一人民医院医疗集团, 杭州市肿瘤医院放疗…
10
The prognosis of patients with extensive-disease small-cell lung cancer (ED-SCLC) remains poor. Despite a high initial response rate to chemotherapy, most patients …
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.