CHROMOSOME 16 ABCC1 16p13.11 GENE VIEW ABCC1 · 16p13.11 16p14 16p12 rs119774 — ~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 rs119774 C / A · ABCC1 · 16p13.11 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

rs119774

Gene: ABCC1 — ATP Binding Cassette Subfamily C Member 1 (ABCC1 Blood Group) Chr 16:15992976 16p13.11 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.940316T 0.059684CC 0.884499CT/TC 0.111635TT 0.003866pop=316,586
African C 0.98321T 0.01679CC 0.966804CT/TC 0.032813TT 0.000383pop=36,510
African American C 0.98281T 0.01719CC 0.966011CT/TC 0.03359TT 0.000399pop=35,070
African Others C 0.9931T 0.0069CC 0.986111CT/TC 0.013889TT 0pop=1,440
Asian C 0.9961T 0.0039CC 0.992282CT/TC 0.007718TT 0pop=9,588
East Asian C 0.9978T 0.0022CC 0.99561CT/TC 0.00439TT 0pop=7,744
European C 0.930926T 0.069074CC 0.866482CT/TC 0.128889TT 0.00463pop=250,992
Latin American 1 C 0.9554T 0.0446CC 0.914124CT/TC 0.082486TT 0.00339pop=3,540
Latin American 2 C 0.9608T 0.0392CC 0.922769CT/TC 0.076162TT 0.001069pop=7,484
Other C 0.9477T 0.0523CC 0.898678CT/TC 0.098018TT 0.003304pop=7,264
Other Asian C 0.9892T 0.0108CC 0.978308CT/TC 0.021692TT 0pop=1,844
South Asian C 0.9363T 0.0637CC 0.875828CT/TC 0.120861TT 0.003311pop=1,208

Studies48

Unread Studies48
1
… C member 1,ABCC1)基因rs119774 位点,溶质载体有机阴离 子… 一代测序法对患儿的ABCC1 基因rs119774 位 点,SLCO2B1 基因… 结果治疗前与治 疗12 周后,ABCC1 基因rs119774 位点CC 型…
2
The definition of asthma has evolved over the years with significant heterogeneity of the disease increasingly recognized. Complex gene and environment interactions result in different …
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Personalize medicine/precision medicine/stratified medicine/targeted medicine/pharmacogenomics, as the name suggests, refers to the medicines that are designed and formulated …
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… A polymorphism of this gene (rs119774 in LTC4) was associated with the montelukast treatment response, and individuals heterozygous for rs119774 had 24% elevated FEV1 …
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Pharmacogenetics research on leukotriene modifiers (LTMs) for asthma has been developing rapidly, although pharmacogenetic testing for LTMs is not yet used in clinical practice. We …
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… Of note, SNPs in the ABCC1 gene (rs119774) have been associated with variability in montelukast (leukotriene inhibitor) treatment responses in patients with asthma (18, 19). …
7
Asthma is a chronic disease of the airways characterized by inflammation, tightened muscles, and thickened airway walls leading to symptoms such as shortness of breath, chest …
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… with the genotype of the ABCC1 intronic variant rs119774, in a study carried out by Lima et al. … The two studies on the SNV rs119774 (C/T) are consistent and add up to more than 800 …
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… LTRA response in association with MRP1 rs119774 C>T has been studied in three studies [98, 133, 136]. The first two studies (n = 300 children and adults with asthma) showed ~24% …
10
Asthma is a common condition that affects large numbers of children and adults, yet the burden of disease is not equally distributed amongst groups. In the United States, …
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Asthma is one of the most significant diseases worldwide and causes overwhelming costs physically and economically. The study of asthma has revealed various groups …
12
… The multidrug resistance-associated protein 1 (ABCC1) was also associated with the FEV1 response to montelukast though the genetic polymorphism of rs119774 [81]. Significant …
13
… There was a significant association between rs119774 and changes in FEV1% pred (P < 0.05). Heterozygotes for the T allele had 24% improvement (95% CI: −0.105 to 0.577) in the …
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… Subjects homozygote for the minor allele from ALOX5 rs2115891 and from MRP1 rs119774 had an improved forced expiratory volume in 1 s (FEV1) compared with subjects with the …
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39 Глава 2. Бронхиальная астма исследования, возрастают требования к вычислительной технике и биоинформатическим методам для интерпретации огромного …
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… One of the polymorphisms of this gene (rs119774 in LTC4) had been correlated to montelukast response. Lima et al. observed that in heterozygous individuals for this polymorphism …
17
… For example the rs119774 SNP in the multidrug resistance associated protein 1 (ABCC1) gene has been associated with an improved FEV 1 -based clinical response to both zileuton …
18
… to montelukast were identified for ABCC1 rs119774 and ALOX5 rs2115819 for FEV 1 … and the findings for ALOX5 rs2115819 and ABCC1 rs119774 were replicated. Citation72 In …
19
… MRP1 (rs215066 and rs119774) associated with FEV 1 response to zileuton treatment [13] . … in ALOX5 (rs2115819) and MRP1 (rs119774) associated with FEV 1 percentage change …
20
En los últimos años se está tratando de comprender las bases genéticas de las enfermedades complejas, entre ellas el asma. Por desgracia en esta enfermedad no se ha llegado …
21
… name ABCC1), that is, rs119774 have been associated with montelukast response (change … associated with responses to zileuton, including the rs119774 SNP, confirming the potential …
22
… Percentage increase in FEV1 (% of predicted) over baseline after 6 months of montelukast treatment in patients with the MRP1 rs119774 and ALOX5 rs2115819 genotypes. …
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Respiratory disease refers to the broad category of illnesses affecting the upper and lower airways, the lung parenchyma, and the pulmonary vasculature. To date, however, studies …
24
本稿は 「喘息治療・管理ガイドライン 2009」 のワンポイント解説のシリーズの 1 つで, 小児気管支喘息 の長期管理についてワンポイントレッスンを記載するものである. しかし, 昨年 (平成 23 年) 10 月に…
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In a previous in vitro study, we showed that the Arg723Gln (2168G > A) polymorphism significantly ABCC1‐induced multidrug resistance. The aim of the present study was to further …
26
… 1 , one in the ALOX5 gene (rs2115819), which was later replicated in a zileuton treatment response study, 73 and the other in the MRP1 (multidrug resistance protein 1) gene (rs119774)…
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… were not replicated by another group however; they did find that a SNP in ALOX5 ( rs21145189), and MRP1, a multidrug resistance-associated protein which is a transporter, (rs119774) …
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Major classes of medication in asthma management include bronchodilating β2-agonists, anti-inflammatory inhaled corticosteroids, leukotriene modifiers and theophyllines. However, …
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… study of multi-drug related protein 1 (MRP1), one of the LTC4 transmembrane transporters for the extracellular space, showed that the presence of the T allele (intronic SNP, rs119774) …
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Asthma is a chronic airway disease with a relatively high prevalence. Although the etiology of asthma is still not fully clear, there are effective treatments available. The treatment strategy …
31
Inhaled glucocorticoids, also know as corticosteroids (ICS), revolutionized the treatment of asthma by suppressing airways inflammation and ICS therapy now forms the basis of …
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… [26] found two SNPs (ALOX rs2115819 and ABCC1 rs119774) associated with improvement in lung function on zileuton that had been previously associated with improvement FEV 1 …
33
Leukotrienes are now established contributors to the inflammatory process in asthma, and leukotriene modifiers are mainstays in the therapy of asthma. This review focuses on …
34
… genes were associated with longitudinal forced expiratory volume at 1 s in response to zileuton (P values 0.005–0.05), including two SNPs (ALOX5 rs2115819 and ABCC1 rs119774) …
35
… The SNPs included the two (ALOX5 rs2115819 and ABCC1 rs119774) that we had previously reported to be associated with FEV1 response to montelukast. Thus, the lung function …
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… The presence of the T allele (intronic SNP, rs119774) significantly improved the response of 61 asthmatics to Montelukast (FEV 1 ) (142). This SNP has also shown an association with …
37
Identification of novel variants that contribute to response heterogeneity supports future studies of single nucleotide polymorphism discovery and include gene expression and genome-…
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The treatment response to each of the three major classes of asthma medications—β agonists, leukotriene modifiers, and inhaled corticosteroids—demonstrates substantial …
39
… Moreover, a SNP in the multidrug resistance protein 1 (MRP1; rs119774), which transports LTC4 to the extracellular space and is highly expressed on human bronchial epithelial cells, …
40
Leukotrienes (LTs) have been identified as central mediators in asthma and allergy. Pharmacological inhibition of cysteinyl‐LT activity improves asthma symptoms and …
41
… response to CysLTR inhibitors,12, 13 and a more recent study had discovered a better response to montelukast in patients bearing the less frequent genotypes of the MRP1 (rs119774) …
42
Asthma is a complex inflammatory disease that affects 300 million people worldwide. Safe and effective drugs control the symptoms but heterogeneity in response is large and …
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In this chapter we will analyse the scientific and clinical rationale of using other steroid-sparing strategies in the treatment of asthma and/or chronic obstructive pulmonary disease (…
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Despite advances in treatment, asthma continues to be a significant health and economic burden. Although asthma cannot be cured, several drugs, including β2 agonists, corticosteroids…
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… Percentage change in % predicted FEV 1 over baseline after 6 mo of montelukast treatment was compared by genotypes of MRP1 marker rs119774 and of ALOX5 marker rs2115819. …
46
Asthma affects approximately 300 million individuals worldwide. Medications comprise a substantial portion of asthma expenditures. Despite the availability of three primary therapeutic …
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Is there a difference between pharmacogenomics and pharmacogenetics? Pharmacogenomics refers to the study of all of the genes that determine drug behavior, whereas …
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Asthma affects more than 300 million individuals worldwide and is the most common chronic disease in children (1). According to the GINA guidelines, inhaled corticosteroids …
Curated Studies0

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Unused Studies0

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