Genetics Research
rs2062541
Gene: ABCC1 — ATP Binding Cassette Subfamily C Member 1 (ABCC1 Blood Group)
Chr 16:16033378
16p13.11
Intron Variant
Population Frequencies12
African
G 0.5298A 0.4702GG 0.280245GA/AG 0.499115AA 0.22064pop=24,864
African American
G 0.52868A 0.47132GG 0.279052GA/AG 0.499252AA 0.221696pop=24,060
African Others
G 0.563A 0.437GG 0.31592GA/AG 0.495025AA 0.189055pop=804
Asian
G 0.6109A 0.3891GG 0.373005GA/AG 0.475842AA 0.151152pop=9,024
East Asian
G 0.622A 0.378GG 0.387535GA/AG 0.468975AA 0.14349pop=7,220
European
G 0.39283A 0.60717GG 0.155521GA/AG 0.474617AA 0.369862pop=246,346
Latin American 1
G 0.4321A 0.5679GG 0.170213GA/AG 0.523679AA 0.306108pop=2,914
Latin American 2
G 0.4658A 0.5342GG 0.222425GA/AG 0.486821AA 0.290754pop=9,864
Other
G 0.455A 0.545GG 0.208922GA/AG 0.492193AA 0.298885pop=5,380
Other Asian
G 0.5665A 0.4335GG 0.314856GA/AG 0.503326AA 0.181818pop=1,804
South Asian
G 0.5456A 0.4544GG 0.305354GA/AG 0.480502AA 0.214144pop=6,052
Studies9
Unread Studies9 ▼
1
Background/Objectives: Internalizing disorders, including depression and anxiety, are major contributors to the global burden of disease. While the genetic architecture of these disorders in adults has been extensively studied, their early-life genetic mechanisms remain underexplored, especially in non-European populations. This study investigated the genetic mechanisms underlying internalizing symptoms in a cohort of Latin American children. Methods: This study included 1244 Brazilian children whose legal guardians completed the Child Behavior Checklist (CBCL) questionnaire. Genotyping was performed using the Illumina HumanOmni 2.5-8v1 BeadChip. Results: The genome-wide association analysis revealed a significant association of rs7196970 (p = 4.5 × 10−8, OR = 0.61), in the ABCC1 gene, with internalizing symptoms. Functional annotation highlighted variants in epigenetically active regulatory regions, with multiple variants linked to differential expression of ABCC1 across several human tissues. Pathway enrichment analysis identified 42 significant pathways, with notable involvement in neurobiological processes such as glutamatergic, GABAergic, and dopaminergic synapses. Conclusions: This study identifies ABCC1 variants as novel genetic factors potentially associated with early-life internalizing symptoms. These results may contribute to future research on targeted interventions for childhood internalizing conditions.
2
The ATP‐binding cassette (ABC) transporter superfamily comprises membrane proteins that efflux various substrates across extra‐ and intracellular membranes. Mutations in ABC …
3
To summarize the latest information on the relationship between genes and common forms of obesity, and to review genetic markers (SNPs and miRNA) that play a role in …
4
Ис сле до ва ние од но нук ле о тид ных по ли мор физ мов ге нов ABC-транс п Page 1 Ис сле до ва ние од но нук ле о тид ных по ли мор физ мов ге нов ABC-транс пор те ров в …
5
На Ши Пре Ды Ду Щие Ис Сле До Ва Ния По Ка За Ли, Что Из Ме Не Ние Эк С П Рес Сии Ге Нов Abc-Транс Пор Те Ров (Abcb1, Abcb3, Abcc1, Abcc2, Abcc5, Abcg1, Abcg2) Свя За …
6
Our previous research establishes that changes of expression of the ATP-binding cassette genes family ( ABCB1 , ABCB3 , ABCC1 , ABCC2 , ABCC5 , ABCG1 , ABCG2 ) is connected with the neoadjuvant chemotherapy effect. However, the mechanism of regulation of resistance gene expression remains unclear. As many researchers believe, single nucleotide polymorphisms can be involved in this process. Materials and methods. Thereupon, microarray analysis is used to study polymorphisms in ATP-binding cassette genes. The study group 84 patients with breast cancer. The test material as tumor biopsy samples were used to treat and operation after chemotherapy. The evaluation of genes expression was performed by real time PCR. Results. Total 195 single nucleotide polymorphisms 7 gene family of ABC-transporters have been analyzed. It is thus found that MDR gene expression is connected with 8 polymorphisms, i.e. ABCB1 rs2235035 , ABCB3 rs241430 , ABCB3 rs241429 , ABCC1 rs17205838 , ABCC1 rs35596 , ABCC2 rs4919395 , ABCC2 rs2756103 and ABCG2 rs59409230 which participate in the regulation of expression of own genes. Conclusions. Therefore, this work shows that the majority of mutations and polymorphisms of ABC genes have a substantial impact on the ATP-binding cassette transporter regulation, it can give more information about the mechanisms of ABC regulation of gene expression and the formation of chemoresistance.
7
Replicability is a fundamental quality of scientific discoveries: we are interested in those signals that are detectable in different laboratories, study populations, across time etc. Testing a …
8
Our previous research establishes that changes of expression of the ATP-binding cassette genes family is connected with the neoadjuvant chemotherapy effect. However, the mechanism of regulation of resistance gene expression remains unclear. As many researchers believe, single nucleotide polymorphisms can be involved in this process. Thereupon, microarray analysis is used to study polymorphisms in ATP-binding cassette genes. It is thus found that MDR gene expression is connected with 5 polymorphisms, ie …
9
Рак молочной железы (РМЖ) в течение последних десятилетий является самым распространенным онкологическим заболеванием среди женщин практически всех стран …
Curated Studies0 ▼
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Unused Studies0 ▼
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