Genetics Research
rs924135
Gene: ABCC1 — ATP Binding Cassette Subfamily C Member 1 (ABCC1 Blood Group)
Chr 16:16029602
16p13.11
Intron Variant
Population Frequencies12
African
A 0.649T 0.351AA 0.470485AT/TA 0.357101TT 0.172414pop=3,422
African American
A 0.6465T 0.3535AA 0.468331AT/TA 0.356273TT 0.175396pop=3,284
African Others
A 0.71T 0.29AA 0.521739AT/TA 0.376812TT 0.101449pop=138
Asian
A 0.95T 0.05AA 0.909091AT/TA 0.090909TT 0pop=44
East Asian
A 0.97T 0.03AA 0.944444AT/TA 0.055556TT 0pop=36
European
A 0.5143T 0.4857AA 0.323218AT/TA 0.382263TT 0.294519pop=8,502
Latin American 1
A 0.54T 0.46AA 0.244898AT/TA 0.591837TT 0.163265pop=98
Latin American 2
A 0.726T 0.274AA 0.566265AT/TA 0.319277TT 0.114458pop=332
Other
A 0.628T 0.372AA 0.473404AT/TA 0.308511TT 0.218085pop=376
Other Asian
A 0.9T 0.1AA 0.75AT/TA 0.25TT 0pop=8
South Asian
A 0.93T 0.07AA 0.866667AT/TA 0.133333TT 0pop=30
Studies5
Unread Studies5 ▼
1
The MR analysis suggested that genetically predicted elevated levels of octanoylcarnitine and decanoylcarnitine were associated with increased risk of BC. Functional …
2
We identified and replicated metabolites associated with SCT, many of which are related to eGFR and/or pathways altered in SCD (e.g., oxidative stress, membrane remodeling). These results suggest that plasma metabolomic profiling may be useful in ESKD risk stratification for individuals with SCT, meriting validation in larger cohorts.
3
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.
4
Brain glucose hypometabolism is among the earliest pathogenic changes in Alzheimer’s disease (AD). This metabolic dysfunction points to the personal bioenergetic capacity, defined as the ability to maintain energy homeostasis under all circumstances including deregulated glucose uptake, as a potential source of resilience to the disease. Fasting blood acylcarnitine profiles are a central readout for this capacity in the absence of dietary glucose and capture the activity and efficiency of glucose‐independent routes of mitochondrial energy metabolism.
5
An emerging focus of cancer epidemiology is the role of the environment together with genes in determining risk, often referred to as gene-environment interaction. For non-Hodgkin lymphoma (NHL), environmental exposures such as organochlorines are important risk factors. On the other hand, familial clustering of NHL suggests that genetics also plays a role. In this project, we analyze data from a BC population-based case-control study of NHL, to evaluate gene-environment interactions between the organochlorine oxychlordane and single-nucleotide polymorphisms (SNPs) that tag genes involved in the elimination of foreign compounds from the body. A statistically significant interaction between oxychlordane and an intronic SNP within the ABCC4 gene was identified at false-discovery rate level 10%. The same intronic region of ABCC4 produced the four most significant interactions. These results may be viewed in the context of recent work connecting intronic SNPs to regulation of gene expression and the development of cancer.
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 ▼
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