rs10918196 (LRRC52-AS1): Lentiform Nucleus Volume
Key takeaways
- rs10918196 sits in the LRRC52-AS1 region and was identified in a brain-imaging genome-wide study of lentiform nucleus volume, a basal-ganglia structure tied to movement and reward
- The lentiform nucleus is implicated in Parkinson's disease, Huntington's disease, schizophrenia, ADHD, and bipolar disorder
- The ALT allele of this variant is linked to increased RXRG gene expression in both testis and pituitary gland
- Brain-structure association evidence comes from a meta-analysis of 1,345 individuals; variant-specific statistics are not available in the current source text
- No lifestyle or drug-response data are on file for this variant
Key takeaways
- rs10918196 is in the LRRC52-AS1 (Leucine Rich Repeat Containing 52 Antisense RNA 1) region and was identified in a genome-wide association study of lentiform nucleus volume, a basal-ganglia structure involved in movement coordination and reward
- The lentiform nucleus is implicated in Parkinson's disease, Huntington's disease, schizophrenia, ADHD, and bipolar disorder
- In tissue-expression data from GTEx (953 donors), the ALT allele of this variant is linked to increased RXRG gene expression in both testis and pituitary gland
- The brain-structure evidence comes from a meta-analysis of 1,345 individuals across two cohorts; variant-specific effect sizes for rs10918196 are not available in the current source text
- No lifestyle or drug-response data are on file for this variant
What the research says
A genome-wide association study (GWAS) combining data from the Alzheimer's Disease Neuroimaging Initiative (ADNI, N=706, elderly adults) and the Queensland Twin Imaging Study (QTIM, N=639, young adults) used a fixed-effects meta-analysis - a statistical method that pools results across independent cohorts to increase detection power - to identify genetic variants associated with lentiform nucleus volume (combined N=1,345); the lentiform nucleus is a bilateral structure in the basal ganglia involved in movement and reward, is implicated in Parkinson's disease, Huntington's disease, schizophrenia, ADHD, and bipolar disorder, and this locus was among the associations the study identified. Separately, tissue-specific expression-quantitative trait locus (eQTL) analysis from GTEx (953 donors, false discovery rate below 5%) shows that the ALT allele of rs10918196 increases RXRG gene expression in testis (effect +0.25 log2 units, p=1.4e-8) and pituitary gland (effect +0.16 log2 units, p=2.5e-5) GTEx Portal.
Reported associations
- Lentiform nucleus volume: Identified as an association in a GWAS combining ADNI (N=706, elderly) and QTIM (N=639, young adults) cohorts (combined N=1,345); variant-specific statistics for rs10918196 are not reported in the available source text
- RXRG expression in testis: The ALT allele is associated with increased RXRG expression (effect +0.25 log2 units, p=1.4e-8, n=953 donors) GTEx Portal
- RXRG expression in pituitary: The ALT allele is associated with increased RXRG expression (effect +0.16 log2 units, p=2.5e-5, n=953 donors) GTEx Portal
Evidence quality
The brain-structure association comes from a single published meta-analysis of two independent cohorts (ADNI and QTIM, combined N=1,345) spanning both elderly and young-adult populations, a cross-age design that strengthens generalizability; however, the study's primary genome-wide significant result (p=4.79e-8) was for a different variant, rs1795240 in the FMO3 gene, which explained 2.68% of lentiform nucleus volume variance in the elderly cohort and 0.84% in the young-adult cohort. The p-value and effect size specific to rs10918196 are not available in the provided source text, and no independent replication of this specific association is documented in the available material; the brain-structure link should therefore be treated as preliminary. The GTEx eQTL associations for RXRG in testis (p=1.4e-8) and pituitary (p=2.5e-5) are derived from a 953-donor reference dataset and pass a stringent false discovery rate threshold, making this the more directly quantified line of evidence currently available for this locus GTEx Portal.
Tissue-specific expression effects
- RXRG: The ALT allele is associated with increased expression in testis (slope +0.25 log2 units, p=1.4e-8) and pituitary gland (slope +0.16 log2 units, p=2.5e-5), both passing FDR below 5% in a 953-donor GTEx dataset; the effect is stronger in testis than in pituitary GTEx Portal
Lifestyle considerations
No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs10918196?
rs10918196 is a genetic variant in the LRRC52-AS1 gene region. It has been identified in a genome-wide study of lentiform nucleus volume, a brain structure in the basal ganglia involved in movement and reward, and it also shows effects on RXRG gene expression in testis and pituitary tissue.
What is the lentiform nucleus and why does it matter genetically?
The lentiform nucleus is a bilateral structure deep in the brain, part of the basal ganglia, involved in initiating and terminating movements and in the brain's reward circuitry. Differences in its volume have been linked to Parkinson's disease, Huntington's disease, schizophrenia, ADHD, and bipolar disorder, making it a target of interest for genetic research.
What does the GTEx data show for rs10918196?
GTEx expression data show that the ALT allele of rs10918196 is associated with increased expression of the RXRG gene in both testis and pituitary gland, based on a 953-donor reference dataset. These are gene-expression effects and do not directly indicate disease risk or clinical outcomes.
Is rs10918196 linked to Parkinson's disease?
The study that identified rs10918196 examined lentiform nucleus volume, a brain region implicated in Parkinson's disease, but did not directly test for an association with Parkinson's disease itself. No direct evidence linking this variant to Parkinson's disease risk is present in the current source material.
What is LRRC52-AS1?
LRRC52-AS1 stands for Leucine Rich Repeat Containing 52 Antisense RNA 1. It is the gene region where rs10918196 is located, and this variant has been studied in the context of brain structure and tissue-specific gene expression regulation.