Expressive

rs10211596 (GIGYF2): Brain SNORC Expression Variant

Key takeaways

  • rs10211596 is linked to increased SNORC expression in seven brain regions, including hippocampus, amygdala, and frontal cortex.
  • The strongest brain signals are in the putamen and caudate, parts of the basal ganglia involved in movement and cognition.
  • This variant was identified in a GWAS of 153,950 Korean individuals covering 36 quantitative traits.
  • Evidence comes from a single large East Asian cohort; replication in other populations is not yet documented in the available sources.

Key takeaways

  • rs10211596 is linked to increased SNORC expression across seven brain regions, including hippocampus, amygdala, and frontal cortex, based on GTEx data from 953 donors.
  • The strongest brain expression signals are in the putamen and caudate, paired structures that form part of the basal ganglia (a group of brain regions involved in movement and cognition).
  • This variant was identified in a large genome-wide study of 153,950 Korean individuals examining 36 quantitative traits.
  • Evidence comes from a single large East Asian cohort; the specific quantitative trait associated with rs10211596 is not named in the provided study text, and replication across diverse populations is not yet documented in the available sources.

What the research says rs10211596 was identified in the Korean Cancer Prevention Study-II (KCPS2) Biobank, a prospective genome-wide association study (GWAS) of 153,950 Korean participants covering 36 quantitative traits including anthropometric, metabolic, hematological, and cardiovascular measures. The KCPS2 study identified 301 previously unreported genetic loci and noted that broadening ancestry diversity in GWAS samples aids biological discovery. Tissue-specific expression data from GTEx v11 identifies rs10211596 as a cis-eQTL (a variant that influences expression of a nearby gene) for SNORC, with the alternate allele consistently associated with increased SNORC expression across multiple brain structures and sun-exposed skin GTEx Portal.

Reported associations

  • Korean cohort GWAS (36 quantitative traits): rs10211596 was identified in a GWAS of 153,950 Korean individuals; the specific trait association for this variant is not named in the provided study text.
  • SNORC brain expression (cis-eQTL): The alternate allele is linked to increased SNORC expression in the amygdala, hippocampus, putamen, caudate, nucleus accumbens, anterior cingulate cortex, and frontal cortex GTEx Portal.
  • SNORC skin expression (cis-eQTL): The alternate allele is also linked to increased SNORC expression in sun-exposed lower leg skin GTEx Portal.

Evidence quality The GWAS source is KCPS2, a large, well-powered cohort (n=153,950) that used the SAIGE linear mixed model with age, sex, 10 principal components, and SNP array as covariates to control for population stratification; genomic inflation and LD score regression intercepts were within acceptable ranges (median lambda 1.23, median LDSC intercept 1.04). GTEx eQTL evidence for SNORC is based on 953 donors using FDR-controlled cis-window association testing, with p-values spanning 1.3e-10 (amygdala) to 1.8e-26 (sun-exposed skin), indicating strong and consistent statistical support for the expression associations GTEx Portal. Because the specific KCPS2 trait association for rs10211596 is not named in the provided text, direct effect-size reporting for that association is not possible here. No conflicting findings are reported in the sources available.

Tissue-specific expression effects

  • SNORC: The alternate allele is linked to increased expression across seven brain regions -- amygdala, hippocampus, putamen, caudate, nucleus accumbens, anterior cingulate cortex, and frontal cortex -- as well as in sun-exposed lower leg skin; the strongest individual signals are in putamen basal ganglia (p=8.1e-19), caudate basal ganglia (p=3.0e-16), and skin (p=1.8e-26) GTEx Portal.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs10211596?

rs10211596 is a genetic variant located near the GIGYF2 gene. It was identified in a large Korean population study and is associated with changes in SNORC gene expression across multiple brain regions and skin.

What does rs10211596 do to brain gene expression?

GTEx data from 953 donors shows the alternate allele of rs10211596 is linked to increased SNORC expression in seven brain regions, including the hippocampus, amygdala, frontal cortex, and basal ganglia structures such as the putamen and caudate.

What is the GIGYF2 gene?

GIGYF2 is the gene nearest to the rs10211596 variant by chromosomal location. GTEx tissue expression data for this variant highlights effects on the nearby SNORC gene rather than GIGYF2 directly.

Is rs10211596 linked to any diseases or traits?

The available sources identify this variant within a Korean GWAS covering 36 quantitative traits, but the specific trait association is not named in the provided text. No disease links are explicitly described in the sources available.

What populations have been studied for rs10211596?

The available evidence comes primarily from the Korean Cancer Prevention Study-II Biobank, a cohort of 153,950 Korean individuals. Data from broader populations is not described in the sources provided.