Expressive

rs1107321 (EMP1/LINC01559): Tobacco and Alcohol Use

Key takeaways

  • rs1107321, near EMP1 and LINC01559, was identified in one of the largest genetic studies of tobacco and alcohol use behaviors ever conducted.
  • The study covered approximately 3.4 million people across diverse global ancestries, identifying more than 3,800 independent genetic variants.
  • Most variants found in the study had consistent effects across different ancestry groups, suggesting broad population relevance.
  • Polygenic scores built using data from one ancestry group performed poorly in others, a key limitation of current genetic prediction research.
  • The specific strength of this variant's association with tobacco or alcohol use was not reported in the available evidence.

Key takeaways

  • rs1107321, near EMP1 and LINC01559, was identified in one of the largest genetic studies of tobacco and alcohol use behaviors ever conducted.
  • The study covered approximately 3.4 million people across diverse global ancestries, identifying more than 3,800 independent genetic variants.
  • Most variants found in the study had consistent effects across different ancestry groups, suggesting broad population relevance.
  • Polygenic scores built using data from one ancestry group performed poorly in others, a key limitation of current genetic prediction research.
  • The specific strength of this variant's association with tobacco or alcohol use was not reported in the available evidence.

What the research says rs1107321 lies near two genes: EMP1 (Epithelial Membrane Protein 1) and LINC01559 (a long intergenic non-coding RNA, meaning a class of gene that does not produce a protein). It was among 3,823 independently associated variants identified across 2,143 loci in a multi-ancestry meta-analysis of tobacco and alcohol use behaviors, involving approximately 3.4 million individuals from 60 cohorts. The study examined five behavioral phenotypes: smoking initiation (ever vs. never regular smoker, n = 3,383,199), age at onset of regular smoking (n = 728,826), cigarettes per day among current and former smokers (n = 784,353), smoking cessation (current vs. former smoker, n = 1,400,535), and drinks per week (n = 2,965,643). A large majority of the 3,823 associated variants showed consistent effect sizes across four major ancestry groups: African (maximum n = 119,589), American admixed (n = 286,026), East Asian (n = 296,438), and European (n = 2,669,029).

Reported associations

  • Tobacco and/or alcohol use behaviors: rs1107321 at the EMP1 - LINC01559 locus was identified in a GWAS (genome-wide association study, a method that scans the entire genome to find variants statistically linked to a trait) examining five tobacco and alcohol phenotypes across approximately 3.4 million individuals; the specific phenotype or phenotypes this variant is most strongly associated with are not detailed in the available study text.

Evidence quality The study providing evidence for this locus involved approximately 3.4 million individuals from 60 cohorts and is among the largest GWAS of tobacco and alcohol use behaviors conducted to date. A stringent significance threshold (P < 5 x 10^-9) was applied to sentinel variants, and 99.3% of sentinel variants met a high posterior probability of replication threshold, indicating that identified associations are likely to replicate in future adequately powered studies. Most variants showed consistent effect sizes across four major ancestry groups. However, the specific effect size, phenotype assignment, confidence intervals, and individual replication status for rs1107321 are not detailed in the available study text, which limits precise evaluation of this particular variant's evidence quality.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs1107321?

rs1107321 is a genetic variant (a single nucleotide polymorphism, or SNP) located near the EMP1 and LINC01559 genes. It was identified in a large genome-wide study examining genetic influences on tobacco and alcohol use behaviors across approximately 3.4 million people.

What are the EMP1 and LINC01559 genes?

EMP1 stands for Epithelial Membrane Protein 1. LINC01559 is a long intergenic non-coding RNA gene, meaning it does not produce a protein. Neither gene's specific biological role in relation to tobacco or alcohol use is described in the available study text.

Is rs1107321 linked to smoking or drinking?

This variant was identified in a GWAS examining five tobacco and alcohol phenotypes, including smoking initiation, cigarettes per day, and drinks per week, across 3.4 million people. The specific phenotype it is most strongly associated with is not detailed in the available study text.

How strong is the evidence for this variant?

The study that identified this locus used a stringent significance threshold (P < 5 x 10^-9) and involved 3.4 million participants across diverse global ancestries, with 99.3% of sentinel variants meeting a high replication confidence threshold. However, specific effect sizes and phenotype assignments for rs1107321 individually are not available from the current evidence base.

Do these findings apply equally to people from different ethnic backgrounds?

The study found that most identified variants showed consistent effect sizes across African, American admixed, East Asian, and European ancestry groups. However, polygenic risk scores built from one ancestry group performed poorly when applied to others, indicating that genetic prediction tools need further development for diverse populations.