Evidence map›Paper›PMID 22488871›Full record

ArticleAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics2012

ASTN1 and alcohol dependence: family-based association analysis in multiplex alcohol dependence families.

Shirley Y Hill, Daniel E Weeks, Bobby L Jones, Nicholas Zezza, Scott Stiffler

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PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
2.1field-weighted citation impact, top 13% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Article
  8. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 1 institution in 1 country.

Shirley Y HillDepartment of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213, USA. syh50@imap.pitt.edu
Daniel E Weeks
Bobby L Jones
Nicholas Zezza
Scott Stiffler
University of Pittsburgh · US

Funding

BIOLOGICAL RISK FACTORS IN RELATIVES OF ALCOHOLIC WOMENR01AA008082 · NIAAA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI HILL, SHIRLEY · 1990 to 2014
$7.6M
COGNITIVE/PERSONALITY FACTORS IN RELATIVES OF ALCOHOLICSR01AA005909 · NIAAA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI HILL, SHIRLEY Y. · 1985 to 2006
$5.4M
Longitudinal Predictors of Alcohol Dependence in Offspring of Multiplex FamiliesR01AA018289 · NIAAA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI HILL, SHIRLEY · 2009 to 2013
$3.3M
Alcoholism Susceptibility Genes in High Density FamiliesR01AA015168 · NIAAA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI HILL, SHIRLEY · 2005 to 2009
$2.8M
MOLECULAR GENETICS ANALYSES OF MULTIPLEX FAMILIESR01AA011304 · NIAAA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI HILL, SHIRLEY Y. · 1997 to 2001
$623k
NIAAA NIH HHS R01 AA005909NIAAA NIH HHS R01 AA008082NIAAA NIH HHS R01 AA011304NIAAA NIH HHS R01 AA015168NIAAA NIH HHS R01 AA018289
6 · The paper itself

Abstract

A previous genome-wide linkage study of alcohol dependence (AD) in multiplex families found a suggestive linkage result for a region on Chromosome 1 near microsatellite markers D1S196 and D1S2878. The ASTN1 gene is in this region, a gene previously reported to be associated with substance abuse, bipolar disorder and schizophrenia. Using the same family data consisting of 330 individuals with phenotypic data and DNA, finer mapping of a 26 cM region centered on D1S196 was undertaken using SNPs with minor allele frequency (MAF) ≥ 0.15 and pair-wise linkage disequilibrium (LD) of r(2) < 0.8 using the HapMap CEU population. Significant FBAT P-values for SNPs within the ASTN1 gene were observed for four SNPs (rs465066, rs228008, rs6668092, and rs172917), the most significant, rs228008, within intron 8 had a P-value of 0.001. Using MQLS, which allows for inclusion of all families, we find three of these SNPs with MQLS P-values < 0.003. In addition, two additional neighboring SNPs (rs10798496 and rs6667588) showed significance at P = 0.002 and 0.03, respectively. Haplotype analysis was performed using the haplotype-based test function of FBAT for a block that included rs228008, rs6668092, and rs172917. This analysis found one block (GCG) over-transmitted and another (ATA) under-transmitted to affected offspring. Linkage analysis identified a region consistent with the association results. Family-based association analysis shows the ASTN1 gene significantly associated with alcohol dependence. The potential importance of the ASTN1 gene for AD risk may be related its role in glial-guided neuronal migration.

Indexed as

Genetic Association StudiesGenetic Predisposition to DiseaseAlcoholismChromosomes, Human, Pair 1FamilyFemaleGenetic LinkageGlycoproteinsHaplotypesHumansLikelihood FunctionsLinkage DisequilibriumMaleNerve Tissue ProteinsPolymorphism, Single NucleotideReceptors, Cell SurfaceASTN1 protein, humanGlycoproteinsNerve Tissue ProteinsReceptors, Cell Surface

Identifiers

PMID22488871
PMCPMC3623684
OpenAlexW2054298359

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.