Cited by 176Genetic Associations and EpidemiologyBioinformatics and Genomic NetworksGenetic Mapping and Diversity in Plants and Animals

How far from the SNP may the causative genes be?

Open access
Brodie, Aharon, Azaria, Johnathan Roy, Ofran, Yanay·2016·Nucleic Acids Research

Abstract

While GWAS identify many disease-associated SNPs, using them to decipher disease mechanisms is hindered by the difficulty in mapping SNPs to genes. Most SNPs are in non-coding regions and it is often hard to identify the genes they implicate. To explore how far the SNP may be from the affected genes we used a pathway-based approach. We found that affected genes are often up to 2 Mbps away from the associated SNP, and are not necessarily the closest genes to the SNP. Existing approaches for mapping SNPs to genes leave many SNPs unmapped to genes and reveal only 86 significant phenotype-pathway associations for all known GWAS hits combined. Using the pathway-based approach we propose here allows mapping of virtually all SNPs to genes and reveals 435 statistically significant phenotype-pathway associations. In search for mechanisms that may explain the relationships between SNPs and distant genes, we found that SNPs that are mapped to distant genes have significantly more large insertions/deletions around them than other SNPs, suggesting that these SNPs may sometimes be markers for large insertions/deletions that may affect large genomic regions.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1093/nar/gkw500

Cites

43 of 43 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • Simply assigning a GWAS-identified SNP to the nearest gene in linear genomic space may lead to false associations.

    “There has been a growing appreciation in recent years that simply assigning a GWAS-identified SNP to the nearest gene in linear genomic space may lead to false associations [174].”

    From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [174]

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Authors
Brodie, A., Azaria, J. R., & Ofran, Y.
Affiliations
Bar-Ilan University (IL)
Corresponding author
Ofran, Yanay
Venue
Nucleic Acids Research
Published
2016-06-06
Volume
44
Issue
13
Pages
6046-6054
ISSN
  • 0305-1048 (ISSN-L)
  • 1362-4962
OpenAlex
W2411890015
Cited by
172
References
43
Citations by year
2026: 14 · 2025: 14 · 2024: 10 · 2023: 18 · 2022: 26 · 2021: 25 · 2020: 21 · 2019: 23 · 2018: 15 · 2017: 5 · 2016: 1
FWCI
11.85
Type
journal article
Language
en
Open access
Locations
  • Nucleic Acids Research (publishedVersion, cc-by-nc)
  • PubMed Central (publishedVersion, cc-by-nc)
  • PubMed (publishedVersion)
  • HighWire Press Open Archive (submittedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bioinformatics and Genomic Networks
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
Keywords
single nucleotide polymorphisms, disease-associated SNPs, non-coding SNPs, indels, structural variants, disease mechanisms, genetic distance
MeSH terms
Genotype, Humans, Phenotype, Linkage Disequilibrium, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, INDEL Mutation, Genome-Wide Association Study, Genetic Association Studies

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review