Analysis of common single nucleotide polymorphisms in complex regional pain syndrome: Genome wide association study approach and pooled DNA strategy

Piotr Janicki, Guillermo M. Alexander, Jill Eckert, Marek Postula, Robert J. Schwartzman

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Objective. The objective of this study was to use a genome-wide association (GWAS) approach and pooled DNA strategy to search for new genomic loci associated with complex regional pain syndrome (CRPS). Design. The study cohort consisted of 230 patients with established diagnosis of CRPS. The control group consisted of 230 age- and gender-matched subjects without chronic pain. We tested the association of common single nucleotide polymorphisms (SNPs), genotyped using a high-density microarray platform, with CRPS phenotype. This was followed by individual genotyping of the most significant SNPs identified in the microarray genomic scan, in both original discovery (N5115) and independent verification (N5115) groups of patients with CRPS, as well as in the appropriate matched control subjects. Results. The results of our study provide no support for the initial hypothesis of the existence of an association between any investigated genomic targets (including GWAS for all genomic loci available on the microarray, and focused scan of the HLA locus on chromosome 6) and CRPS phenotype. Conclusions. Despite the fact that we interrogated about 83% of all of common SNPs in the human genome, we did not find evidence that any of the investigated common SNPs may be associated with CRPS phenotype.

Original languageEnglish (US)
Pages (from-to)2344-2352
Number of pages9
JournalPain Medicine (United States)
Volume17
Issue number12
DOIs
StatePublished - Dec 1 2016

Fingerprint

Complex Regional Pain Syndromes
Genome-Wide Association Study
Single Nucleotide Polymorphism
DNA
Phenotype
Genome
Chromosomes, Human, Pair 6
Human Genome
Chronic Pain
Cohort Studies
Control Groups

All Science Journal Classification (ASJC) codes

  • Clinical Neurology
  • Anesthesiology and Pain Medicine

Cite this

@article{c9bc6f6494a64cfbab0d243b758d0822,
title = "Analysis of common single nucleotide polymorphisms in complex regional pain syndrome: Genome wide association study approach and pooled DNA strategy",
abstract = "Objective. The objective of this study was to use a genome-wide association (GWAS) approach and pooled DNA strategy to search for new genomic loci associated with complex regional pain syndrome (CRPS). Design. The study cohort consisted of 230 patients with established diagnosis of CRPS. The control group consisted of 230 age- and gender-matched subjects without chronic pain. We tested the association of common single nucleotide polymorphisms (SNPs), genotyped using a high-density microarray platform, with CRPS phenotype. This was followed by individual genotyping of the most significant SNPs identified in the microarray genomic scan, in both original discovery (N5115) and independent verification (N5115) groups of patients with CRPS, as well as in the appropriate matched control subjects. Results. The results of our study provide no support for the initial hypothesis of the existence of an association between any investigated genomic targets (including GWAS for all genomic loci available on the microarray, and focused scan of the HLA locus on chromosome 6) and CRPS phenotype. Conclusions. Despite the fact that we interrogated about 83{\%} of all of common SNPs in the human genome, we did not find evidence that any of the investigated common SNPs may be associated with CRPS phenotype.",
author = "Piotr Janicki and Alexander, {Guillermo M.} and Jill Eckert and Marek Postula and Schwartzman, {Robert J.}",
year = "2016",
month = "12",
day = "1",
doi = "10.1093/pm/pnw133",
language = "English (US)",
volume = "17",
pages = "2344--2352",
journal = "Pain Medicine",
issn = "1526-2375",
publisher = "Wiley-Blackwell",
number = "12",

}

Analysis of common single nucleotide polymorphisms in complex regional pain syndrome : Genome wide association study approach and pooled DNA strategy. / Janicki, Piotr; Alexander, Guillermo M.; Eckert, Jill; Postula, Marek; Schwartzman, Robert J.

In: Pain Medicine (United States), Vol. 17, No. 12, 01.12.2016, p. 2344-2352.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Analysis of common single nucleotide polymorphisms in complex regional pain syndrome

T2 - Genome wide association study approach and pooled DNA strategy

AU - Janicki, Piotr

AU - Alexander, Guillermo M.

AU - Eckert, Jill

AU - Postula, Marek

AU - Schwartzman, Robert J.

PY - 2016/12/1

Y1 - 2016/12/1

N2 - Objective. The objective of this study was to use a genome-wide association (GWAS) approach and pooled DNA strategy to search for new genomic loci associated with complex regional pain syndrome (CRPS). Design. The study cohort consisted of 230 patients with established diagnosis of CRPS. The control group consisted of 230 age- and gender-matched subjects without chronic pain. We tested the association of common single nucleotide polymorphisms (SNPs), genotyped using a high-density microarray platform, with CRPS phenotype. This was followed by individual genotyping of the most significant SNPs identified in the microarray genomic scan, in both original discovery (N5115) and independent verification (N5115) groups of patients with CRPS, as well as in the appropriate matched control subjects. Results. The results of our study provide no support for the initial hypothesis of the existence of an association between any investigated genomic targets (including GWAS for all genomic loci available on the microarray, and focused scan of the HLA locus on chromosome 6) and CRPS phenotype. Conclusions. Despite the fact that we interrogated about 83% of all of common SNPs in the human genome, we did not find evidence that any of the investigated common SNPs may be associated with CRPS phenotype.

AB - Objective. The objective of this study was to use a genome-wide association (GWAS) approach and pooled DNA strategy to search for new genomic loci associated with complex regional pain syndrome (CRPS). Design. The study cohort consisted of 230 patients with established diagnosis of CRPS. The control group consisted of 230 age- and gender-matched subjects without chronic pain. We tested the association of common single nucleotide polymorphisms (SNPs), genotyped using a high-density microarray platform, with CRPS phenotype. This was followed by individual genotyping of the most significant SNPs identified in the microarray genomic scan, in both original discovery (N5115) and independent verification (N5115) groups of patients with CRPS, as well as in the appropriate matched control subjects. Results. The results of our study provide no support for the initial hypothesis of the existence of an association between any investigated genomic targets (including GWAS for all genomic loci available on the microarray, and focused scan of the HLA locus on chromosome 6) and CRPS phenotype. Conclusions. Despite the fact that we interrogated about 83% of all of common SNPs in the human genome, we did not find evidence that any of the investigated common SNPs may be associated with CRPS phenotype.

UR - http://www.scopus.com/inward/record.url?scp=85030265162&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85030265162&partnerID=8YFLogxK

U2 - 10.1093/pm/pnw133

DO - 10.1093/pm/pnw133

M3 - Article

C2 - 28025368

AN - SCOPUS:85030265162

VL - 17

SP - 2344

EP - 2352

JO - Pain Medicine

JF - Pain Medicine

SN - 1526-2375

IS - 12

ER -