Pathway analysis of genome-wide association studies on uric acid concentrations

Research output: Contribution to journalArticle

28 Citations (Scopus)

Abstract

Objective: The aims of this study were to identify the candidate causal single nucleotide polymorphisms (SNPs) and candidate causal mechanisms influencing uric acid level and to generate hypotheses for the SNP to gene to pathways that influence uric acid concentrations. Methods: Meta-analysis data of 954 SNPs with genome-wide significance in 14 genome-wide association studies (GWASs) comprising 28,141 individuals of European ancestry was subjected to ICSNPathway (Identify candidate Causal SNPs and Pathways) analysis to establish associations between pathways and uric acid concentrations. Results: ICSNPathway analysis identified 14 candidate causal SNPs, five genes, and two candidate causal pathways, which provided two hypothetical biologic mechanisms: (1) rs2728121 (regulatory region) to polycystic kidney disease 2 (PKD2) to ion transmembrane transporter activity; (2) rs942377, rs3799346, rs3799344, rs2762353, rs13197601, rs3757131, rs1165215, rs1165196 to SLC17A1 to ion transmembrane transporter activity and secondary active transmembrane transporter activity. SLC17A1, SLC17A3, SLC17A4, SLC22A11, and SLC2A9 were involved in both pathways, and PKD2 and SLC16A9 in one pathway. Conclusion: By applying ICSNPathway analysis to GWAS data on uric acid levels, 14 SNPs, five genes, and two pathways involving the PKD2, SLC17A1, SLC17A3, SLC17A4, and SLC2A9 genes were identified that might contribute to the condition in Europeans.

Original languageEnglish
Pages (from-to)805-810
Number of pages6
JournalHuman Immunology
Volume73
Issue number8
DOIs
Publication statusPublished - 2012 Aug 1

Fingerprint

Genome-Wide Association Study
Uric Acid
Single Nucleotide Polymorphism
Autosomal Dominant Polycystic Kidney
Genes
Ions
Nucleic Acid Regulatory Sequences
Meta-Analysis
Genome

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

Cite this

Pathway analysis of genome-wide association studies on uric acid concentrations. / Lee, Young Ho; Song, Gwan Gyu.

In: Human Immunology, Vol. 73, No. 8, 01.08.2012, p. 805-810.

Research output: Contribution to journalArticle

@article{a6d25de6a8ef4764a8df252c40953008,
title = "Pathway analysis of genome-wide association studies on uric acid concentrations",
abstract = "Objective: The aims of this study were to identify the candidate causal single nucleotide polymorphisms (SNPs) and candidate causal mechanisms influencing uric acid level and to generate hypotheses for the SNP to gene to pathways that influence uric acid concentrations. Methods: Meta-analysis data of 954 SNPs with genome-wide significance in 14 genome-wide association studies (GWASs) comprising 28,141 individuals of European ancestry was subjected to ICSNPathway (Identify candidate Causal SNPs and Pathways) analysis to establish associations between pathways and uric acid concentrations. Results: ICSNPathway analysis identified 14 candidate causal SNPs, five genes, and two candidate causal pathways, which provided two hypothetical biologic mechanisms: (1) rs2728121 (regulatory region) to polycystic kidney disease 2 (PKD2) to ion transmembrane transporter activity; (2) rs942377, rs3799346, rs3799344, rs2762353, rs13197601, rs3757131, rs1165215, rs1165196 to SLC17A1 to ion transmembrane transporter activity and secondary active transmembrane transporter activity. SLC17A1, SLC17A3, SLC17A4, SLC22A11, and SLC2A9 were involved in both pathways, and PKD2 and SLC16A9 in one pathway. Conclusion: By applying ICSNPathway analysis to GWAS data on uric acid levels, 14 SNPs, five genes, and two pathways involving the PKD2, SLC17A1, SLC17A3, SLC17A4, and SLC2A9 genes were identified that might contribute to the condition in Europeans.",
author = "Lee, {Young Ho} and Song, {Gwan Gyu}",
year = "2012",
month = "8",
day = "1",
doi = "10.1016/j.humimm.2012.05.004",
language = "English",
volume = "73",
pages = "805--810",
journal = "Human Immunology",
issn = "0198-8859",
publisher = "Elsevier Inc.",
number = "8",

}

TY - JOUR

T1 - Pathway analysis of genome-wide association studies on uric acid concentrations

AU - Lee, Young Ho

AU - Song, Gwan Gyu

PY - 2012/8/1

Y1 - 2012/8/1

N2 - Objective: The aims of this study were to identify the candidate causal single nucleotide polymorphisms (SNPs) and candidate causal mechanisms influencing uric acid level and to generate hypotheses for the SNP to gene to pathways that influence uric acid concentrations. Methods: Meta-analysis data of 954 SNPs with genome-wide significance in 14 genome-wide association studies (GWASs) comprising 28,141 individuals of European ancestry was subjected to ICSNPathway (Identify candidate Causal SNPs and Pathways) analysis to establish associations between pathways and uric acid concentrations. Results: ICSNPathway analysis identified 14 candidate causal SNPs, five genes, and two candidate causal pathways, which provided two hypothetical biologic mechanisms: (1) rs2728121 (regulatory region) to polycystic kidney disease 2 (PKD2) to ion transmembrane transporter activity; (2) rs942377, rs3799346, rs3799344, rs2762353, rs13197601, rs3757131, rs1165215, rs1165196 to SLC17A1 to ion transmembrane transporter activity and secondary active transmembrane transporter activity. SLC17A1, SLC17A3, SLC17A4, SLC22A11, and SLC2A9 were involved in both pathways, and PKD2 and SLC16A9 in one pathway. Conclusion: By applying ICSNPathway analysis to GWAS data on uric acid levels, 14 SNPs, five genes, and two pathways involving the PKD2, SLC17A1, SLC17A3, SLC17A4, and SLC2A9 genes were identified that might contribute to the condition in Europeans.

AB - Objective: The aims of this study were to identify the candidate causal single nucleotide polymorphisms (SNPs) and candidate causal mechanisms influencing uric acid level and to generate hypotheses for the SNP to gene to pathways that influence uric acid concentrations. Methods: Meta-analysis data of 954 SNPs with genome-wide significance in 14 genome-wide association studies (GWASs) comprising 28,141 individuals of European ancestry was subjected to ICSNPathway (Identify candidate Causal SNPs and Pathways) analysis to establish associations between pathways and uric acid concentrations. Results: ICSNPathway analysis identified 14 candidate causal SNPs, five genes, and two candidate causal pathways, which provided two hypothetical biologic mechanisms: (1) rs2728121 (regulatory region) to polycystic kidney disease 2 (PKD2) to ion transmembrane transporter activity; (2) rs942377, rs3799346, rs3799344, rs2762353, rs13197601, rs3757131, rs1165215, rs1165196 to SLC17A1 to ion transmembrane transporter activity and secondary active transmembrane transporter activity. SLC17A1, SLC17A3, SLC17A4, SLC22A11, and SLC2A9 were involved in both pathways, and PKD2 and SLC16A9 in one pathway. Conclusion: By applying ICSNPathway analysis to GWAS data on uric acid levels, 14 SNPs, five genes, and two pathways involving the PKD2, SLC17A1, SLC17A3, SLC17A4, and SLC2A9 genes were identified that might contribute to the condition in Europeans.

UR - http://www.scopus.com/inward/record.url?scp=84864028263&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84864028263&partnerID=8YFLogxK

U2 - 10.1016/j.humimm.2012.05.004

DO - 10.1016/j.humimm.2012.05.004

M3 - Article

C2 - 22609445

AN - SCOPUS:84864028263

VL - 73

SP - 805

EP - 810

JO - Human Immunology

JF - Human Immunology

SN - 0198-8859

IS - 8

ER -