title: Genetic Association for P2X7R rs3751142 and CARD8 rs2043211 Polymorphisms for Susceptibility of Gout in Korean Men: Multi-Center Study.
abstract: The aim of this study was to determine the association between P2X7R rs3751142 and CARD8 rs2043211 polymorphisms and gout susceptibility in male Korean subjects. This study enrolled a total of 242 male patients with gout and 280 healthy controls. The polymorphisms of two individual genes including rs3751142(C>A) in the P2X7R gene and rs2043211(A>T) in the CARD8 gene were assessed using Taq-Man analysis. Statistical analyses were performed using the Chi-square test, Kruskal-Wallis test, and logistic regression analyses. A difference in genotypic frequency of the P2X7R rs3751142 and CARD8 rs2043211 genes was not detected between gout and control patients. Clinical parameters including age, onset age, disease duration, body mass index, and serum uric acid levels were not different among the three genotypes for either P2X7R or CARD8 (P > 0.05 for all). A pair-wise comparison of P2X7R rs3751142 and CARD8 rs2043211 genotype combinations revealed that subjects with the CA P2X7R rs3751142 genotype and the TT CARD8 rs2043211 genotype had a trend toward a higher risk of gout compared to the CC/AA combination (P = 0.056, OR = 2.618, 95% CI 0.975 - 7.031). In conclusion, this study revealed that genetic variability of the P2X7R rs3751142 and CARD8 rs2043211 genes might, in part, be associated with susceptibility for gout.
authors.affiliation: Division of Rheumatology, Department of Internal Medicine, Dong-A University College of Medicine, Busan, Korea.
authors.forename: Sung Won
authors.identifier: http://orcid.org/0000-0003-1213-1254
authors.initials: SW
authors.lastname: Lee
authors.affiliation: Department of Rheumatology, Chonnam National University Medical School, Gwangju, Korea.
authors.forename: Shin Seok
authors.identifier: http://orcid.org/0000-0001-6810-7355
authors.initials: SS
authors.lastname: Lee
authors.affiliation: Department of Internal Medicine, Pohang Saint Mary's Hospital, Pohang, Korea.
authors.forename: Dong Ho
authors.identifier: http://orcid.org/0000-0003-3611-052X
authors.initials: DH
authors.lastname: Oh
authors.affiliation: Department of Rheumatology, Chonnam National University Medical School, Gwangju, Korea.
authors.forename: Dong Jin
authors.identifier: http://orcid.org/0000-0002-8709-987X
authors.initials: DJ
authors.lastname: Park
authors.affiliation: Division of Rheumatology, Department of Internal Medicine, Soonchunhyang University Seoul Hospital, Soonchunhyang University College of Medicine, Seoul, Korea.
authors.forename: Hyun Sook
authors.identifier: http://orcid.org/0000-0001-9213-7140
authors.initials: HS
authors.lastname: Kim
authors.affiliation: Department of Internal Medicine, Pohang Saint Mary's Hospital, Pohang, Korea.
authors.forename: Jung Ran
authors.identifier: http://orcid.org/0000-0001-6710-9201
authors.initials: JR
authors.lastname: Choi
authors.affiliation: Department of Pathology, School of Medicine, Wonkwang University, Iksan, Korea.
authors.forename: Soo Cheon
authors.identifier: http://orcid.org/0000-0002-5427-714X
authors.initials: SC
authors.lastname: Chae
authors.affiliation: Department of Pathology, School of Medicine, Wonkwang University, Iksan, Korea.
authors.forename: Ki Jung
authors.identifier: http://orcid.org/0000-0001-9830-0797
authors.initials: KJ
authors.lastname: Yun
authors.affiliation: Division of Rheumatology, Department of Internal Medicine, Dong-A University College of Medicine, Busan, Korea.
authors.forename: Won Tae
authors.identifier: http://orcid.org/0000-0002-1585-1022
authors.initials: WT
authors.lastname: Chung
authors.affiliation: Division of Rheumatology, Department of Internal Medicine, Arthritis and Autoimmunity Research Center, Catholic University of Daegu School of Medicine, Daegu, Korea.
authors.forename: Jung Yoon
authors.identifier: http://orcid.org/0000-0003-0957-0395
authors.initials: JY
authors.lastname: Choe
authors.affiliation: Division of Rheumatology, Department of Internal Medicine, Arthritis and Autoimmunity Research Center, Catholic University of Daegu School of Medicine, Daegu, Korea. kimsk714@cu.ac.kr.
authors.forename: Seong Kyu
authors.identifier: http://orcid.org/0000-0002-7780-0167
authors.initials: SK
authors.lastname: Kim
mesh_terms: D000328:Adult; D017668:Age of Onset; D044466:Asian People / Q000235:genetics*; D015992:Body Mass Index; D053468:CARD Signaling Adaptor Proteins / Q000235:genetics*; D016022:Case-Control Studies; D004198:Disease Susceptibility; D005787:Gene Frequency; D005838:Genotype; D006073:Gout / Q000235:genetics* / Q000473:pathology; D006801:Humans; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics*; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D058486:Receptors, Purinergic P2X7 / Q000235:genetics*; D056910:Republic of Korea; D012307:Risk Factors; D014527:Uric Acid / Q000097:blood
chemical_list: D053468:CARD Signaling Adaptor Proteins; C455623:CARD8 protein, human; D009363:Neoplasm Proteins; C546468:P2RX7 protein, human; D058486:Receptors, Purinergic P2X7; D014527:Uric Acid
keywords: CARD8; Gout; Inflammasome; P2X7R; Polymorphism