title: Association between rs2431697 T allele on 5q33.3 and systemic lupus erythematosus: case-control study and meta-analysis.
abstract: rs2431697 is located on 5q33.3, between pituitary tumor-transforming gene 1 and miR-146a. Several studies have estimated the association between rs2431697 and systemic lupus erythematosus risk. However, the results were inconsistent. A case-control study was carried out to explore the association between rs2431697 and systemic lupus erythematosus risk in a central Chinese population. Meta-analyses combining present with previous studies were conducted to further explore the association. Our case-control study included 322 cases and 353 controls. rs2431697 T allele was associated with increased risk of systemic lupus erythematosus (odds ratios (ORs) = 1.461, 95% confidence intervals (CI) 1.091-1.957, P = 0.011). The association was stronger between T allele and the risk of anti-double-stranded DNA (dsDNA)-positive systemic lupus erythematosus (OR = 2.510, 95% CI 1.545-4.077, P < 0.001). The meta-analyses included 8648 systemic lupus erythematosus patients and 10947 controls. rs2431697 T allele had an overall OR of 1.262 (95% CI 1.205-1.323, P < 0.001) under fixed-effects model. After stratified by ethnicity, I (2) reduced from 24.3 to 0 %. T allele had an OR of 1.213 (95% CI 1.145-1.284, P < 0.001) in European descendant and 1.365 (95% CI 1.259-1.480, P < 0.001) in Asian under fixed-effects model. Data on women were also extracted, and T allele had an OR of 1.337 (95% CI 1.162-1.539, P < 0.001) under random-effects model. The pooled ORs were not influenced by each study in sensitivity analyses. There were no publication biases observed in these analyses. The results from our case-control study and the meta-analyses indicate that rs2431697 T allele significantly associates with the increased risk of systemic lupus erythematosus.
authors.affiliation: Department of Laboratory Medicine, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Jiefang Da Dao 1277#, Wuhan, 430022, China.
authors.forename: Zhao-Ming
authors.initials: ZM
authors.lastname: Tang
authors.affiliation: Department of Laboratory Medicine, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Jiefang Da Dao 1277#, Wuhan, 430022, China.
authors.forename: Ping
authors.initials: P
authors.lastname: Wang
authors.affiliation: Central Laboratory, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Pan-Pan
authors.initials: PP
authors.lastname: Chang
authors.affiliation: Department of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Tony
authors.initials: T
authors.lastname: Hasahya
authors.affiliation: Department of Laboratory Medicine, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Jiefang Da Dao 1277#, Wuhan, 430022, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Xing
authors.affiliation: Department of Rheumatology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
authors.forename: Jin-Ping
authors.initials: JP
authors.lastname: Wang
authors.affiliation: Department of Laboratory Medicine, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Jiefang Da Dao 1277#, Wuhan, 430022, China. toumin@126.com.
authors.forename: Li-Hua
authors.initials: LH
authors.lastname: Hu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002681:China; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D044465:White People; D055815:Young Adult
keywords: Autoantibody; Autoimmune disease; Genetic predisposition; Single-nucleotide polymorphism