방소영
2018-03-21T04:39:31Z
2018-03-21T04:39:31Z
2013-04
ARTHRITIS AND RHEUMATISM, 2013, 65(4), p1055 ~ 1063
0004-3591
http://onlinelibrary.wiley.com/doi/10.1002/art.37854/abstract?systemMessage=Wiley+Online+Library+is+migrating+to+a+new+platform+powered+by+Atypon%2C+the+leading+provider+of+scholarly+publishing+platforms.+The+new+Wiley+Online+Library+will+be+migrated+over+the+weekend+of+March+17+and+18.You+should+not+experience+any+issues+or+loss+of+access+during+this+time.+For+more+information%2C+please+visit+our+migration+page%3A++http%3A%2F%2Fwww.wileyactual.com%2FWOLMigration%2F
http://hdl.handle.net/20.500.11754/49972
Abstract Objective Several copy number variations (CNVs) have been found to be associated with systemic lupus erythematosus (SLE) through the target gene approach. However, genome?wide features of CNVs and their role in the risk of SLE remain unknown. The aim of this study was to identify SLE?associated CNVs in Korean women. Methods Genome?wide assessments of CNVs were performed in 382 SLE patients and 191 control subjects, using an Illumina HumanHap610 BeadChip genotyping platform. SLE?associated CNV regions that were identified by genome?wide association study (GWAS) were replicated in quantitative polymerase chain reaction (PCR) and deletion?typing PCR analyses in an independent sample set comprising 564 SLE patients and 511 control subjects. Results Of 144 common CNV regions, 3 deletion?type CNV regions in 1q25.1, 8q23.3, and 10q21.3 were found to be significantly associated with SLE by GWAS analysis. In the independent replication, the CNV regions in 1q25.1 (RABGAP1L) and 10q21.3 were successfully replicated (odds ratio [OR] 1.30, P = 0.038 and OR 1.90, P = 3.6 × 10?5, respectively), and the associations were confirmed again by deletion?typing PCR. The CNV region in the C4 gene, which showed a potential association in the discovery stage, was included in the replication analysis and was found to be significantly associated with the risk of SLE (OR 1.88, P = 0.01). Through deletion?typing PCR, the exact sizes and breakpoint sequences of the deletions were defined. Individuals with the deletions in all 3 loci (RABGAP1L, 10q21.3, and C4) had a much higher risk of SLE than did those without any deletions in the 3 loci (OR 5.52, P = 3.9 × 10?4). Conclusion These CNV regions can be useful to identify the pathogenic mechanisms of SLE, and might be used to more accurately predict the risk of SLE by taking into consideration their synergistic effects on disease susceptibility.
Supported by the Korea Healthcare Technology R&D Project (grants A092258, A040002, and A111218-11-GM01), funded by the Ministry of Health and Welfare, Republic of Korea.
en
American College of Rheumatology
article
chromosome 10q
chromosome 1q
chromosome 8q
disease predisposition
female
gene deletion
gene replication
genetic association
genetic risk
genotype
high risk patient
human
Korea
major clinical study
polymerase chain reaction
priority journal
Deletion Variants of RABGAP1L, 10q21.3, and C4 Are Associated With the Risk of Systemic Lupus Erythematosus in Korean Women
Article
65
10.1002/art.37854
1055-1063
ARTHRITIS AND RHEUMATISM
Kim, JiHong
Jung, SeungHuyn
Bae, Joon-Seol
Lee, HyeSoon
Yim, SeonHee
Park, SoYeon
Bang, SoYoung
Hu, HaeJin
Shin, Hyoung-Doo
Bae, SangCheol
2013009027
S
COLLEGE OF MEDICINE[S]
DEPARTMENT OF MEDICINE
sybang
25645654000