Common variants within MECP2 confer risk of systemic lupus erythematosus.
Systemic lupus erythematosus (SLE) is a predominantly female autoimmune disease that affects multiple organ systems. Herein, we report on an X-chromosome gene association with SLE. Methyl-CpG-binding protein 2 (MECP2) is located on chromosome Xq28 and encodes for a protein that plays a critical role...
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| Main Authors: | , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2008-03-01
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| Series: | PLoS ONE |
| Online Access: | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0001727&type=printable |
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| author | Amr H Sawalha Ryan Webb Shizhong Han Jennifer A Kelly Kenneth M Kaufman Robert P Kimberly Marta E Alarcón-Riquelme Judith A James Timothy J Vyse Gary S Gilkeson Chan-Bum Choi R Hal Scofield Sang-Cheol Bae Swapan K Nath John B Harley |
| author_facet | Amr H Sawalha Ryan Webb Shizhong Han Jennifer A Kelly Kenneth M Kaufman Robert P Kimberly Marta E Alarcón-Riquelme Judith A James Timothy J Vyse Gary S Gilkeson Chan-Bum Choi R Hal Scofield Sang-Cheol Bae Swapan K Nath John B Harley |
| author_sort | Amr H Sawalha |
| collection | DOAJ |
| description | Systemic lupus erythematosus (SLE) is a predominantly female autoimmune disease that affects multiple organ systems. Herein, we report on an X-chromosome gene association with SLE. Methyl-CpG-binding protein 2 (MECP2) is located on chromosome Xq28 and encodes for a protein that plays a critical role in epigenetic transcriptional regulation of methylation-sensitive genes. Utilizing a candidate gene association approach, we genotyped 21 SNPs within and around MECP2 in SLE patients and controls. We identify and replicate association between SLE and the genomic element containing MECP2 in two independent SLE cohorts from two ethnically divergent populations. These findings are potentially related to the overexpression of methylation-sensitive genes in SLE. |
| format | Article |
| id | doaj-art-3951a4f4528f4e5395924a8e5de16241 |
| institution | OA Journals |
| issn | 1932-6203 |
| language | English |
| publishDate | 2008-03-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj-art-3951a4f4528f4e5395924a8e5de162412025-08-20T02:00:47ZengPublic Library of Science (PLoS)PLoS ONE1932-62032008-03-0133e172710.1371/journal.pone.0001727Common variants within MECP2 confer risk of systemic lupus erythematosus.Amr H SawalhaRyan WebbShizhong HanJennifer A KellyKenneth M KaufmanRobert P KimberlyMarta E Alarcón-RiquelmeJudith A JamesTimothy J VyseGary S GilkesonChan-Bum ChoiR Hal ScofieldSang-Cheol BaeSwapan K NathJohn B HarleySystemic lupus erythematosus (SLE) is a predominantly female autoimmune disease that affects multiple organ systems. Herein, we report on an X-chromosome gene association with SLE. Methyl-CpG-binding protein 2 (MECP2) is located on chromosome Xq28 and encodes for a protein that plays a critical role in epigenetic transcriptional regulation of methylation-sensitive genes. Utilizing a candidate gene association approach, we genotyped 21 SNPs within and around MECP2 in SLE patients and controls. We identify and replicate association between SLE and the genomic element containing MECP2 in two independent SLE cohorts from two ethnically divergent populations. These findings are potentially related to the overexpression of methylation-sensitive genes in SLE.https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0001727&type=printable |
| spellingShingle | Amr H Sawalha Ryan Webb Shizhong Han Jennifer A Kelly Kenneth M Kaufman Robert P Kimberly Marta E Alarcón-Riquelme Judith A James Timothy J Vyse Gary S Gilkeson Chan-Bum Choi R Hal Scofield Sang-Cheol Bae Swapan K Nath John B Harley Common variants within MECP2 confer risk of systemic lupus erythematosus. PLoS ONE |
| title | Common variants within MECP2 confer risk of systemic lupus erythematosus. |
| title_full | Common variants within MECP2 confer risk of systemic lupus erythematosus. |
| title_fullStr | Common variants within MECP2 confer risk of systemic lupus erythematosus. |
| title_full_unstemmed | Common variants within MECP2 confer risk of systemic lupus erythematosus. |
| title_short | Common variants within MECP2 confer risk of systemic lupus erythematosus. |
| title_sort | common variants within mecp2 confer risk of systemic lupus erythematosus |
| url | https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0001727&type=printable |
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