Common variants within MECP2 confer risk of systemic lupus erythematosus

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

doi:10.1371/journal.pone.0001727

Common variants within MECP2 confer risk of systemic lupus erythematosus

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

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Abstract

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 regulation of methylation-sensitive genes. Utilizing a candidate gene association, we genotyped 21 SNPs within and around MECP2 in SLE patiehts 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.

Original language	English (US)
Article number	e1727
Journal	PloS one
Volume	3
Issue number	3
DOIs	https://doi.org/10.1371/journal.pone.0001727
State	Published - Mar 5 2008
Externally published	Yes

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Sawalha, A. H., Webb, R., Han, S., Kelly, J. A., Kaufman, K. M., Kimberly, R. P., Alarcón-Riquelme, M. E., James, J. A., Vyse, T. J., Gilkeson, G. S., Choi, C. B., Scofield, R. H., Bae, S. C., Nath, S. K., & Harley, J. B. (2008). Common variants within MECP2 confer risk of systemic lupus erythematosus. PloS one, 3(3), Article e1727. https://doi.org/10.1371/journal.pone.0001727

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title = "Common variants within MECP2 confer risk of systemic lupus erythematosus",

abstract = "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 regulation of methylation-sensitive genes. Utilizing a candidate gene association, we genotyped 21 SNPs within and around MECP2 in SLE patiehts 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.",

author = "Sawalha, {Amr H.} and Ryan Webb and Shizhong Han and Kelly, {Jennifer A.} and Kaufman, {Kenneth M.} and Kimberly, {Robert P.} and Alarc{\'o}n-Riquelme, {Marta E.} and James, {Judith A.} and Vyse, {Timothy J.} and Gilkeson, {Gary S.} and Choi, {Chan Bum} and Scofield, {R. Hal} and Bae, {Sang Cheol} and Nath, {Swapan K.} and Harley, {John B.}",

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AU - Sawalha, Amr H.

AU - Webb, Ryan

AU - Han, Shizhong

AU - Kelly, Jennifer A.

AU - Kaufman, Kenneth M.

AU - Kimberly, Robert P.

AU - Alarcón-Riquelme, Marta E.

AU - James, Judith A.

AU - Vyse, Timothy J.

AU - Gilkeson, Gary S.

AU - Choi, Chan Bum

AU - Scofield, R. Hal

AU - Bae, Sang Cheol

AU - Nath, Swapan K.

AU - Harley, John B.

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AB - 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 regulation of methylation-sensitive genes. Utilizing a candidate gene association, we genotyped 21 SNPs within and around MECP2 in SLE patiehts 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.

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Common variants within MECP2 confer risk of systemic lupus erythematosus

Abstract

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