TY - JOUR
T1 - Novel association of acid phosphatase locus 1*C allele with systemic lupus erythematosus
AU - Teruel, María
AU - Martin, Jose Ezequiel
AU - Ortego-Centeno, Norberto
AU - Jiménez-Alonso, Juan
AU - Sánchez-Román, Julio
AU - de Ramón, Enrique
AU - Gonzalez-Escribano, M. Francisca
AU - Pons-Estel, Bernardo A.
AU - D'Alfonso, Sandra
AU - Sebastiani, Gian Domenico
AU - Witte, Torsten
AU - Bottini, Nunzio
AU - González-Gay, Miguel A.
AU - Alarcón-Riquelme, Marta E.
AU - Martin, Javier
N1 - Funding Information:
We thank Sofía Vargas and Sonia Rodríguez for their excellent technical assistance. We thank the Banco Nacional de ADN (University of Salamanca, Spain), which supplied some of the control DNA samples, and all patients and donors for their collaboration. This work was supported by the RETICS Program , RD08/0075 (RIER), from the Instituto de Salud Carlos III (ISCIII), within the VI PN de I+D+i 2008–2011 (FEDER). MT was supported by the Spanish Ministry of Science through the subprogram Juan de la Cierva ( JCI-2010-08227 ).
PY - 2012/1
Y1 - 2012/1
N2 - The red cell acid phosphatase (ACP1) gene, which encodes a low-molecular-weight phosphotyrosine phosphatase, has been suggested as a common genetic factor of autoimmunity. In the present study, we aim to investigate the possible association of ACP1 with the susceptibility of systemic lupus erythematosus (SLE). A total of 1,546 SLE patients and 1,947 healthy individuals from 4 Caucasians populations were included in the present study. Four single-nucleotide polymorphisms (SNPs) were genotyped in this study: rs10167992, rs11553742, rs7576247, and rs3828329. ACP1*A, ACP1*B, and ACP1*C codominant ACP1 alleles were determined using 2 of the SNPs and analyzed. After the meta-analysis test was performed, a significant association of rs11553742*T was observed (p pooled = 0.005, odds ratios = 1.37 [1.10-1.70]), retaining significance after multiple testing was applied (p FDR = 0.019). Our data indicate for first time the association of rs11553742*T with increased susceptibility in SLE patients.
AB - The red cell acid phosphatase (ACP1) gene, which encodes a low-molecular-weight phosphotyrosine phosphatase, has been suggested as a common genetic factor of autoimmunity. In the present study, we aim to investigate the possible association of ACP1 with the susceptibility of systemic lupus erythematosus (SLE). A total of 1,546 SLE patients and 1,947 healthy individuals from 4 Caucasians populations were included in the present study. Four single-nucleotide polymorphisms (SNPs) were genotyped in this study: rs10167992, rs11553742, rs7576247, and rs3828329. ACP1*A, ACP1*B, and ACP1*C codominant ACP1 alleles were determined using 2 of the SNPs and analyzed. After the meta-analysis test was performed, a significant association of rs11553742*T was observed (p pooled = 0.005, odds ratios = 1.37 [1.10-1.70]), retaining significance after multiple testing was applied (p FDR = 0.019). Our data indicate for first time the association of rs11553742*T with increased susceptibility in SLE patients.
KW - ACP1
KW - SNP
KW - Susceptibility
KW - Systemic lupus erythematosus
UR - https://www.scopus.com/pages/publications/84355162020
U2 - 10.1016/j.humimm.2011.10.012
DO - 10.1016/j.humimm.2011.10.012
M3 - Article
SN - 0198-8859
VL - 73
SP - 107
EP - 110
JO - Human Immunology
JF - Human Immunology
IS - 1
ER -