Novel association of acid phosphatase locus 1*C allele with systemic lupus erythematosus

Teruel, María; Martin, Jose-Ezequiel; Ortego-Centeno, Norbérto; Jiménez-Alonso, J; Sánchez-Román, Julio; Enrique, Rafael; González‐Escribano, María Francisca; Pons-Estel, Bernardo A.; D’Alfonso, Sandra; Witte, Torsten; Bottini, Nunzio; Alarcón‐Riquelme, Marta E.; Martı́n, Javier

doi:10.1016/j.humimm.2011.10.012

Cited by 9 publications

(4 citation statements)

References 28 publications

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“…The absence of association with CD might not be because of type II error (false negative) because our study has between 73% of statistical power to detect a risk of disease with an OR of 1.37 obtained to SLE susceptibility (20), a CD prevalence of 60–120/100,000 habitants in Spain and a minor allele frequency of 0.05 at the 5% significance level. Analogously, the statistical power to detect a significant effect of the studied ACP1 polymorphisms in UC was between 75% under the same conditions described above, but considering a UC Spanish prevalence of 70–150/100,000 habitants.…”

Section: Distribution Of Genotype and Allelic Frequencies Of Acp1 Polmentioning

confidence: 82%

“…Allelic polymorphisms of the ACP1 gene have been associated with susceptibility to several human diseases, including inflammatory and autoimmune diseases, such as immunoglobulin (Ig)E level, atopy (15, 16) and atherosclerosis diseases (17, 18). More recently, ACP1 has been associated with an increased risk of cardiovascular complications in patients with rheumatoid arthritis (19) and with susceptibility to systemic lupus erythematosus (SLE) (20). Furthermore, there is evidence that suggests that ACP1 gene could influence the susceptibility to IBD (21, 22).…”

Section: Distribution Of Genotype and Allelic Frequencies Of Acp1 Polmentioning

confidence: 99%

“…Rs11553742 and rs7576247 were selected because of their ability to tag classical ACP1 alleles (i.e. ACP1*A , ACP1*B and ACP1*C ) (19, 20, 24), so that ACP1*A allele differs from ACP1*C allele in two base substitutions in those positions, hence CG allele combination is responsible for the ACP1*A allele and TA for the ACP1*C allele. In addition, ACP1*B allele is defined as not *A, not *C, i.e.…”

Section: Distribution Of Genotype and Allelic Frequencies Of Acp1 Polmentioning

confidence: 99%

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Lack of association of ACP1 gene with inflammatory bowel disease: a case–control study

Teruel¹,

Gómez-García²,

Cardeña³

et al. 2012

Tissue Antigens

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The red cell acid phosphatease (ACP1) gene, which encodes a low molecular weight phosphotyrosine phosphatase (LMW-PTP), has been suggested as a common genetic factor of autoimmunity. In the present study, we aimed to investigate the possible influence of ACP1 polymorphisms in the susceptibility of inflammatory bowel disease (IBD). A total of 1271 IBD Spanish patients [720 Crohn's disease (CD) and 551 ulcerative colitis (UC)] and 1877 healthy subjects were included. Four single-nucleotide polymorphisms (SNPs), rs10167992, rs11553742, rs7576247 and rs3828329, were genotyped using TaqMan SNP genotyping assays. Common ACP1 alleles (i.e. ACP1*A, ACP1*B and ACP1*C) were determined by two of these SNPs. After the analysis, no evidence of association of the ACP1 genetic variants was found with CD or UC. Therefore, our results suggest that the ACP1 gene may not play a relevant role in the development of IBD.

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Section: Distribution Of Genotype and Allelic Frequencies Of Acp1 Polmentioning

confidence: 82%

Section: Distribution Of Genotype and Allelic Frequencies Of Acp1 Polmentioning

confidence: 99%

Section: Distribution Of Genotype and Allelic Frequencies Of Acp1 Polmentioning

confidence: 99%

See 1 more Smart Citation

Lack of association of ACP1 gene with inflammatory bowel disease: a case–control study

Teruel¹,

Gómez-García²,

Cardeña³

et al. 2012

Tissue Antigens

View full text Add to dashboard Cite

show abstract

“…All Drosophila LMWPs ( primo‐1 , primo‐2 , CG14297 and CG31469 ) are orthologous to the ubiquitously expressed human enzyme red cell acid phosphatase gene ( ACP1 ). ACP1 polymorphisms have been associated with hemolytic conditions such as favism and hemolytic anemia, which manifests in systemic lupus erythematosus [215,216]. In one colorectal cancer study, an ACP1 polymorphism was associated with cancer [217].…”

Section: The Drosophila Tyrosine Phosphatome Is a Streamlined Versionmentioning

confidence: 99%

A Drosophila‐centric view of protein tyrosine phosphatases

et al. 2015

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a b s t r a c tMost of our knowledge on protein tyrosine phosphatases (PTPs) is derived from human pathologies and mouse knockout models. These models largely correlate well with human disease phenotypes, but can be ambiguous due to compensatory mechanisms introduced by paralogous genes. Here we present the analysis of the PTP complement of the fruit fly and the complementary view that PTP studies in Drosophila will accelerate our understanding of PTPs in physiological and pathological conditions. With only 44 PTP genes, Drosophila represents a streamlined version of the human complement. Our integrated analysis places the Drosophila PTPs into evolutionary and functional contexts, thereby providing a platform for the exploitation of the fly for PTP research and the transfer of knowledge onto other model systems.

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Association of ACP1 gene polymorphisms and coronary artery disease in northeast Chinese population

et al. 2015

J Genet

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Novel association of acid phosphatase locus 1*C allele with systemic lupus erythematosus

Cited by 9 publications

References 28 publications

Lack of association of ACP1 gene with inflammatory bowel disease: a case–control study

Lack of association of ACP1 gene with inflammatory bowel disease: a case–control study

A Drosophila‐centric view of protein tyrosine phosphatases

Association of ACP1 gene polymorphisms and coronary artery disease in northeast Chinese population

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