Further Evidence of Subphenotype Association with Systemic Lupus Erythematosus Susceptibility Loci: A European Cases Only Study

Alonso-Pérez, Elisa; Suarez-Gestal, Marian; Calaza, Manuel; Ordi‐Ros, Josep; Balada, Eva; Bijl, Marc; Papasteriades, Chryssa; Carreira, Patrícia; Skopouli, Fotini N.; Witte, Torsten; Endreffy, E.; Marchini, Maurizio; Migliaresi, S.; Santos, María José; Blanco, Francisco J.; Barizzone, Nadia; Pullmann, R; Růžicková, Š; Lauwerys, Bernard; Gómez-Reino, Juan J.; González, Antonio

doi:10.1371/journal.pone.0045356

Cited by 29 publications

(25 citation statements)

References 42 publications

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“…A study on individuals of European descent showed an association between lupus and variants within the MECP2 gene [11]. Another study regarding gene association in SLE concluded that the susceptibility of genes including MECP2 was correlated with SLE in individuals of European ancestry [10]. A study of the Korean population confirmed that there were significant associations between the variants of SNPs within MECP2 in Korean patients and systemic lupus erythematous [5].…”

Section: Introductionmentioning

confidence: 97%

“…Also, MECP2 has an ability to recruit DNA methyltransferase1 (DNMT1), which causes inactivation of gene expression. Single nucleotide polymorphisms (SNPs) of the MECP2 gene have been associated with SLE pathogenesis in some studies [9,10]. A study on individuals of European descent showed an association between lupus and variants within the MECP2 gene [11].…”

Section: Introductionmentioning

confidence: 99%

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Methyl-CpG-Binding Protein 2 (MECP2) Polymorphism in Iranian Patients with Systemic Lupus Erythematosus

et al. 2015

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Systemic lupus erythematosus (SLE) is a chronic autoimmune disease which involves many organs and presents with various symptoms. It has been shown that genetic and environmental factors play a major role in this disease and may affect the onset, activity, damage, and mortality of the disease. According to recent studies, methyl-CpG-binding protein 2 (MECP2) has been associated with SLE in various populations. Herein, we studied MECP2 polymorphism in Iranian lupus patients and controls. The study included a total of 884 samples of Iranian ancestry (492 independent SLE patients and 392 unrelated healthy controls). Healthy controls were gender-, ethnic-, and age-matched with the patients. Patient and control samples were genotyped for rs1734787, rs1734791, rs1734792, and rs17435 by applying the Allelic Discrimination Real-Time PCR System. Our results showed a significant association between rs1734787 and rs1734791 SNPs and the risk of SLE in the Iranian population (p = 0.028, p = 0.028), but did not show any significant association with rs1734792 and rs17435 SNPs (p = 075, p = 0.75). The rs1734787 C and the rs1734791 T allele frequencies in the patients were significantly higher than the control group (p = 0.014, p = 0.012). In addition, a significant CTAT haplotype frequency was observed in cases with SLE (p = 0.012), and a significant AAAT haplotype frequency was observed in the control group (p = 0.0003). However, there was no significant association between genotype frequencies and SLE patients. Also, there was no significant association between these SNPs and clinical features. The result of this study suggests that polymorphism in the MECP2 locus is associated with the susceptibility of Iranian SLE patients.

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Section: Introductionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 99%

Methyl-CpG-Binding Protein 2 (MECP2) Polymorphism in Iranian Patients with Systemic Lupus Erythematosus

et al. 2015

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“…Polymorphisms in the XKR4 gene seem to be associated with the effect of the dopamine iloperidone antagonist (used in schizophrenia treatment) [151]; this finding may provide important information with respect to patient response to this drug. Meanwhile, a polymorphism in XKR6 was correlated with lupus nephritis which is a defect in patients with SLE [152] which is characterized by the immune system attacking the cells and tissues of the host, thereby leading to inflammation in various organs of the body. However, the role of XKR6 in the development of this disease yet remains unclear.…”

Section: Phospholipid Scramblases In Human Diseasesmentioning

confidence: 99%

Roles and regulation of phospholipid scramblases

et al. 2014

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Phospholipid scramblase activity is involved in the collapse of phospholipid (PL) asymmetry at the plasma membrane leading to externalization of phosphatidylserine. This activity is crucial for initiation of the blood coagulation cascade and for recognition/elimination of apoptotic cells by macrophages. Efforts to identify gene products associated with this activity led to the characterization of PL scramblase (PLSCR) and XKR family members which contribute to phosphatidylserine exposure in response to apoptotic stimuli. Meanwhile, TMEM16 family members were identified to externalize phosphatidylserine in response to elevated calcium in Scott syndrome platelets, which is critical for activation of the coagulation cascade. Herein, we report their mechanisms of gene regulation, molecular functions independent of their scrambling activity, and their potential roles in pathogenic conditions.

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“…Recently, however, several genotype-phenotype association studies on systemic lupus erythematosus and generalized vitiligo have been conducted, which identified specific phenotype-associated gene variants [9,10,11]. Therefore, a better understanding of the relationships between genotypes and phenotypes of the disease may help to further elucidate disease mechanisms.…”

Section: Introductionmentioning

confidence: 99%

Genotype-Phenotype Correlations in Severe Acne in a Han Chinese Population

Yang

Wu²,

He³

et al. 2014

Dermatology

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Background: Two novel susceptibility gene loci (1q24.2 and 11p11.2) for severe acne have been identified in a genome-wide association study of a Han Chinese population. Objective: The current study investigated the relationships of these gene loci with clinical phenotypes, including onset age, atrophic scarring, hypertrophic scarring and family history. Furthermore, we investigated the correlations between these four clinical phenotypes. Methods: We used the χ² test to compare the allele frequency among the different clinical phenotypes. We calculated Spearman's correlation coefficient to measure the relationship between the different clinical phenotypes. Results: We identified significant associations between the 11p11.2 locus and disease family history (p < 0.05). We also determined that hypertrophic scarring was moderately correlated with atrophic scarring (r_s = 0.315). Conclusions: This study suggests that the susceptibility gene locus 11p11.2 may contribute to the complex phenotypes of severe acne, particularly in cases of hereditary severe acne, whereas there are also correlations between the different phenotypes.

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Further Evidence of Subphenotype Association with Systemic Lupus Erythematosus Susceptibility Loci: A European Cases Only Study

Cited by 29 publications

References 42 publications

Methyl-CpG-Binding Protein 2 (MECP2) Polymorphism in Iranian Patients with Systemic Lupus Erythematosus

Methyl-CpG-Binding Protein 2 (MECP2) Polymorphism in Iranian Patients with Systemic Lupus Erythematosus

Roles and regulation of phospholipid scramblases

Genotype-Phenotype Correlations in Severe Acne in a Han Chinese Population

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