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Single Nucleotide Polymorphism rs6445975 in the PXK Gene Is Correlated with Susceptibility and Clinical Characteristics of Systemic Lupus Erythematosus

BACKGROUND: Recently, genome-wide association studies (GWAS) have discovered several single nucleotide polymorphisms (SNPs) and loci associated with the risk of systemic lupus erythematosus (SLE). rs6445975 (T>G; intronic variant) polymorphism in the PXK gene is one of these loci. However, there...

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Autores principales: Karimifar, Mansour, Sereshti, Nafiseh, Salehi, Rasoul, Mousavi, Maryam, Karimzadeh, Hadi, Salehi, Amirhossein, Pakzad, Bahram
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tehran University of Medical Sciences 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9546814/
https://www.ncbi.nlm.nih.gov/pubmed/36249102
http://dx.doi.org/10.18502/ijph.v51i8.10273
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author Karimifar, Mansour
Sereshti, Nafiseh
Salehi, Rasoul
Mousavi, Maryam
Karimzadeh, Hadi
Salehi, Amirhossein
Pakzad, Bahram
author_facet Karimifar, Mansour
Sereshti, Nafiseh
Salehi, Rasoul
Mousavi, Maryam
Karimzadeh, Hadi
Salehi, Amirhossein
Pakzad, Bahram
author_sort Karimifar, Mansour
collection PubMed
description BACKGROUND: Recently, genome-wide association studies (GWAS) have discovered several single nucleotide polymorphisms (SNPs) and loci associated with the risk of systemic lupus erythematosus (SLE). rs6445975 (T>G; intronic variant) polymorphism in the PXK gene is one of these loci. However, there was an inconsistency between the results of replicative studies on European and Asia ancestry. This study aimed to assess the possible association between rs6445975 polymorphism with SLE risk in the Iranian population. METHODS: Genotype and allele distribution of rs6445975 polymorphism were investigated in 110 patients with SLE and 115 healthy controls in Isfahan University of Medical Sciences, Isfahan, Iran in 2019 via real-time PCR high resolution melting method (HRM). RESULTS: GG and TG genotypes, but not TT genotype, were associated with increased risk of SLE (GG vs TT; OR= 7.538; 95%CI [3.47, 17.066] and TG vs TT; OR=2.21; 95%CI [1.06, 4.72]). Inheritance analysis revealed that TG + GG was correlated with the increased risk of SLE disease in the dominant model (OR=3.928; 95%CI [2.056, 7.74]). Moreover, subjects with the G allele were more frequently affected with SLE than individuals with the T allele (OR= 3.55; 95%CI [2.37, 5.36]). The G allele in patients was correlated with serum concentration of CRP, ESR, anti-dsDNA antibody, C3, and C4 and presentation of some clinical manifestations such as kidney involvements and skin lesions (P<0.05). CONCLUSION: Our findings suggest a substantial association between rs6445975 polymorphism in the PXK gene with susceptibility and clinical characteristics of SLE in the Iranian population.
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spelling pubmed-95468142022-10-15 Single Nucleotide Polymorphism rs6445975 in the PXK Gene Is Correlated with Susceptibility and Clinical Characteristics of Systemic Lupus Erythematosus Karimifar, Mansour Sereshti, Nafiseh Salehi, Rasoul Mousavi, Maryam Karimzadeh, Hadi Salehi, Amirhossein Pakzad, Bahram Iran J Public Health Original Article BACKGROUND: Recently, genome-wide association studies (GWAS) have discovered several single nucleotide polymorphisms (SNPs) and loci associated with the risk of systemic lupus erythematosus (SLE). rs6445975 (T>G; intronic variant) polymorphism in the PXK gene is one of these loci. However, there was an inconsistency between the results of replicative studies on European and Asia ancestry. This study aimed to assess the possible association between rs6445975 polymorphism with SLE risk in the Iranian population. METHODS: Genotype and allele distribution of rs6445975 polymorphism were investigated in 110 patients with SLE and 115 healthy controls in Isfahan University of Medical Sciences, Isfahan, Iran in 2019 via real-time PCR high resolution melting method (HRM). RESULTS: GG and TG genotypes, but not TT genotype, were associated with increased risk of SLE (GG vs TT; OR= 7.538; 95%CI [3.47, 17.066] and TG vs TT; OR=2.21; 95%CI [1.06, 4.72]). Inheritance analysis revealed that TG + GG was correlated with the increased risk of SLE disease in the dominant model (OR=3.928; 95%CI [2.056, 7.74]). Moreover, subjects with the G allele were more frequently affected with SLE than individuals with the T allele (OR= 3.55; 95%CI [2.37, 5.36]). The G allele in patients was correlated with serum concentration of CRP, ESR, anti-dsDNA antibody, C3, and C4 and presentation of some clinical manifestations such as kidney involvements and skin lesions (P<0.05). CONCLUSION: Our findings suggest a substantial association between rs6445975 polymorphism in the PXK gene with susceptibility and clinical characteristics of SLE in the Iranian population. Tehran University of Medical Sciences 2022-08 /pmc/articles/PMC9546814/ /pubmed/36249102 http://dx.doi.org/10.18502/ijph.v51i8.10273 Text en Copyright © 2022 Karimifar et al. Published by Tehran University of Medical Sciences https://creativecommons.org/licenses/by-nc/4.0/This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International license (https://creativecommons.org/licenses/by-nc/4.0/). Non-commercial uses of the work are permitted, provided the original work is properly cited.
spellingShingle Original Article
Karimifar, Mansour
Sereshti, Nafiseh
Salehi, Rasoul
Mousavi, Maryam
Karimzadeh, Hadi
Salehi, Amirhossein
Pakzad, Bahram
Single Nucleotide Polymorphism rs6445975 in the PXK Gene Is Correlated with Susceptibility and Clinical Characteristics of Systemic Lupus Erythematosus
title Single Nucleotide Polymorphism rs6445975 in the PXK Gene Is Correlated with Susceptibility and Clinical Characteristics of Systemic Lupus Erythematosus
title_full Single Nucleotide Polymorphism rs6445975 in the PXK Gene Is Correlated with Susceptibility and Clinical Characteristics of Systemic Lupus Erythematosus
title_fullStr Single Nucleotide Polymorphism rs6445975 in the PXK Gene Is Correlated with Susceptibility and Clinical Characteristics of Systemic Lupus Erythematosus
title_full_unstemmed Single Nucleotide Polymorphism rs6445975 in the PXK Gene Is Correlated with Susceptibility and Clinical Characteristics of Systemic Lupus Erythematosus
title_short Single Nucleotide Polymorphism rs6445975 in the PXK Gene Is Correlated with Susceptibility and Clinical Characteristics of Systemic Lupus Erythematosus
title_sort single nucleotide polymorphism rs6445975 in the pxk gene is correlated with susceptibility and clinical characteristics of systemic lupus erythematosus
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9546814/
https://www.ncbi.nlm.nih.gov/pubmed/36249102
http://dx.doi.org/10.18502/ijph.v51i8.10273
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