Abstract：
:Genetic polymorphisms in cytokine genes, which influence gene expression, may have an important impact on SLE susceptibility and severity. The aim of this study was to examine the possible influence of two functional polymorphisms in cis-regulatory regions of IL12B gene in the susceptibility and clinical symptoms of SLE in Bulgarian patients. Female SLE patients (n = 141) and 124 healthy women were included in the study. Genotyping for the IL12B A/C polymorphism in 3'UTR was performed by restriction fragment length polymorphisms PCR assay and for the IL12Bpro polymorphism by allele-specific PCR. Genotype-22 of IL12Bpro polymorphism was overrepresented among women with SLE (28 vs. 17%; OR = 1.875; 95% CI: 1.037 ÷ 3.390; P = 0.037). Respectively, a higher frequency of allele-2 was found in patients than in controls (51% vs. 40%; OR = 1.566; 95% CI: 1.110 ÷ 2.210; P = 0.011). Also, we found significantly elevated frequency of genotype-22 of IL12Bpro polymorphism among SLE patients who were simultaneously carrier of genotype-AA of SNP in 3'UTR. Women with both homozygous genotypes, genotype-AA of SNP in 3'UTR and genotype-22 of IL12Bpro polymorphism, had a 2.1-fold significantly elevated risk for SLE development. The carrying of genotype-11 of IL12Bpro polymorphism was positively associated with hematological and neuropsychiatric manifestations of SLE. We have provided evidence that the IL12Bpro polymorphism was associated with SLE development among Bulgarian women. Although a strong individual effect of SNP in 3'UTR of IL12B was not detected, we found that genotype-22 of IL12Bpro was predominantly combined with genotype-AA of SNP in 3'UTR among SLE patients and this combination elevates the risk of SLE.
journal_name
Rheumatol Intjournal_title
Rheumatology internationalauthors
Miteva LD,Manolova IM,Ivanova MG,Rashkov RK,Stoilov RM,Gulubova MV,Stanilova SAdoi
10.1007/s00296-010-1547-6subject
Has Abstractpub_date
2012-01-01 00:00:00pages
53-9issue
1eissn
0172-8172issn
1437-160Xjournal_volume
32pub_type
杂志文章abstract：:Fibrosis is unregulated tissue repair that may cause impairment of organ function, especially in end-organ damage. Systemic sclerosis (SSc) is the prototype systemic fibrosing disorder. Classical targets for fibrosis in SSc like transforming growth factor Beta (TGF-β), Interleukin-6 (IL-6), and multiple tyrosine kinas...
journal_title：Rheumatology international
pub_type： 杂志文章,评审
doi：10.1007/s00296-019-04317-5
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abstract：:Systemic sclerosis (SSc) is a generalized disorder characterized by fibrosis and vascular obliteration in the skin, lung, gastrointestinal tract, and kidney. One of its two subsets is a stable, limited cutaneous group (lSSc). Pulmonary involvement in scleroderma is common, and several types of pulmonary disorders are ...
journal_title：Rheumatology international
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doi：10.1007/s00296-002-0230-y
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journal_title：Rheumatology international
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journal_title：Rheumatology international
pub_type： 杂志文章
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journal_title：Rheumatology international
pub_type： 杂志文章,多中心研究
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journal_title：Rheumatology international
pub_type： 杂志文章,多中心研究
doi：10.1007/s00296-018-4150-x
更新日期：2018-12-01 00:00:00
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journal_title：Rheumatology international
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journal_title：Rheumatology international
pub_type： 杂志文章
doi：10.1007/s00296-008-0743-0
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journal_title：Rheumatology international
pub_type： 杂志文章,评审
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journal_title：Rheumatology international
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journal_title：Rheumatology international
pub_type： 杂志文章
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journal_title：Rheumatology international
pub_type： 杂志文章
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journal_title：Rheumatology international
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pub_type： 杂志文章,评审
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journal_title：Rheumatology international
pub_type： 杂志文章
doi：10.1007/s00296-020-04602-8
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journal_title：Rheumatology international
pub_type： 杂志文章
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journal_title：Rheumatology international
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journal_title：Rheumatology international
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journal_title：Rheumatology international
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journal_title：Rheumatology international
pub_type： 杂志文章
doi：10.1007/BF00541204
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journal_title：Rheumatology international
pub_type： 杂志文章
doi：10.1007/BF00290248
更新日期：1991-01-01 00:00:00
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journal_title：Rheumatology international
pub_type： 杂志文章
doi：10.1007/s00296-010-1705-x
更新日期：2012-03-01 00:00:00
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journal_title：Rheumatology international
pub_type： 杂志文章,随机对照试验
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更新日期：2011-10-01 00:00:00
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journal_title：Rheumatology international
pub_type： 杂志文章
doi：10.1007/s00296-009-1265-0
更新日期：2011-12-01 00:00:00
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journal_title：Rheumatology international
pub_type： 杂志文章
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更新日期：2012-03-01 00:00:00
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journal_title：Rheumatology international
pub_type： 杂志文章
doi：10.1007/s00296-012-2500-7
更新日期：2013-05-01 00:00:00
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journal_title：Rheumatology international
pub_type： 杂志文章
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更新日期：2010-05-01 00:00:00
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journal_title：Rheumatology international
pub_type： 临床试验,杂志文章,多中心研究,随机对照试验
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更新日期：1995-01-01 00:00:00
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journal_title：Rheumatology international
pub_type： 杂志文章
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更新日期：2013-04-01 00:00:00
