Polymorphic variants of antioxidative defense enzymes and their gene-gene epistatic interactions in systemic lupus erythematode patients

Polymorphic variants of antioxidative defense enzymes and their gene-gene epistatic interactions... Systemic lupus erythematosus (SLE) is a chronic autoimmune disease in which pathogenesis oxidative stress has an important role. Single nucleotide polymorphisms (SNPs) in the genes that code enzymes involved in the antioxidative defense are possible factors that are responsible for their decreased activity of antioxidative defense enzymes. Thus, the aim of the study was to examine association of SNPs in these genes with SLE. A total of176 subjects were involved in this study. CAT A-21T (rs7943316), CAT C-262T (rs1001139) and manganese SOD (MnSOD) Ala16Val (rs4880) SNPs were determined using PCR-RFLP method, while GSTT1 and GSTM1 were determined using multiplex PCR. The obtained results showed significant differences in the distribution of genotypes (df = 2; p = 0.001) and alleles (p < 0.001; OR = 2.227; 95% CI = 1.429–3.741) of rs4880 between patients and controls. MnSODValVal genotype showed association with neurologic manifestations (p = 0.016; OR = 6.7; 95% CI = 1.18–37.89), while homozygous GSTT1 showed association with musculoskeletal manifestations of SLE (p = 0.008; OR = 4.168; 95% CI = 1.364–12.737). AlaVal/T+M+ genotype combination is a high-risk genotype for SLE. SNP–SNP interaction model showed positive correlation between CAT A-21T and CAT C-262T SNPs in SLE patients which was not influenced by the linkage disequilibrium (r 2 = 0.005; D′ = 0.071). MnSODVal allele is a risk factor for SLE, as well as for SLE with neurologic manifestations, while homozygous GSTT1 genotype is a risk factor for SLE with musculoskeletal manifestations. Catalase SNPs (C-262T and A-21T) show positive correlation in the model of SNP–SNP interaction. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Rheumatology Springer Journals

Polymorphic variants of antioxidative defense enzymes and their gene-gene epistatic interactions in systemic lupus erythematode patients

Loading next page...
 
/lp/springer_journal/polymorphic-variants-of-antioxidative-defense-enzymes-and-their-gene-jCnpCnEeO2
Publisher
Springer London
Copyright
Copyright © 2017 by International League of Associations for Rheumatology (ILAR)
Subject
Medicine & Public Health; Rheumatology
ISSN
0770-3198
eISSN
1434-9949
D.O.I.
10.1007/s10067-017-3755-x
Publisher site
See Article on Publisher Site

Abstract

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease in which pathogenesis oxidative stress has an important role. Single nucleotide polymorphisms (SNPs) in the genes that code enzymes involved in the antioxidative defense are possible factors that are responsible for their decreased activity of antioxidative defense enzymes. Thus, the aim of the study was to examine association of SNPs in these genes with SLE. A total of176 subjects were involved in this study. CAT A-21T (rs7943316), CAT C-262T (rs1001139) and manganese SOD (MnSOD) Ala16Val (rs4880) SNPs were determined using PCR-RFLP method, while GSTT1 and GSTM1 were determined using multiplex PCR. The obtained results showed significant differences in the distribution of genotypes (df = 2; p = 0.001) and alleles (p < 0.001; OR = 2.227; 95% CI = 1.429–3.741) of rs4880 between patients and controls. MnSODValVal genotype showed association with neurologic manifestations (p = 0.016; OR = 6.7; 95% CI = 1.18–37.89), while homozygous GSTT1 showed association with musculoskeletal manifestations of SLE (p = 0.008; OR = 4.168; 95% CI = 1.364–12.737). AlaVal/T+M+ genotype combination is a high-risk genotype for SLE. SNP–SNP interaction model showed positive correlation between CAT A-21T and CAT C-262T SNPs in SLE patients which was not influenced by the linkage disequilibrium (r 2 = 0.005; D′ = 0.071). MnSODVal allele is a risk factor for SLE, as well as for SLE with neurologic manifestations, while homozygous GSTT1 genotype is a risk factor for SLE with musculoskeletal manifestations. Catalase SNPs (C-262T and A-21T) show positive correlation in the model of SNP–SNP interaction.

Journal

Clinical RheumatologySpringer Journals

Published: Jul 15, 2017

References

You’re reading a free preview. Subscribe to read the entire article.


DeepDyve is your
personal research library

It’s your single place to instantly
discover and read the research
that matters to you.

Enjoy affordable access to
over 18 million articles from more than
15,000 peer-reviewed journals.

All for just $49/month

Explore the DeepDyve Library

Search

Query the DeepDyve database, plus search all of PubMed and Google Scholar seamlessly

Organize

Save any article or search result from DeepDyve, PubMed, and Google Scholar... all in one place.

Access

Get unlimited, online access to over 18 million full-text articles from more than 15,000 scientific journals.

Your journals are on DeepDyve

Read from thousands of the leading scholarly journals from SpringerNature, Elsevier, Wiley-Blackwell, Oxford University Press and more.

All the latest content is available, no embargo periods.

See the journals in your area

DeepDyve

Freelancer

DeepDyve

Pro

Price

FREE

$49/month
$360/year

Save searches from
Google Scholar,
PubMed

Create lists to
organize your research

Export lists, citations

Read DeepDyve articles

Abstract access only

Unlimited access to over
18 million full-text articles

Print

20 pages / month

PDF Discount

20% off