title: Influence of MX1 promoter rs2071430 G/T polymorphism on susceptibility to systemic lupus erythematosus.
abstract: The expression of interferon inducible genes are reported to be heightened in systemic lupus erythematosus (SLE); nevertheless, not much is known regarding the genetic variants underlying these genes and their role in the pathogenesis of disease. Herein, we aim to explore the potential association and contribution of polymorphisms in MX1 gene (i) promoter with part of exon 1 (ii) intron 6, and (iii) their resulting haplotypes, with susceptibility to SLE. A total of 306 subjects, 152 SLE and 154 healthy controls (HC), were screened by direct sequencing method. Statistical analysis was carried out using appropriate software. The screening region of interest in MX1 revealed the existence of promoter (-123C/A, -88G/T, -20 A/C) and intron 6 (+9862G/A, +10190G/A, +9901C/G, +9920C/A, +9959C/T, +10047A/G) variants in SLE and HC. A significant association was observed between MX1 -88G/T SNP and susceptibility to SLE (χ (2) = 4.18, p = 0.04, OR = 1.89, 95 % CI 1.03-3.5). Haplotype analysis also revealed increased risk of SLE among individuals carrying CTA haplotype (-123 C, -88 T, -20 A) (χ (2) = 5.74, p = 0.017, OR = 4.28, 95 % CI 1.30-14.06). None of the other tested variants showed any significant association with SLE. The present study is the first to reveal the influence of genetic variation in MX1 gene in susceptibility to SLE.
authors.affiliation: Department of Medical Laboratory Sciences, Faculty of Allied Health Sciences, Kuwait University, PO Box 31470, Sulaibekhat, Kuwait. suadq8@yahoo.com.
authors.forename: Suad
authors.initials: S
authors.lastname: AlFadhli
authors.affiliation: Department of Medical Laboratory Sciences, Faculty of Allied Health Sciences, Kuwait University, PO Box 31470, Sulaibekhat, Kuwait.
authors.forename: Mashael
authors.initials: M
authors.lastname: Al-Mutairi
authors.affiliation: Department of Medical Laboratory Sciences, Faculty of Allied Health Sciences, Kuwait University, PO Box 31470, Sulaibekhat, Kuwait.
authors.forename: Bader
authors.initials: B
authors.lastname: Al Tameemi
authors.affiliation: Department of Medical Laboratory Sciences, Faculty of Allied Health Sciences, Kuwait University, PO Box 31470, Sulaibekhat, Kuwait.
authors.forename: Rasheeba
authors.initials: R
authors.lastname: Nizam
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D064547:Myxovirus Resistance Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D055815:Young Adult
chemical_list: C579071:MX1 protein, human; D064547:Myxovirus Resistance Proteins
keywords: Lupus; MX1 gene; Susceptibility
references.citation: J Autoimmun. 2003 Feb;20(1):15-25
references.pmid: 12604309
references.citation: QJM. 1998 Jun;91(6):393-9
references.pmid: 9709457
references.citation: Arch Dis Child. 2004 Nov;89(11):1014-7
references.pmid: 15499053
references.citation: Proc Natl Acad Sci U S A. 2003 Mar 4;100(5):2610-5
references.pmid: 12604793
references.citation: Arthritis Rheum. 2006 Sep;54(9):2951-62
references.pmid: 16947629
references.citation: Arthritis Res Ther. 2003;5(6):279-87
references.pmid: 14680503
references.citation: Lupus. 2000;9(9):664-71
references.pmid: 11199920
references.citation: J Autoimmun. 2013 Jun;43:78-84
references.pmid: 23623029
references.citation: Proc Natl Acad Sci U S A. 1990 Mar;87(5):2021-5
references.pmid: 2308961
references.citation: J Exp Med. 2003 Mar 17;197(6):711-23
references.pmid: 12642603
references.citation: Pharmacogenetics. 2004 Mar;14(3):189-93
references.pmid: 15167707
references.citation: Hum Genet. 2000 Jun;106(6):639-45
references.pmid: 10942113
references.citation: Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi. 2012 Dec;28(12):1307-10
references.pmid: 23232524
references.citation: Hum Genet. 2014 Feb;133(2):187-97
references.pmid: 24085612
references.citation: Genes Immun. 2003 Apr;4(3):177-86
references.pmid: 12700592
references.citation: Nephrology (Carlton). 2013 Dec;18(12):833-7
references.pmid: 24674141
references.citation: Bioinformatics. 2005 Jan 15;21(2):263-5
references.pmid: 15297300
references.citation: Intervirology. 2001;44(6):379-82
references.pmid: 11805446
references.citation: Mol Ecol Resour. 2008 Jan;8(1):103-6
references.pmid: 21585727
references.citation: Biochem Biophys Res Commun. 2005 Apr 22;329(4):1234-9
references.pmid: 15766558
references.citation: Infect Genet Evol. 2013 Jun;16:186-90
references.pmid: 23438650
references.citation: Neurology. 2004 Feb 10;62(3):457-60
references.pmid: 14872030
references.citation: Curr Opin Immunol. 1998 Dec;10(6):690-6
references.pmid: 9914226
references.citation: J Neurol Sci. 2006 Nov 15;249(2):153-7
references.pmid: 16843495
references.citation: Rejuvenation Res. 2012 Oct;15(5):516-22
references.pmid: 22950423
references.citation: Curr Opin Immunol. 1996 Dec;8(6):843-51
references.pmid: 8994865
references.citation: J Immunol. 2005 Mar 1;174(5):2499-506
references.pmid: 15728455
references.citation: J Clin Invest. 1997 Dec 1;100(11):2873-80
references.pmid: 9389754
references.citation: Rheumatology (Oxford). 2002 May;41(5):563-71
references.pmid: 12011382