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Association Analysis of the LTA/TNF/LTB region on chromosome 6p21 with Systemic Lupus Erythematous (SLE)

Kutzner, Jodi (2020) Association Analysis of the LTA/TNF/LTB region on chromosome 6p21 with Systemic Lupus Erythematous (SLE). Master Essay, University of Pittsburgh.

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Systemic Lupus Erythematous (SLE) is a chronic, multisystem autoimmune disease that is characterized by the production of a wide variety of autoantibodies against various self-antigens. SLE is a complex disease that is believed to result from an intricate interaction of environmental and hormonal risk factors with multiple genetic susceptibility loci. The major histocompatibility complex (MHC) region located on chromosome 6p21 was the first risk locus found to be associated with SLE and it still constitutes the strongest contributor to genetic susceptibility. The genes at the MHC locus encode for various proteins including those involved in inflammation, antigen presentation, and other innate and/or adaptive immune responses. The MHC class III region harbors 3 genes belonging to the Tumor Necrosis Factor Super Family, LTA/TNF/LTB, whose protein products show biological interactions. The primary objective of this essay was to investigate the association of genetic polymorphisms at the LTA/TNF/LTB locus with susceptibility to SLE. For this purpose, a total of 14 SNPs (located in the LTA/TNF/LTB gene cluster or flanking intergenic regions) were evaluated for their association with SLE in a case-control sample comprising European-descent subjects (661 cases and 487 controls). Association analysis results implicated two SNPs at this locus in SLE susceptibility: rs1800683 and rs1800629 located within LTA (5’ UTR variant) and between LTA and TNF (TNF promoter variant), respectively. Moderate linkage disequilibrium (LD) was detected between these 2 SNPs (r2<0.5) and the same or closely linked SNPs have also been similarly found to be associated with SLE in prior studies. In summary, the results of this study provide further support for a potential role of functionally relevant LTA/TNF polymorphisms in susceptibility to SLE, a disease that represents a significant public health concern as it affects relatively young adults and causes significant morbidity and mortality.


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Item Type: Other Thesis, Dissertation, or Long Paper (Master Essay)
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Kutzner, Jodijek173@pitt.edujek173
ContributionContributors NameEmailPitt UsernameORCID
Committee ChairDemirci, F. Yesimfyd1@pitt.edufyd1UNSPECIFIED
Committee MemberKammerer, Candacecmk3@pitt.educmk3UNSPECIFIED
Committee MemberKuipers, Allisonakuipers@pitt.eduakuipersUNSPECIFIED
Date: 13 May 2020
Date Type: Completion
Number of Pages: 35
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Public Health Genetics
Degree: MPH - Master of Public Health
Thesis Type: Master Essay
Refereed: Yes
Uncontrolled Keywords: SLE, lupus, LTA, TNF, LTB,SNPs, polymorphisms, association
Date Deposited: 29 Aug 2020 00:53
Last Modified: 01 May 2022 05:15


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