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Association of Single Nucleotide Polymorphisms in Apolipoprotein H (APOH) with Systemic Lupus Erythematosus

Corthell, Leia S (2007) Association of Single Nucleotide Polymorphisms in Apolipoprotein H (APOH) with Systemic Lupus Erythematosus. Master's Thesis, University of Pittsburgh. (Unpublished)

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Systemic lupus erythematosus (SLE) is a major public health problem in the United States. It is estimated that at least 500,000 Americans suffer from (SLE), which is a complex autoimmune disease of primarily unknown etiology. SLE is about three times more common in African Americans (about 1:250 incidence) than in Caucasian Americans (about 1:1000 incidence), and predominantly affects women of child-bearing age (female to male ratio of 9:1). SLE causes a variable amount of morbidity, shortened life expectancy, and substantial total health expenditures, largely due to complications such as thrombosis, atherosclerosis, renal disease, and antiphospholipid syndrome (APS). Genetics plays a significant role in the etiology of SLE; therefore, understanding the underlying genetic influence of this disease is of significant public health importance. This study dealt with the analysis of one of the genes that has been proposed to play a role in the pathogenesis of SLE: apolipoprotein H (APOH gene, apoH protein), also referred to as B2-glycoprotein I (B2-GPI). ApoH is thought to have anti-atherogenic properties and has been shown to be a major target antigen for antiphospholipid antibodies (APA) present in patients with APS. Twelve APOH SNPs (9 TagSNPs and 3 additional functional coding SNPs) were genotyped in 398 women with a clinical diagnosis of SLE and 496 healthy women as controls. The associations of allele and genotype distributions of these 12 SNPs with SLE, race, renal disease in white patients, and APA in black and white patients and controls were analyzed. Significant allelic distribution differences were observed between whites and blacks for 9 of the 12 SNPs, indicating a race-dependent variation. No associations were found between genotype distributions in any of the 12 SNPs and SLE, renal disease, or APA status. However, haplotype analysis revealed six haplotypes that significantly differed in frequency between cases and controls. Of particular interest was one haplotype that was present in 16.2% of cases and 0.6% of controls, suggesting a potential risk factor for SLE. In conclusion, our study suggests that combined effects of APOH SNPs (haplotype) may be implicated in modifying the risk of SLE.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Corthell, Leia and
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairKamboh, M Ilyasilyas.kamboh@mail.hgen.pitt.eduKAMBOH
Committee MemberFinegold, David Ndavid.finegold@mail.hgen.pitt.eduDNF
Committee MemberDemirci, F Yesimyesim.demirci@mail.hgen.pitt.eduFYD1
Date: 26 June 2007
Date Type: Completion
Defense Date: 10 April 2007
Approval Date: 26 June 2007
Submission Date: 13 April 2007
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Genetic Counseling
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: linkage disequilibrium; lupus nephritis
Other ID:, etd-04132007-093207
Date Deposited: 10 Nov 2011 19:36
Last Modified: 15 Nov 2016 13:40


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