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miRNAs Related to Age-Related Macular Degeneration, Given Genetic Susceptibility

Peterson-Burch, Frances Marie (2022) miRNAs Related to Age-Related Macular Degeneration, Given Genetic Susceptibility. Doctoral Dissertation, University of Pittsburgh. (Unpublished)

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Background: Age-related macular degeneration (AMD) is characterized by central vision loss stemming from the death of macular tissue. microRNAs (miRNAs) may influence AMD risk.

Purpose: This study examined associations between 1) miR-590-3p and miR-146a-5p and AMD in circulating plasma, 2) miR-590-3p and miR-146a-5p and AMD while considering CFH rs1061170 and ARMS2 rs10490924 genetic risk, and 3) expression quantitative trait loci (eQTLs) and/or microRNA single nucleotide polymorphisms (miRSNPs) for miR-590 and miR-146a and AMD using genome-wide association study (GWAS) data and bioinformatics resources.

Methods: This nested case-control study of 63 cases and 49 aged controls included both biological relatives and sporadic participants. Quantitative polymerase chain reaction (qPCR) was used to assess miRNA levels and AMD. Single variant summary GWAS data from the International Age-Related Macular Degeneration Consortium and eQTL databases were used to explore associations between eQTLs and/or miRSNPs and AMD.

Results: A mixed model linear regression with a kinship matrix found no significant association between miR-590-3p expression and AMD (effect size: -0.764; p=0.150), and the relationship was not influenced by sex (effect size: -.9801; p=0.068). There was a significant association between miR-146a-5p expression and AMD (effect size: -1.674; p=0.0095), but it was not predicted by sex (effect size: -0.364; p=.5700). The linear mixed-effects kinship model fit by maximum likelihood found a significant association between miR-590-3p expression and AMD (effect size: -1.64; p=0.031), but it was not predicted by sex (effect size: -0.884; p=0.098) or genetic risk (effect size: 1.244; p=0.110). The association between miR-146a-5p expression and AMD was not significant (effect size: -1.693; p=0.063), and the relationship was not predicted by sex (effect size: -0.362; p=0.570) or genetic risk (effect size: 0.027; p=0.980). Polymorphisms rs3096021, rs2431688, rs2431690, rs2431691, and rs3096022 in the genomic region of miR-146a were associated with AMD (p<0.05) but were not significant after correcting for multiple testing.

Conclusion: This study found significant associations between 1) miR-146a-5p and AMD and 2) miR-590-3p and AMD when genetic risk was in the model. More research is needed to determine relationships between miRNAs and AMD.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Peterson-Burch, Frances Mariefmj2@pitt.edufmj20000-0002-6428-786X
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairConley, Yvette P.yconley@pitt.eduyconley0000-0002-1784-6067
Committee MemberAlexander, Sheila A.salexand@pitt.edusalexand0000-0001-5866-027X
Committee MemberGorin, Michael B.gorin@jsei.ucla.edu0000-0001-9498-7982
Committee MemberWeeks, Daniel E.weeks@pitt.eduweeks0000-0001-9410-7228
Committee MemberSchmella, Mandy J.mjb111@pitt.edumjb1110000-0003-3543-8048
Date: 15 December 2022
Date Type: Publication
Defense Date: 2 September 2022
Approval Date: 15 December 2022
Submission Date: 4 December 2022
Access Restriction: 2 year -- Restrict access to University of Pittsburgh for a period of 2 years.
Number of Pages: 232
Institution: University of Pittsburgh
Schools and Programs: School of Nursing > Nursing
Degree: PhD - Doctor of Philosophy
Thesis Type: Doctoral Dissertation
Refereed: Yes
Uncontrolled Keywords: miRNA, age-related macular degeneration, miR-590, miR-146a, nursing research, biomarkers
Date Deposited: 15 Dec 2022 19:47
Last Modified: 15 Dec 2022 19:47


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