The role of short tandem repeat genetic variation in myopia and other ocular traits

Cui, Jiangtian 2022. The role of short tandem repeat genetic variation in myopia and other ocular traits. MPhil Thesis, Cardiff University. Item availability restricted.

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Abstract

The purpose of the study was to identify new genetic risk factors for the ophthalmic traits, strabismus and myopia. Short tandem repeats (STRs) are regions of the genome that contain repetitive sequences of DNA, e.g. CACACACA or ATTGATTGATTG. Their repetitive nature makes STRs prone to mutation during meiosis. Two hypotheses were examined by performing genetic association studies for STR markers in large samples of participants from the UK Biobank project. An initial study was carried out examining the trait ‘self-reported strabismus’. Previous research identified a single nucleotide polymorphism (SNP) on chromosome 17 that was strongly associated with strabismus. Therefore, tests for association of self-reported strabismus and STR markers on chromosome 17 were performed. The STR variant most strongly associated with the phenotype was Human_STR_613083. However, no marker retained evidence of association after accounting for multiple testing using the Bonferroni method. In a second study, a case-control GWAS was performed in which cases with high myopia were compared to controls with moderate-to-high hyperopia. This GWAS identified two STRs associated with case-control status: Human_STR_827099 and Human_STR_424816, nearby the genes PRSS56 and SIX6 on chromosomes 2 and 14, respectively. Conditional analyses revealed the two lead STRs were in linkage disequilibrium with previously identified myopia-associated SNPs. As part of the second study, an analysis of STR genotypes on the X chromosome of male participants revealed that the error rate of STR genotyping was related to the STR motif length.

Item Type:	Thesis (MPhil)
Date Type:	Completion
Status:	Unpublished
Schools:	Optometry and Vision Sciences
Subjects:	R Medicine > RE Ophthalmology
Uncontrolled Keywords:	Refractive error; Myopia; Strabismus; Short tandem repeat; Genetics
Date of First Compliant Deposit:	4 April 2023
Last Modified:	06 Jan 2024 02:19
URI:	https://orca.cardiff.ac.uk/id/eprint/158367

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