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Mendelian randomization analysis identified genes pleiotropically associated with central corneal thickness
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Mendelian randomization analysis identified genes pleiotropically associated with central corneal thickness
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Journal Article
Mendelian randomization analysis identified genes pleiotropically associated with central corneal thickness
2021
Overview
Objective
To prioritize genes that were pleiotropically or potentially causally associated with central corneal thickness (CCT).
Methods
We applied the summary data-based Mendelian randomization (SMR) method integrating summarized data of genome-wide association study (GWAS) on CCT and expression quantitative trait loci (eQTL) data to identify genes that were pleiotropically associated with CCT. We performed separate SMR analysis using CAGE eQTL data and GTEx eQTL data. SMR analyses were done for participants of European and East Asian ancestries, separately.
Results
We identified multiple genes showing pleiotropic association with CCT in the participants of European ancestry.
CLIC3
(ILMN_1796423; P
SMR
= 4.15 × 10
− 12
),
PTGDS
(ILMN_1664464; P
SMR
= 6.88 × 10
− 9
) and
C9orf142
(ILMN_1761138; P
SMR
= 8.09 × 10
− 9
) were the top three genes using the CAGE eQTL data, and
RP11-458F8.4
(ENSG00000273142.1; P
SMR
= 5.89 × 10
− 9
),
LCNL1
(ENSG00000214402.6; P
SMR
= 5.67 × 10
− 8
), and
PTGDS
(ENSG00000107317.7; P
SMR
= 1.92 × 10
− 7
) were the top three genes using the GTEx eQTL data. No genes showed significantly pleiotropic association with CCT in the participants of East Asian ancestry after correction for multiple testing.
Conclusion
We identified several genes pleiotropically associated with CCT, some of which represented novel genes influencing CCT. Our findings provided important leads to a better understanding of the genetic factors influencing CCT, and revealed potential therapeutic targets for the treatment of primary open-angle glaucoma and keratoconus.
Publisher
BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC
Subject
/ Analysis
/ Animal Genetics and Genomics
/ Biomedical and Life Sciences
/ Cages
/ Cornea
/ Expression quantitative trait loci
/ Genes
/ Genome-wide association studies
/ Genome-Wide Association Study
/ Genomes
/ Genomics
/ Glaucoma
/ Glaucoma, Open-Angle - genetics
/ Humans
/ Mendelian Randomization Analysis
/ Microbial Genetics and Genomics
/ Polymorphism, Single Nucleotide
/ Software
