Recurrent Rare Copy Number Variants Increase Risk for Esotropia.

ABSTRACT:

Purpose

To determine whether rare copy number variants (CNVs) increase risk for comitant esotropia.

Methods

CNVs were identified in 1614 Caucasian individuals with comitant esotropia and 3922 Caucasian controls from Illumina SNP genotyping using two Hidden Markov model (HMM) algorithms, PennCNV and QuantiSNP, which call CNVs based on logR ratio and B allele frequency. Deletions and duplications greater than 10 kb were included. Common CNVs were excluded. Association testing was performed with 1 million permutations in PLINK. Significant CNVs were confirmed with digital droplet polymerase chain reaction (ddPCR). Whole genome sequencing was performed to determine insertion location and breakpoints.

Results

Esotropia patients have similar rates and proportions of CNVs co

SUBMITTER: Whitman MC 

PROVIDER: S-EPMC7443120 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature