Genotyping single nucleotide polymorphisms for allele-selective therapy in Huntington disease.

ABSTRACT:

Background

The huntingtin gene (HTT) pathogenic cytosine-adenine-guanine (CAG) repeat expansion responsible for Huntington disease (HD) is phased with single nucleotide polymorphisms (SNPs), providing targets for allele-selective treatments.

Objective

This prospective observational study defined the frequency at which rs362307 (SNP1) or rs362331 (SNP2) was found on the same allele with pathogenic CAG expansions.

Methods

Across 7 US sites, 202 individuals with HD provided blood samples that were processed centrally to determine the number and size of CAG repeats, presence and heterozygosity of SNPs, and whether SNPs were present on the mutant HTT allele using long-read sequencing and phasing.

Results

Heterozygosity of SNP1 and/or SNP2 was identifie

SUBMITTER: Claassen DO 

PROVIDER: S-EPMC7249892 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature