LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy.

ABSTRACT:

Objective

Duchenne muscular dystrophy (DMD) displays a clinical range that is not fully explained by the primary DMD mutations. Ltbp4, encoding latent transforming growth factor-β binding protein 4, was previously discovered in a genome-wide scan as a modifier of murine muscular dystrophy. We sought to determine whether LTBP4 genotype influenced DMD severity in a large patient cohort.

Methods

We analyzed nonsynonymous single nucleotide polymorphisms (SNPs) from human LTBP4 in 254 nonambulatory subjects with known DMD mutations. These SNPs, V194I, T787A, T820A, and T1140M, form the VTTT and IAAM LTBP4 haplotypes.

Results

Individuals homozygous for the IAAM LTBP4 haplotype remained ambulatory significantly longer than those heterozygous or homozygous for the VTTT haplot

SUBMITTER: Flanigan KM 

PROVIDER: S-EPMC4106425 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature