Journal article

Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study.

Luca Bello, Akanchha Kesari, Heather Gordish-Dressman, Avital Cnaan, Lauren P Morgenroth, Jaya Punetha, Tina Duong, Erik K Henricson, Elena Pegoraro, Craig M McDonald, Eric P Hoffman, undefined Cooperative International Neuromuscular Research Group Investigators

Ann Neurol | Published : 2015

Abstract

OBJECTIVE: We studied the effects of LTBP4 and SPP1 polymorphisms on age at loss of ambulation (LoA) in a multiethnic Duchenne muscular dystrophy (DMD) cohort. METHODS: We genotyped SPP1 rs28357094 and LTBP4 haplotype in 283 of 340 participants in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study (CINRG-DNHS). Median ages at LoA were compared by Kaplan-Meier analysis and log-rank test. We controlled polymorphism analyses for concurrent effects of glucocorticoid corticosteroid (GC) treatment (time-varying Cox regression) and for population stratification (multidimensional scaling of genome-wide markers). RESULTS: Hispanic and South Asian participants (n..

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University of Melbourne Researchers