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

Bello L, Kesari A, Gordish-Dressman H, Cnaan A, Morgenroth LP, Punetha J, Duong T, Henricson EK, Pegoraro E, McDonald CM, Hoffman EP, Cooperative International Neuromuscular Research Group Investigato - Ann. Neurol. (2015)

Bottom Line: Median ages at LoA were compared by Kaplan-Meier analysis and log-rank test.Cox regression confirmed a significant effect of SPP1 genotype in GC-treated participants (hazard ratio = 1.61, p = 0.016).After controlling for population stratification, we confirmed a strong effect of LTBP4 genotype in Caucasians (2.4 years, p = 0.024).

View Article: PubMed Central - PubMed

Affiliation: Children's National Medical Center, Washington, DC; Department of Neuroscience (Neurological, Psychiatric, Sensory, Reconstructive, Rehabilitative Science), University of Padua, Padua, Italy.

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Related in: MedlinePlus

Flow diagram of analysis plan and population grouping. Subgroups included in different analyses are shown, starting from the top with the whole Duchenne Natural History Study (DNHS) cohort, and in subsequent steps excluding patients with no available DNA for genotyping; subjects with no available genome-wide markers for multidimensional scaling analysis for population stratification; and subjects leading to population stratification. Thick-border boxes indicate groups selected for specific analyses. CINRG = Cooperative International Neuromuscular Research Group; GC = glucocorticoid corticosteroid; LoA = loss of ambulation; MDS = multidimensional scaling; SNP = single nucleotide polymorphism.
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fig01: Flow diagram of analysis plan and population grouping. Subgroups included in different analyses are shown, starting from the top with the whole Duchenne Natural History Study (DNHS) cohort, and in subsequent steps excluding patients with no available DNA for genotyping; subjects with no available genome-wide markers for multidimensional scaling analysis for population stratification; and subjects leading to population stratification. Thick-border boxes indicate groups selected for specific analyses. CINRG = Cooperative International Neuromuscular Research Group; GC = glucocorticoid corticosteroid; LoA = loss of ambulation; MDS = multidimensional scaling; SNP = single nucleotide polymorphism.

Mentions: A flow diagram of participant grouping, with corresponding planned analyses, participant numbers, and GC treatment rates, is shown in Figure 1.


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

Bello L, Kesari A, Gordish-Dressman H, Cnaan A, Morgenroth LP, Punetha J, Duong T, Henricson EK, Pegoraro E, McDonald CM, Hoffman EP, Cooperative International Neuromuscular Research Group Investigato - Ann. Neurol. (2015)

Flow diagram of analysis plan and population grouping. Subgroups included in different analyses are shown, starting from the top with the whole Duchenne Natural History Study (DNHS) cohort, and in subsequent steps excluding patients with no available DNA for genotyping; subjects with no available genome-wide markers for multidimensional scaling analysis for population stratification; and subjects leading to population stratification. Thick-border boxes indicate groups selected for specific analyses. CINRG = Cooperative International Neuromuscular Research Group; GC = glucocorticoid corticosteroid; LoA = loss of ambulation; MDS = multidimensional scaling; SNP = single nucleotide polymorphism.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4403971&req=5

fig01: Flow diagram of analysis plan and population grouping. Subgroups included in different analyses are shown, starting from the top with the whole Duchenne Natural History Study (DNHS) cohort, and in subsequent steps excluding patients with no available DNA for genotyping; subjects with no available genome-wide markers for multidimensional scaling analysis for population stratification; and subjects leading to population stratification. Thick-border boxes indicate groups selected for specific analyses. CINRG = Cooperative International Neuromuscular Research Group; GC = glucocorticoid corticosteroid; LoA = loss of ambulation; MDS = multidimensional scaling; SNP = single nucleotide polymorphism.
Mentions: A flow diagram of participant grouping, with corresponding planned analyses, participant numbers, and GC treatment rates, is shown in Figure 1.

Bottom Line: Median ages at LoA were compared by Kaplan-Meier analysis and log-rank test.Cox regression confirmed a significant effect of SPP1 genotype in GC-treated participants (hazard ratio = 1.61, p = 0.016).After controlling for population stratification, we confirmed a strong effect of LTBP4 genotype in Caucasians (2.4 years, p = 0.024).

View Article: PubMed Central - PubMed

Affiliation: Children's National Medical Center, Washington, DC; Department of Neuroscience (Neurological, Psychiatric, Sensory, Reconstructive, Rehabilitative Science), University of Padua, Padua, Italy.

Show MeSH
Related in: MedlinePlus