Common Variant Associations with Fragile X Syndrome

Abstract excerpt

Fragile X syndrome is a common cause of intellectual disability. It is usually caused by a de novo mutation which often occur on multiple haplotypes and should not be detectible using genome-wide association (GWA). We conducted GWA 89 male FXS cases and 266 male controls, and detected multiple genome-wide significant signals near FMR1 (odds ratio=8.10, P=2.5×10 −10 ). These findings withstood robust attempts at f...

Topics

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• Algorithms
• Fragile X Mental Retardation Protein
• Fragile X Syndrome
• Mutation
• Polymorphism, Single Nucleotide
• RNA Splicing
• Siblings
• Trinucleotide Repeats

Identifiers and source

Literature Corpus work

5a3c7298-bdad-5570-b1c1-3a947d3bcdb2

DOI

10.1101/115998