Article
Genetic modifiers of Hb E/beta0 thalassemia identified by a two-stage genome-wide association study.
BMC medical genetics - 30 Mar 2010
Sherva Richard, Sripichai Orapan, Abel Kenneth, Ma Qianli, Whitacre Johanna, Angkachatchai Vach, Makarasara Wattanan, Winichagoon Pranee, Svasti Saovaros, Fucharoen Suthat, Braun Andreas, Farrer Lindsay A
Abstract excerpt
BACKGROUND: Patients with Hb E/beta0 thalassemia display remarkable variability in disease severity. To identify genetic modifiers influencing disease severity, we conducted a two-stage genome scan in groups of 207 mild and 305 severe unrelated patients from Thailand with Hb E/beta0 thalassemia and normal alpha-globin genes. METHODS: First, we estimated and compared the allele frequencies of approximately 110,000...
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