Data Access Commitee Polymorphisms in the Mitochondrial Genome associated with Bullous Pemphigoid in Germans

Dac ID Contact Person Email Access Information
EGAC00001001341 Prof. Dr. Saleh M. Ibrahim saleh [dot] ibrahim [at] uksh [dot] de No additional information is available

This DAC controls 1 dataset:

Dataset ID Description Technology Samples
EGAD00001005379 This study is the first to interrogate the whole mtDNA in BP patients and controls and to implicate multiple novel mtDNA variants in disease susceptibility. Whole mtDNA of German BP patients (n=180) and age- and sex-matched healthy controls (n=188) were sequenced using next generation sequencing (NGS) technology, followed by the replication study using Sanger sequencing of an additional independent BP (n=89) and control cohort (n=104). While the BP and control groups showed comparable mitochondrial haplogroup distributions, the haplogroup T exhibited a tendency of higher frequency in BP patients suffering from neurodegenerative diseases (ND) compared to BP patients without ND (p= 0.1448, Fisher’s exact test) Illumina MiSeq 368