Next-generation sequencing profiling of mitochondrial genomes in gout.

ABSTRACT:

Background

Accumulating evidence implicates mitochondrial DNA (mtDNA) alleles, which are independent of the nuclear genome, in disease, especially in human metabolic diseases. However, this area of investigation has lagged behind in researching the nuclear alleles in complex traits, for example, in gout.

Methods

Next-generation sequencing was utilized to investigate the relationship between mtDNA alleles and phenotypic variations in 52 male patients with gout and 104 age-matched male non-gout controls from the Taiwan Biobank whole-genome sequencing samples. Differences from a reference sequence (GRCh38) were identified. The sequence kernel association test (SKAT) was applied to identify gout-associated alleles in mitochondrial genes. The tools Polymorphism Phenotyping, Sorti

SUBMITTER: Tseng CC 

PROVIDER: S-EPMC6034246 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature