Single-Nucleotide Polymorphism of the MLX Gene Is Associated With Takayasu Arteritis.

ABSTRACT:

Background

Takayasu arteritis (TAK) is an autoimmune systemic arteritis of unknown pathogenesis. Genome-wide association studies revealed that single-nucleotide polymorphisms in the MLX gene encoding the MLX (Max-like protein X) transcription factor are significantly associated with TAK in Japanese patients. MLX single-nucleotide polymorphism rs665268 is a missense mutation causing the Q139R substitution in the DNA-binding site of MLX.

Methods

To elucidate the hypothesis that the single-nucleotide polymorphism of the MLX gene plays a critical role in the development of TAK, we conducted clinical and laboratory analyses.

Results

We show that rs665268 significantly correlated with the severity of TAK, including the number of arterial lesions and morbidity of aortic regu

SUBMITTER: Tamura N 

PROVIDER: S-EPMC6522131 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature