Identification of functional missense single-nucleotide polymorphisms in TNFAIP3 in a predominantly Hispanic population.

ABSTRACT:

Background

Tumor necrosis factor alpha-induced protein 3 (TNFAIP3) is a multifunctional ubiquitin binding and editing enzyme that regulates inflammation. Genetic studies have implicated polymorphisms within the TNFAIP3 locus to the development of numerous immune-related diseases. This study evaluated the frequencies of single nucleotide polymorphism (SNPs) within the exonic regions of the TNFAIP3 gene and an associated point mutation from the Illumina array among a predominantly Hispanic cohort.

Methods

Genomic DNA was obtained from 721 participants and sequencing of all TNFAIP3 exons and an intergenic point mutation (rs6920220) was performed. In vitro functional assessment was performed by transfecting mutated TNFAIP3 constructs int

SUBMITTER: Zhang B 

PROVIDER: S-EPMC6530917 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature