A 17q12 allele is associated with altered NK cell subsets and function.

ABSTRACT: NK cells play an important role in innate immunity. A previous genome-wide association study demonstrated an association between a 17q12 allele (rs9916629(C)) and lower frequency of CD3(-)CD56(+) NK cells in peripheral blood. We performed an analysis that not only replicates the original result of the genome-wide association study (p = 0.036) but also defines the specific cell subpopulations and functions that are modulated by the rs9916629 polymorphism in a cohort of 96 healthy adult subjects using targeted multiparameter flow cytometric profiling of NK cell phenotypes and functions. We found that rs9916629(C) is associated with alterations in specific NK cell subsets, including lower frequency of predominantly cytotoxic CD56(dim) NK cells (p = 0.011), higher frequency of predominantly re

SUBMITTER: Xia Z 

PROVIDER: S-EPMC9444297 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature