Genome-wide association study of cafe-au-lait macule number in neurofibromatosis type 1.

ABSTRACT:

Background

Neurofibromatosis type 1 (NF1) is a tumor-predisposition disorder that arises due to pathogenic variants in tumor suppressor NF1. NF1 has variable expressivity that may be due, at least in part, from heritable elements such as modifier genes; however, few genetic modifiers have been identified to date.

Methods

In this study, we performed a genome-wide association analysis of the number of café-au-lait macules (CALM) that are considered a tumor-like trait as a clinical phenotype modifying NF1.

Results

A borderline genome-wide significant association was identified in the discovery cohort (CALM1, N = 112) between CALM number and rs12190451 (and rs3799603, r²  = 1.0; p = 7.4 × 10^-8 ) in the intronic region of RPS6KA2. Although, this assoc

SUBMITTER: Sung H 

PROVIDER: S-EPMC7549607 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature