Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.

ABSTRACT:

Background

A substantial fraction of familial colorectal cancer (CRC) and polyposis heritability remains unexplained. This study aimed to identify predisposing loci in patients with these disorders.

Methods

Homozygosity mapping was performed using 222 563 SNPs in 302 index patients with various colorectal neoplasms and 3367 controls. Linkage analysis, exome and whole-genome sequencing were performed in a family affected by microsatellite stable CRCs. Candidate variants were genotyped in 10 554 cases and 21 480 controls. Gene expression was assessed at the mRNA and protein level.

Results

Homozygosity mapping revealed a disease-associated region at 1q32.3 which was part of the linkage region 1q32.2-42.2 identified in the CRC family. This includes a region previously ass

SUBMITTER: Schubert SA 

PROVIDER: S-EPMC5589990 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature