Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus.

ABSTRACT:

Purpose

Keratoconus is a progressive disorder of the cornea that can lead to severe visual impairment or blindness. Although several genomic regions have been linked to rare familial forms of keratoconus, no genes have yet been definitively identified for common forms of the disease.

Methods

Two genome-wide association scans were undertaken in parallel. The first used pooled DNA from an Australian cohort, followed by typing of top-ranked single-nucleotide polymorphisms (SNPs) in individual DNA samples. The second was conducted in individually genotyped patients, and controls from the USA. Tag SNPs around the hepatocyte growth factor (HGF) gene were typed in three additional replication cohorts. Serum levels of HGF protein in normal individuals were assessed with ELISA and co

SUBMITTER: Burdon KP 

PROVIDER: S-EPMC3208191 | biostudies-literature | 2011 Oct

REPOSITORIES: biostudies-literature