Identification of PCDH1 as a novel susceptibility gene for bronchial hyperresponsiveness.

ABSTRACT:

Rationale

Asthma is a chronic inflammatory airway disease that affects more than 300 million individuals worldwide. Asthma is caused by interaction of genetic and environmental factors. Bronchial hyperresponsiveness (BHR) is a hallmark of asthma and results from increased sensitivity of the airways to physical or chemical stimulants. BHR and asthma are linked to chromosome 5q31-q33.

Objectives

To identify a gene for BHR on chromosome 5q31-q33.

Methods

In 200 Dutch families with asthma, linkage analysis and fine mapping were performed, and the Protocadherin 1 gene (PCDH1) was identified. PCDH1 was resequenced in 96 subjects from ethnically diverse populations to identify novel sequence variants. Subsequent replication studies were undertaken in seven populations from T

SUBMITTER: Koppelman GH 

PROVIDER: S-EPMC2778155 | biostudies-literature | 2009 Nov

REPOSITORIES: biostudies-literature