HPM

HPM maps genes and identifies disease-associated haplotypes from case-control haplotype data to locate genetic loci underlying complex diseases such as asthma.

Key Features:

• Hierarchical Genotyping Design: Employs a hierarchical genotyping approach to narrow large genomic regions to smaller segments, exemplified by identification of a 133-kilobase segment on chromosome 7p associated with asthma susceptibility.
• Haplotype Analysis: Analyzes case-control haplotype data to detect SNP-tagged haplotypes linked to phenotypic traits, including haplotypes correlated with high serum immunoglobulin E levels and asthma incidence.
• Gene Identification: Analyzes genetic variation to pinpoint candidate genes, exemplified by the identification of GPRA (G protein-coupled receptor for asthma susceptibility) as implicated in asthma.

Scientific Applications:

• Disease Susceptibility Research: Maps genes and haplotypes contributing to complex disease susceptibility, applied to conditions such as asthma.
• Pathogenesis Insights: Provides molecular insights into disease mechanisms, for example implicating GPRA and its distinct protein isoform distribution in atopy and asthma pathogenesis.
• Multi-cohort Genetic Validation: Supports validation of genetic associations across diverse cohorts, including studies of populations from Finland and Canada.
• Translational Research: Facilitates linkage of human genetic findings to experimental systems by identifying genes up-regulated in animal models relevant to disease.

Methodology:

Uses a hierarchical genotyping approach and haplotype analysis to detect SNP-tagged haplotypes and analyze genetic variation for gene mapping.