Asthma heterogeneity: the increasing genetic evidence

Evidence for further genetic heterogeneity in nephronophthisis.

BACKGROUND A new type of nephronophthisis (NPH) has been recently identified in a large Venezuelan kindred: adolescent nephronophthisis (NPH3) causes end-stage renal disease (ESRD) at a median age of 19 years. The responsible gene (NPHP3) maps to 3q21-q22. NPH3 shares with juvenile nephronophthisis (NPH1) the same disease manifestations such as polyuria, polydipsia, and secondary enuresis. Hist...

Evidence of genetic heterogeneity in Huntington's chorea.

In an extensive study of Huntington's chorea in Queensland evidence was found to support an old observation that the magnitude of the variation in the symptom complex of the disease between different families is sufficient to suggest that there may be more than one form of Huntington's chorea allele present in the community. Analysis of data concerning age at onset indicates that at least two s...

Evidence for genetic heterogeneity in tuberous sclerosis.

The question of genetic heterogeneity in tuberous sclerosis (TSC) was addressed by genetic linkage studies in eight affected families using nine polymorphic markers (EFD126.3, MCT136, ABO, ABL, AK1, and MCOA12 from distal 9q, and PBGD, MCT128.1, and 1CJ52.208M from distal 11q). The data as a whole supported a TSC locus on distal 9q, the peak lod score on multipoint analysis being 3.77 at 6 cM p...

Genetic heterogeneity of asthma phenotypes identified by a clustering approach.

The aim of the study was to identify genetic variants associated with refined asthma phenotypes enabling multiple features of the disease to be taken into account. Latent class analysis (LCA) was applied in 3001 adults ever having asthma recruited in the frame of three epidemiological surveys (the European Community Respiratory Health Survey (ECRHS), the Swiss Study on Air Pollution and Lung Di...

Evidence of genetic heterogeneity in the long QT syndrome.