New Genetic Insights from Autoimmune Thyroid Disease

Table 1

Methods of genetic analysis.

(A) Linkage analysis
This is based on the principle that the chance for a recombination event between 2 loci (i.e., a marker, such as the candidate gene, and the true disease gene) is proportional to the chromosomal distance between them. Therefore, if a marker is close to a disease susceptibility gene, this marker will cosegregate with the disease in families.
The logarithm of odds (LOD) score is a measure of the evidence for or against linkage between a marker and a trait or disease [13]. LOD score analysis has had important advantages for the study of AITD because it has allowed a way to test for the presence of heterogeneity within the data set and allowed deduction of the mode of inheritance and the degree of penetrance from the linkage data.
Linkage studies are highly specific but have been clearly shown not to be highly sensitive.
(B) Association studies
These studies simply compare the presence of a disease marker (such as the candidate gene) in the disease population with the presence of the marker in a control population without the disease.
Here, the difficulty may lie in the appropriate control population, which needs to be comparable and large.
If this difficulty is overcome, association studies can reveal a genetic influence, and with large patient groups, this type of study can be highly sensitive.