In humans the 5-HTT is encoded by the gene SLC6A4, which carries several polymorphisms in its promoter region (5-HTTLPR, 5-HTT linked polymorphic region) affecting transcription of the gene.
These characteristics are of particular relevance, especially in the genetic analysis of multifactorial diseases, such as headache and epilepsy, which requires a large number of subjects and very often involves the analysis of several polymorphisms in the same patients.
Moreover, it has been described several polymorphisms in the gene encoding human sEH that encode variants with altered catalytic activity.
Indeed, several polymorphisms in the sequence of D. melanogaster H1 are recorded in the DNA and protein databases.
In regression analyses, the genotypes of several polymorphisms in the CEP68 gene were also significantly associated with the decline of FEV1 by aspirin provocation.
The traditional screening approaches (RFLP, SSCP) for genotyping mtSNPs are now being replaced by lower cost mini-sequencing techniques that allow multiplexing several polymorphisms in single reactions [22], [23], [24], [25].
Consistent with its essential role in vitamin D mediated effects on breast cancer, several polymorphisms in the VDR gene have been identified and their possible significance in breast cancer has been inconclusively assessed in epidemiological investigations across multi-ethnic groups [6], [7].
Several polymorphisms in TP53 have been studied in MDS.
Indeed several polymorphisms in the CXCL5 gene have been described.
There are several polymorphisms in the ERCC1 gene.
Several polymorphisms in the APOBEC3G gene have also been described.
