Because telomeres are critical to chromosomal stability, the genes that code for proteins integral in telomere biology may be important in cancer etiology. DCEG investigators in the Clinical Genetics Branch (CGB) have shown that nucleotide diversity in genes coding for critical proteins in the telomere maintenance pathway is limited when compared with other types of genes. They are also highly conserved between species. Because these genes appear to be under evolutionary constraint, it is possible that germline genetic variation (i.e., single nucleotide polymorphisms (SNPs) in these genes could be a significant risk factor for cancer or other diseases.
Detailed population genetic studies of telomere biology genes in worldwide populations are underway. Several studies have been conducted by CGB investigators that found SNPs in telomere biology genes are associated with risk of certain cancers. SNPs have also been evaluated as regulators of telomere length through candidate gene and genome-wide association studies. Ongoing studies include fine mapping of candidate loci and studies of telomere measurement methods.
For more information, contact Sharon Savage.