Four New Gene Variants Linked to Myeloma

August 22, 2013

Researchers in London have identified a number of new genetic variants that are linked to myeloma, and one specifically linked to a telomerase RNA component gene called TERC, that helps to control the aging process by acting as a cell’s internal clock.

Researchers in London have identified a number of new genetic variants that are linked to myeloma, and one specifically linked to a telomerase RNA component gene called TERC, that helps to control the aging process by acting as a cell’s internal clock.

With this discovery, the researchers, co-led by Richard Houlston, MD, PhD, professor of molecular and population genetics at the Institute of Cancer Research, United Kingdom, have increased the number of gene variants linked to myeloma from three to seven. 

“Our study has taken an important step forward in understanding the genetics of myeloma, and suggested an intriguing potential link with a gene that acts as a cell’s internal timer,” Houlston said in a press release.

Houlston and colleagues conducted a genome-wide association study with validation in 4,692 patients with myeloma and compared their DNA with that of 10,990 controls. Based on this data, the researchers derived odds ratio for each single nucleotide polymorphism that may have been associated with myeloma. The research was published in Nature Genetics.

The initial study identified 9 SNPs as having a likely association with myeloma. In the validation study, four of these SNPs remained significant for their association with myeloma: 3q26.2 (P = 8.70 × 10−14), 6p21.33 (P = 9.67 × 10−11), 17p11.2 (P = 7.67 × 10−9), and 22q13.1 (P = 7.63 × 10−16).

3q26.2 is the genetic marker linked to TERC, which regulates the length of the telomere ‘caps’ on the ends of DNA. In healthy cells, these caps erode over time-causing tissues to age-but some cancer cells seem able to ignore the aging trigger in order to keep on dividing.

“We know cancer often seems to ignore the usual controls over aging and cell death, and it will be fascinating to explore whether in blood cancers that is a result of a direct genetic link,” Houlston said. “Eventually, understanding the complex genetics of blood cancers should allow us to assess a person’s risk or identify new avenues for treatment.”

Overall, the researchers estimated that the seven loci identified to date only account for about 13% of familial risk of multiple myeloma.