mtDNA 15497 G/A Polymorphism

A recent paper from Liquori et al., The mtDNA 15497 G/A polymorphism in cytochrome b in severe obese subjects from Southern Italy, looked at

whether the 15497 G/A mtDNA polymorphism (G251S) in the cytochrome b subunit of respiratory complex III, which has been associated with obesity-related variables and lipid metabolism in a Japanese population, is associated with severe obesity also in adult Caucasians from southern Italy.

15497 is a SNP that would be revealed in a full mtDNA sequence, not the more common HVR1 or HVR2 tests done for genealogical purposes. The G>A mutation had been associated with severe obesity, but his study found very weak support for a relationship.

The Liquori study concluded:

The mtDNA 15497 G/A polymorphism in cytochrome b was present in 0.6% obese subjects, two females whose lipid parameters and BMI were similar to those of the overall group. Therefore, this mutation may appear to contribute in rare instances to severe obesity but does not explain the majority of cases in our population. A more extensive genetic haplogroup characterization is required to identify associations to obesity in Caucasians.