However, due to the limited clinical and functional data on these variants, the biological significance of these findings is still unknown, and further studies will be required to determine the pathogenic activity of these alleles.
Clearly, an easy-to-use free interface to the existing data on the identified variants would be in the interest of general public and professionals less familiar with the field.
All the originally contacted investigators of cancer-related GWA studies agreed to participate in this collaborative analysis, with the exception of the investigators of 3 GWA studies [14], [15], [16] (1 on breast cancer, 1 on colorectal cancer and 1 on neuroblastoma), 1 of which had no data on the requested variants, as they had used a Affymetrix platform[15].
Only a minority of studies have reported case control data on the same variants, allowing pooling of data (Table 1).
They provided new positive data on the LRRK2 variants in Asian (Chinese, Taiwanese, Japanese, Singaporean, and Korean) populations.
However, it may be hard to find a suitable study population with sufficient data on the genetic variants, and both the risk factor and outcome of interest.
The crystal structure and the kinetic properties of the rs8192708G variant (V267) in human cytosolic PEPCK are available [31], [32], but in vitro data on the isoleucine variant (I267) in human cytosolic PEPCK has not been described.
As far as our present data on the Q121 variant is concerned, it is of note they are quite consistent with previous findings obtained in vivo.
