Thursday, February 11, 2010

Inuk and me

In The Spittoon, 23andme’s blog, we are given the opportunity to compare some of our SNPs with those of Inuk, the man from 4000 years ago in Greenland who today officially became the first ancient human to have his genome almost completely sequenced (you can read here the article I published today in my newspaper, PÚBLICO - and if you don't read Portuguese you can read the Spittoon's post). I went and compared. Cool!

Image: Inuk by Nuka Godfredsen/Nature

Monday, February 1, 2010

Cancer risks revisited

The Spitton, 23andme’s blog, mentions a paper in Nature Genetics by Gloria Petersen from Mayo Clinic and colleagues which pinpoints several locations in the genome which may me associated with higher risks of developing pancreatic cancer – maybe the most lethal of all cancers.

Randy Pausch (photo), the computer scientist at Carnegie-Mellon U., died of it a year and a half ago. (Remember his famous and moving “Last Lecture”?)

I went and tried to evaluate my own risk by following the instructions in that post, which consist in looking at my raw genetic data from 23andme at the following SNPs (or point mutations): rs9543325 (on chromosome 13), rs3790844 (on chromosome 1) and rs401681 (on chromosome 5).

The results are not clear-cut.

At rs9543325, my genetic make-up (CT) corresponds, according to the study in Nature Genetics, to 1.23 times higher odds to get one day this type of cancer than if it were the most common one (TT).

At rs3790844, I’m AG e that lower my odss (it multiplies the typical odds by 0.75);

And at rs401681, I’m CC, which means typical odds – lower in particular, than those of ao people who are CT ou TT at this location, and who might also have higher odds, according to previous studies, of contracting melanoma and colorectal cancer.

But even this last SNP, in spite of my genetic configuration apparently being the best possible one, is a two-sided coin, since having one or two C’s in this position has been associated, also in previous studies, to higher odds of getting other types of cancer: basal cell carcinoma (a type of "benign" skin cancer, I had one removed last year, thank you very much), as well as lung, bladder, prostate (which doesn’t concern me), cervical and endometrial (lining of the uterus) cancer.


(Image: all rights reserved)