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Endometriosis Research Study Newsletter  |  Summer 2014

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    GENE-ius Diaries




Dear Diary,


Diversity abounds in the human race. How did this happen, and how does this affect endometriosis research?


If humans had always lived together in one large group, we would be a much less diverse lot. The variations in our genes would be spread evenly throughout the whole population. Perhaps our appearance would be a kind of average of everyone currently on Earth. The chance of having a particular disease would be about the same all over the world.


But of course we have not lived in one large group. Modern humans (Homo sapiens) evolved roughly 200,000 years ago in Africa. Using DNA, scientists have been able to trace major migration paths out of Africa, and estimate how long ago different groups separated. Perhaps 80,000 years ago human groups left Africa, some going into Europe and others into Asia, and on from there.


Genetic differences between the separate groups increased more and more the longer they were apart. Over 80,000 years, that could be a lot! The main factors leading to the differences, AKA the genetic diversity, were (1) random chance and (2) selective pressure. Some groups that broke off had more of certain genes just by chance. Of course those genes were passed on. Some groups moved into an environment where certain genes offered better survival chances. Those genes were under “positive selective pressure,” and increased in that population. Likewise, the unlucky genes under “negative selective pressure” decreased.


Given those 80,000 years, there are bound to be some differences in endometriosis in different groups. Although we know endometriosis is common throughout the world, we don’t really know exactly how common in each race or country. Furthermore, it is likely that “endometriosis” is actually different diseases. Perhaps endometriosis is usually caused by “pathway ABC” in northern Asians, but “pathway XYZ” in southern Asians. We just don’t know, because we haven’t even found those pathways yet.


All this diversity poses problems for endometriosis genetics research. With the 3 billion “base pairs” (molecule pairs) that make up human DNA, just think of all the differences there could be! When you’re looking for differences leading to endometriosis, you have to sort out all the other differences that have nothing to do with endometriosis. It is much easier, much more accurate, when you compare “apples to apples.” The best way is to get a bunch of women as genetically similar as possible, then look within that group for differences between women who have and don’t have endometriosis.


Nature magazine carried an article last July, “Genomics for the World.” It pointed out that medical genetics/genomics research has been almost entirely in people of European descent. Better recruitment of other ethnic populations would substantially improve all genetics research. Better reference data from different ancestries would help scientists separate out true associations from false ones. The authors summarized, “Those most in need must not be the last to benefit from genetic research.”


End to Endo has participants from all over the world, from every continent (except Antarctica  ). But we do not have enough! We need, and will continue to need, more women from every race, from every ethnic group, from every geographical area to do the best job of finding endometriosis genes. We’ll keep reaching out as far as we can. I hope our participants also reach out to their ethnically diverse friends, and get them on board!


Til next time –