- Relative to U.S. demographics, the 98.4% whites of European descent in Regeneron’s Pennsylvania study are more similar to, than different from, the “whites of Danish descent” in the Danish studies.
Now Regeneron funds a study here in the USA. This is a chance to confirm the relevance of the FH population studies performed in Denmark and The Netherlands and quell suspicions that strong and intermediate influences of founder effect were at play. They only needed to target a broader, more representative demographic.
So where does Regeneron perform the study? In Pennsylvania, enveloping a region with the highest APOB founder effect in the world, and somehow managing to test 98.4% whites of European descent.
“This was suggestive of a single mutation transmitted from a common ancestor through the population, with endogamy and genetic drift accounting for its high frequency in the Amish. A prevalence of 1 in 8–9 participants, the highest frequency for APOB p.Arg3527Gln yet recorded, coupled with a strong association with both LDL-cholesterol levels and coronary artery calcification scores, establishes a clear case for the benefits of community screening. ~” Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution Khemanganee E. Liyanage, et al. [Emphasis mine.] See also this page.
Questions: Was this an accident? Did the researchers specifically choose regions which did not represent a broader demographic? Or, were non-whites simply selected out of the study? I ask because the raw database begins with 3% Black/African American, but the selection procedure reduced the representation to 1% for the study, while at the same time increasing the White representation from 93% to 98%. This will necessarily influence the APOB count due to the over presence of the White population, which the authors said were mostly of European descent.
With disclaimers secured in the report, the PR nonetheless blatantly claims an increase of prevalence in the general population, but this was actually a study narrowed to a group of white European descendants.
“Results of the new study found many undiagnosed cases of FH and helped to define the extent of FH in the general population and the extent to which it is systematically undertreated.” ~ Press release: Geisinger and Regeneron study finds life-threatening genetic disorder is substantially underdiagnosed; Dec. 22, 2016
So any good explanation for the exclusion of non-whites nonetheless begs the question, why wouldn’t researchers ensure a demographic representative of the whole USA?