Friday, February 18, 2011

Greek DNA and Arnaiz-Villena's Pseudoscience

Objectivity is one of the most important values that a scientific study should abide to and an academic researcher should follow. On the contrary, prejudice can often elude the design of a research study, the interpretation of the findings and may stigmatize a researcher's reputation in the scientific community. The motifs behind prejudice in science can be personal, financial or, even worse, political.

In 2001, Arnaiz-Villena and coworkers published a series of scientific articles, where, among other claims, he concluded that the Hellenic (Greek) population stems from sub-Saharan Africa. These authors have used a questionable experimental approach with too few genetic markers from the DRB1 HLA gene, to show that the Hellenic population, rather than belonging to the "older" Mediterranean populations, are genetically closer to sub-Saharan populations, namely Ethiopian and western Africans. These authors interpreted their findings by claiming that some sub-Saharan populations had migrated to Greece during antiquity, but not to Crete.
Unfortunately, the study conducted by Arnaiz-Villena and coworkers has a number of serious flaws.

First of all, they based their study on very few genetic markers to reach scientifically sound conclusions on the genetic distance of human populations. Several studies, using multiple genetic markers are available in the literature, indicating that the Hellenic population is genetically closer to the rest of the European populations, while in no single study the results from the Arnaiz-Villena and coworkers study have ever been reproduced. Proper population genetics studies should employ between 20-100 autosomal genetic markers, many Y-chromosomal markers as well as markers from mitochondrial DNA.
Also, studies pertaining to the genetic heterogeneity of inherited disorders, e.g. β-thalassemia, cystic fibrosis, documented in the FINDbase worldwide database of genetic variants allele frequencies indicate that the mutational spectrum of common disorders in European populations is more closely related to each other than to sub-Saharan populations.
Furthermore, not only had Arnaiz-Villena and coworkers misused the genetic approach but also falsified historical perspectives to base their hypothesis. Their conclusions suffer from misquotations of scientific and historical citations as well as inaccurate statements without any historical and ancient documentation. The misquotation of Herodotus by these authors is notable and really unfortunate.
As a result, the Arnaiz-Villena and coworkers study was totally discredited by the scientific community to the extent that is used as a textbook definition of subjective and arbitrary interpretation of study results and it is not surprising that this study has finally retracted from the scientific literature. From an editorial perspective, such offense is even graver than plagiarism, since it attempts to elude and to falsely create a wrong impression to the scientific community.
Overall, this example clearly shows that the scientific community critically stands against such efforts to intentionally falsify history, to abuse scientific methodology and to subjectively interpret experimental results. Such studies should be immediately retracted from the scientific literature not only to protect science from misuse but also to discourage similar attempts in the future.

George P. Patrinos
Assistant Professor of Pharmacogenomics, University of Patras,
School of Health Sciences, Department of Pharmacy, Patras, Greece;

Communicating editor, Human Mutation;

Genetics Studies in the Greek Population vs Pseudoscience
Detailed Analysis of the Genetic Results for the Greek Population

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