% pubman genre = article @article{item_3516960, title = {{Major genetic risk factors for Dupuytren{\textquotesingle}s disease are inherited from Neandertals}}, author = {{\AA}gren, Richard and Patil, Snehal and Zhou, Xiang and Sahlholm, Kristoffer and P{\"a}{\"a}bo, Svante and Zeberg, Hugo}, language = {eng}, issn = {1537-1719}, doi = {10.1093/molbev/msad130}, year = {2023}, date = {2023-07}, abstract = {{Dupuytren{\textquotesingle}s disease is characterized by fingers becoming permanently bent in a flexed position. Whereas people of African ancestry are rarely afflicted by Dupuytren{\textquotesingle}s disease, up to $\sim$30\{\textpercent} of men over 60 years suffer from this condition in northern Europe. Here, we meta-analyze 3 biobanks comprising 7,871 cases and 645,880 controls and find 61 genome-wide significant variants associated with Dupuytren{\textquotesingle}s disease. We show that 3 of the 61 loci harbor alleles of Neandertal origin, including the second and third most strongly associated ones (P {\textequals} 6.4 $\times$ 10{\textminus}132 and P {\textequals} 9.2 $\times$ 10{\textminus}69, respectively). For the most strongly associated Neandertal variant, we identify EPDR1 as the causal gene. Dupuytren{\textquotesingle}s disease is an example of how admixture with Neandertals has shaped regional differences in disease prevalence.}}, journal = {{Molecular Biology and Evolution}}, volume = {40}, number = {6}, eid = {msad130}, }