Heath Kathleen M, Axton Jacob H, McCullough John M, Harris Nathan
Department of Earth and Environmental Systems, Indiana State University, Terre Haute, IN, 47809.
Department of Biology, Indiana State University, Terre Haute, IN, 47809.
Am J Phys Anthropol. 2016 May;160(1):86-101. doi: 10.1002/ajpa.22937. Epub 2016 Jan 22.
The C282Y allele is the major cause of hemochromatosis as a result of excessive iron absorption. The mutation arose in continental Europe no earlier than 6,000 years ago, coinciding with the arrival of the Neolithic agricultural revolution. Here we hypothesize that this new Neolithic diet, which originated in the sunny warm and dry climates of the Middle East, was carried by migrating farmers into the chilly and damp environments of Europe where iron is a critical micronutrient for effective thermoregulation. We argue that the C282Y allele was an adaptation to this novel environment.
To address our hypothesis, we compiled C282Y allele frequencies, known Neolithic sites in Europe and climatic data on temperature and rainfall for statistical analysis.
Our findings indicate that the geographic cline for C282Y frequency in Europe increases as average temperatures decrease below 16°C, a critical threshold for thermoregulation, with rainy days intensifying the trend.
The results indicate that the deleterious C282Y allele, responsible for most cases of hemochromatosis, may have evolved as a selective advantage to culture and climate during the European Neolithic.
C282Y等位基因是因铁吸收过多导致血色素沉着症的主要原因。该突变在6000年前的欧洲大陆出现，与新石器时代农业革命的到来同时发生。在此，我们假设这种起源于中东阳光充足、温暖干燥气候的新石器时代新饮食，被迁徙的农民带到了寒冷潮湿的欧洲环境中，而铁是有效调节体温的关键微量营养素。我们认为C282Y等位基因是对这种新环境的一种适应。
为验证我们的假设，我们收集了C282Y等位基因频率、欧洲已知的新石器时代遗址以及温度和降雨的气候数据进行统计分析。
我们的研究结果表明，随着欧洲平均气温降至16°C以下（体温调节的关键阈值），C282Y频率的地理梯度增加，雨天加剧了这一趋势。
结果表明，导致大多数血色素沉着症病例的有害C282Y等位基因，可能在欧洲新石器时代作为对文化和气候的一种选择优势而进化。
