Faculty of Dental Medicine and Health Osijek, Crkvena 21, HR-31000 Osijek, Croatia; Polyclinic Aviva, Nemetova 2, Zagreb, Croatia.
Med Hypotheses. 2019 Jan;122:134-138. doi: 10.1016/j.mehy.2018.11.006. Epub 2018 Nov 20.
Cystic fibrosis, hereditary hemochromatosis and palmar fibromatosis are often described as "Celtic", based on their contemporary prevalence. The former two are among genetically defined disorders that seem to provide survival advantages to heterozygote individuals, while severe health problems happen in homozygote mutation carriers. Although palmar fibromatosis has no defined mutations, its prevalence has been linked to the prevalence of Y-Chromosome Haplogroup I that expanded after the Last Ice Age, thus making th distribution of all three "Celtic" diseases dependent on the global climate from 40 to 8 Kya. During the Last Ice Age, the global climate was dry and dark due to dust-laden atmosphere (20-25 times more than today). It has been postulated that skin pigmentation was related to insolation, UV protection and skin synthesis of vitamin D, so when our ancestors moved to Eurasia, individuals with pale skin became advantageous. Deficiency of vitamin D has several health consequences and some of them have been proposed by other authors as important for the spreading of cystic fibrosis mutations: rickets/osteomalacia; susceptibility to diarrheal diseases and tuberculosis and salt induced arterial hypertension. The here proposed link is between vitamin D deficiency and the anaemia of chronic disease that might have facilitated spreading of the hemochromatosis mutation. It seems plausible that the risk of health problems in the offspring of close relatives might have resulted in social taboos of consanguinity in Eurasian protosocieties. Ancient steam bath rituals seem linked to lower incidences of cystic fibrosis in several European populations, thus suggesting health protection in an arid, dusty climate of the last glaciation, that made CFTR mutations in heterozygote carriers less advantageous.
囊性纤维化、遗传性血色病和手掌纤维瘤病常被描述为“凯尔特人”,这是基于它们在当代的流行程度。前两种疾病属于遗传性疾病,似乎为杂合子个体提供了生存优势,而纯合子突变携带者则会出现严重的健康问题。虽然手掌纤维瘤病没有明确的突变,但它的流行与 Y 染色体单倍群 I 的流行有关,后者在末次冰期后扩张,因此使这三种“凯尔特人”疾病的分布都依赖于 40 到 8 千年前的全球气候。在末次冰期,由于充满灰尘的大气(比今天多 20-25 倍),全球气候干燥而阴暗。有人假设皮肤色素沉着与阳光照射、紫外线保护和皮肤合成维生素 D 有关,因此当我们的祖先迁移到欧亚大陆时,皮肤白皙的个体具有优势。维生素 D 缺乏会导致多种健康后果,其中一些后果已被其他作者提出与囊性纤维化突变的传播有关:佝偻病/骨软化症;易患腹泻病和结核病以及盐诱导的动脉高血压。这里提出的联系是维生素 D 缺乏与慢性疾病贫血之间的联系,这可能促进了血色病突变的传播。近亲的后代可能面临健康问题的风险,这可能导致欧亚原始社会形成了血缘禁忌,这似乎是合理的。古代蒸汽浴仪式似乎与欧洲几个群体中囊性纤维化发病率较低有关,因此表明在上一个冰河时代干燥多尘的气候下对健康有保护作用,使 CFTR 突变在杂合子携带者中不那么有利。