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与印度尼西亚尼亚斯岛的高血糖和高血脂相关的极端奠基者效应。

Extreme founder effect associated with hyperglycemia and hyperlipidemia on the island of NIAS/Indonesia.

作者信息

Kennerknecht Ingo, Hämmerle Johannes M, Fobker Manfred, Nofer Jerzy-Roch

机构信息

Institute of Human Genetics, University of Münster, Münster, Germany.

Yayasan Pusaka Nias (YPN), Gunungsitoli, Sumatera Utara, Indonesia.

出版信息

Atheroscler Plus. 2024 Jul 23;57:26-29. doi: 10.1016/j.athplu.2024.07.002. eCollection 2024 Sep.

Abstract

The island of Nias/Indonesia shows an extremely reduced genetic diversity indicating a strong founder effect. As a consequence, the prevalence of some disease genes should significantly differ among populations depending on the gene pool passed on to the founder population and their successive expansion as it has already been documented for several monogenic diseases. Results of the current study based on routine laboratory blood examination give rise to the notion that this might also hold true for polygenic disorders. We observed very high prevalence of hyperglycemia (non-fasting glucose above 200 mg/dL in 14 % Nias population compared to 1.5 % in the population of the neighboring island of Sumatra) accompanied by hypertriglyceridemia, high non-HDL-cholesterol, and low HDL-cholesterol levels. These findings suggest that the Nias population may be disproportionally affected by prediabetes and type 2 diabetes mellitus. By contrast, laboratory parameters potentially indicative of other polygenic disorders such as total plasma cholesterol, electrolytes, creatinine, urea, and uric acid were comparable between the inhabitants of Nias and Sumatra islands. To our knowledge this is the first study suggesting that the extremely strong genetic bottleneck seen in the Nias population translates into the widespread metabolic disease with potentially deleterious influence on public health.

摘要

印度尼西亚尼亚斯岛的遗传多样性极低,这表明存在强烈的奠基者效应。因此,某些疾病基因的患病率在不同人群中可能存在显著差异,这取决于传递给奠基者群体的基因库以及随后的扩张情况,这在一些单基因疾病中已有记载。基于常规实验室血液检查的当前研究结果引发了这样一种观念,即这对于多基因疾病可能同样适用。我们观察到高血糖的患病率非常高(尼亚斯岛人群中14%的非空腹血糖高于200mg/dL,而邻近的苏门答腊岛人群中这一比例为1.5%),同时伴有高甘油三酯血症、高非高密度脂蛋白胆固醇和低高密度脂蛋白胆固醇水平。这些发现表明,尼亚斯岛人群可能受到糖尿病前期和2型糖尿病的影响过大。相比之下,尼亚斯岛和苏门答腊岛居民之间,可能指示其他多基因疾病的实验室参数,如总血浆胆固醇、电解质、肌酐、尿素和尿酸,并无差异。据我们所知,这是第一项表明尼亚斯岛人群中极其强烈的遗传瓶颈转化为广泛的代谢性疾病并可能对公众健康产生有害影响的研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a4c/11331701/9d7c0b648cd4/gr1.jpg

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