印度尼西亚尼亚斯岛上与高血糖和高脂血症有关的极端奠基效应

IF 1.4 Q3 PERIPHERAL VASCULAR DISEASE Atherosclerosis plus Pub Date : 2024-07-23 DOI:10.1016/j.athplu.2024.07.002
Ingo Kennerknecht , Johannes M. Hämmerle , Manfred Fobker , Jerzy-Roch Nofer
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引用次数: 0

摘要

尼亚斯岛/印度尼西亚的遗传多样性极度减少,这表明有很强的始祖效应。因此,某些疾病基因的流行率在不同人群中会有很大差异,这取决于创始人群所传承的基因库及其连续扩展,这在几种单基因疾病中已有记录。本研究基于常规实验室血液检查的结果让人联想到多基因疾病也可能存在这种情况。我们观察到高血糖的发病率非常高(尼亚斯 14% 的人口空腹血糖超过 200 毫克/分升,而邻近的苏门答腊岛只有 1.5% 的人口空腹血糖超过 200 毫克/分升),同时还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。这些研究结果表明,尼亚斯岛人口中糖尿病前期和 2 型糖尿病患者的比例可能过高。相比之下,尼亚斯岛和苏门答腊岛居民的血浆总胆固醇、电解质、肌酐、尿素和尿酸等可能表明其他多基因疾病的实验室参数却相当。据我们所知,这是首次有研究表明,在尼亚斯岛人口中出现的极强的遗传瓶颈转化成了普遍的代谢性疾病,对公众健康具有潜在的有害影响。
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Extreme founder effect associated with hyperglycemia and hyperlipidemia on the island of NIAS/Indonesia

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.

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来源期刊
Atherosclerosis plus
Atherosclerosis plus Cardiology and Cardiovascular Medicine
CiteScore
2.60
自引率
0.00%
发文量
0
审稿时长
66 days
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