俄罗斯乳糖酶缺乏症:多民族遗传研究
Elena Kovalenko1, Ekaterina Vergasova1, Olesya Shoshina2
1Genotek Ltd., Moscow, Russia.
European journal of clinical nutrition
|June 13, 2023
概括
乳糖酶不持续性或成人乳糖酶缺乏症在俄罗斯很常见. 基因检测显示,乳糖缺乏基因型的患病率很高,特别是在东斯拉夫人中,这突出了重大的公共卫生问题.
科学领域:
- 人类遗传学 人类遗传学
- 人口遗传学 人口遗传学
- 营养科学 营养科学
背景情况:
- 乳糖持续性,即成年时消化乳糖的能力,是与畜牧业有关的进化适应.
- 乳糖酶不持续性 (成人乳糖酶缺乏症) 在全球范围内仍然普遍存在.
- 了解乳糖缺乏对于公共卫生和饮食考虑至关重要.
研究的目的:
- 在俄罗斯进行乳糖酶缺乏的大规模遗传研究.
- 为了确定乳糖缺乏基因型 (rs4988235 GG) 在不同俄罗斯人口中的流行率.
- 调查俄罗斯乳糖缺乏症的区域差异.
主要方法:
- 一项涉及俄罗斯24,439名个人的多民族遗传研究.
- 当地祖先推断以估计人口群的百分比.
- 计算rs4988235 GG基因型频率使用问卷数据的位置和出生地.
主要成果:
- 俄罗斯的rs4988235 GG基因型的发病率超过了欧洲的平均水平.
- 东斯拉夫人中乳糖缺乏基因型的患病率很高,为42.8%.
- 根据居住地确定了乳糖缺乏患病率的区域差异.
结论:
- 乳糖不耐症的遗传检测对诊断具有重要意义.
- 乳糖缺乏症是俄罗斯普遍存在的问题,需要医疗保健和食品行业的关注.
- 这项研究强调了在公共卫生战略中解决乳糖缺乏症的必要性.
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