巴西南部人群LCT_rs140433552*CA>del Indel多态性与乳糖不耐症缺乏相关性

IF 2 4区医学 Q3 GENETICS & HEREDITY

Lifestyle Genomics Pub Date : 2020-01-01 Epub Date: 2020-07-13 DOI:10.1159/000508509

Luana Caroline Oliveira, Andrey Lucas Dias Barros, Angelica Beate Winter Boldt, Gabriel Adelman Cipolla

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引用次数: 0

摘要

背景/目的:乳糖酶基因增强子(LCT)的多态性与乳糖酶持久性密切相关，但并不总是预测表型。我们研究了LCT的调控rs140433552*CA>del变异与乳糖不耐症(LI)之间的可能关联。方法:对122例个体进行rs140433552和rs4988235基因分型(-13910*C>T)。结果:rs140433552*CA>del与LI的相关性依赖于-13910*C>T。C- ca单倍型纯合个体以及C- ca +/C个体似乎更容易出现LI (OR分别为3.33 [95% CI 1.32-8.35]， p = 0.011, OR为3.93 [95% CI 1.61-9.61]， p = 0.003)，而T-CA单倍型纯合个体似乎更容易出现乳糖耐受(OR为0.04 [95% CI 0.002-0.70]， p = 8 × 10-4)。结论:rs140433552*CA>del与LI不独立相关。

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Lack of Association between LCT_rs140433552*CA>del Indel Polymorphism and Lactose Intolerance in a Southern Brazilian Population.

Background/aims: Polymorphisms in the enhancer of the lactase gene (LCT) are strongly associated with lactase persistence, but not always predictive of the phenotype. We investigated a possible association between the regulatory rs140433552*CA>del variant of LCT and lactose intolerance (LI).

Methods: We genotyped 122 individuals for rs140433552 and rs4988235 (-13910*C>T).

Results: Associations of rs140433552*CA>del with LI depend on -13910*C>T. Homozygous individuals for the C-CA haplotype, as well as C-CA+/C individuals, seem more likely to manifest LI (OR 3.33 [95% CI 1.32-8.35], p = 0.011, and OR 3.93 [95% CI 1.61-9.61], p = 0.003, respectively), while homozygous individuals for the T-CA haplotype seem more likely to be lactose tolerant (OR 0.04 [95% CI 0.002-0.70], p = 8 × 10-4).

Conclusions: rs140433552*CA>del is not independently associated with LI.

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来源期刊

Lifestyle Genomics Agricultural and Biological Sciences-Food Science

CiteScore

4.00

自引率

7.70%

发文量

审稿时长

28 weeks

期刊介绍： Lifestyle Genomics aims to provide a forum for highlighting new advances in the broad area of lifestyle-gene interactions and their influence on health and disease. The journal welcomes novel contributions that investigate how genetics may influence a person’s response to lifestyle factors, such as diet and nutrition, natural health products, physical activity, and sleep, amongst others. Additionally, contributions examining how lifestyle factors influence the expression/abundance of genes, proteins and metabolites in cell and animal models as well as in humans are also of interest. The journal will publish high-quality original research papers, brief research communications, reviews outlining timely advances in the field, and brief research methods pertaining to lifestyle genomics. It will also include a unique section under the heading “Market Place” presenting articles of companies active in the area of lifestyle genomics. Research articles will undergo rigorous scientific as well as statistical/bioinformatic review to ensure excellence.