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.

中文翻译：

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巴西南部人群 LCT_rs140433552*CA>del Indel 多态性与乳糖不耐症之间缺乏关联

背景/目的：乳糖酶基因 (LCT) 增强子的多态性与乳糖酶持久性密切相关，但并不总是能预测表型。我们研究了 LCT 的调节性 rs140433552*CA>del 变体与乳糖不耐症 (LI) 之间的可能关联。方法：我们对 122 个个体的 rs140433552 和 rs4988235 (–13910*C>T) 进行了基因分型。结果：rs140433552*CA>del 与 LI 的关联取决于 –13910*C>T。C-CA 单倍型的纯合个体以及 C-CA+/C 个体似乎更有可能表现出 LI（OR 3.33 [95% CI 1.32–8.35]，p = 0.011 和 OR 3.93 [95% CI 1.61– 9.61]，分别为 p = 0.003），而 T-CA 单倍型的纯合个体似乎更可能耐受乳糖（OR 0.04 [95% CI 0.002–0.70]，p = 8 × 10–4）。结论：rs140433552*CA>