日本人群中单羧酸转运蛋白基因（SLC16A1、SLC16A3和SLC16A11）的基因变异
Genetic variations in the monocarboxylate transporter genes (SLC16A1, SLC16A3, and SLC16A11) in the Japanese population.
作者信息
Kimura Yuki, Kobayashi Masaki, Asari Masaru, Higuchi Issei, Narumi Katsuya, Furugen Ayako, Iseki Ken
机构信息
Laboratory of Clinical Pharmaceutics & Therapeutics, Division of Pharmasciences, Faculty of Pharmaceutical Sciences, Hokkaido University, Kita-12-Jo, Nishi-6-chome, Kita-ku, Sapporo, 060-0812, Japan.
Department of Pharmacy, Hokkaido University Hospital, Sapporo, 060-8648, Japan.
出版信息
Drug Metab Pharmacokinet. 2018 Oct;33(5):215-218. doi: 10.1016/j.dmpk.2018.05.001. Epub 2018 Jun 1.
MCT1 (SLC16A1), MCT4 (SLC16A3), and MCT11 (SLC16A11) are members of the monocarboxylate transporter (MCT) family. MCT1 and MCT4 transport pH-related monocarboxylates, such as lactate and pyruvate. MCT11 may also be a proton-coupled monocarboxylate transporter. Although alterations of these substrates are involved in the pathology of cancer and diabetes, little is known about MCT polymorphisms. In this study, genetic variation was evaluated in SLC16A1, SLC16A3, and SLC16A11 in the Japanese population (healthy volunteers, n = 92). Polymorphisms in the coding regions of the SLC16A1, SLC16A3, and SLC16A11 genes were screened by DNA sequencing. A single polymorphism that caused a change in the amino acid sequence was found in SLC16A1 (rs1049434 (T1470A, D490E)) and in SLC16A3 (rs368788465 (C641T, S214F)). Five polymorphisms were detected in the SLC16A11 gene (rs117767867 (G337A, V113I), rs13342692 (A380G, D127G), rs13342232 (T561C, silent), rs75418188 (G1018A, G340S), and rs75493593 (C1327A, P443T)). This information for a healthy population provides a comparison for further studies of patients with various diseases such as cancer and diabetes.
单羧酸转运蛋白1（MCT1，即溶质载体家族16成员1，SLC16A1）、单羧酸转运蛋白4（MCT4，即溶质载体家族16成员3，SLC16A3）和单羧酸转运蛋白11（MCT11，即溶质载体家族16成员11，SLC16A11）均为单羧酸转运蛋白（MCT）家族成员。MCT1和MCT4负责转运与pH相关的单羧酸，如乳酸和丙酮酸。MCT11可能也是一种质子偶联单羧酸转运蛋白。尽管这些底物的改变与癌症和糖尿病的病理过程有关，但对于MCT基因多态性却知之甚少。在本研究中，我们评估了日本人群（92名健康志愿者）中SLC16A1、SLC16A3和SLC16A11的基因变异情况。通过DNA测序筛查了SLC16A1、SLC16A3和SLC16A11基因编码区的多态性。在SLC16A1中发现了一个导致氨基酸序列改变的单核苷酸多态性（rs1049434，T1470A，D490E），在SLC16A3中也发现了一个（rs368788465，C641T，S214F）。在SLC16A11基因中检测到5个多态性位点（rs117767867，G337A，V113I；rs13342692，A380G，D127G；rs13342232，T561C，沉默突变；rs75418188，G1018A，G340S；rs75493593，C1327A，P443T）。这些健康人群的信息为进一步研究癌症和糖尿病等各种疾病的患者提供了比较依据。
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