Genetic polymorphism of the human organic solute carrier protein 1 (hOSCP1) gene in Japanese patients with non-viral liver carcinoma.
Genetic polymorphism of the human organic solute carrier protein 1 (hOSCP1) gene in Japanese patients with non-viral liver carcinoma.
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DOI：
10.1016/j.mgene.2014.09.002
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发表时间：
2014-12
期刊：
影响因子：
0.7
通讯作者：
Yamamoto, Toshinori
中科院分区：
文献类型：
--
作者：
Toda, Mayumi;Kobayashi, Yasuna;Koizumi, Tomotake;Saito, Koji;Ohbayashi, Masayuki;Kohyama, Noriko;Aoki, Takeshi;Murakami, Masahiko;Yasuhara, Hajime;Yamamoto, Toshinori
人有机溶质载体蛋白1（Human organic solute carrier protein 1，hOSCP 1）是一种非Na+依赖的多特异性有机溶质转运蛋白。迄今为止，一些研究表明，转运蛋白的基因突变可能与一些疾病有关;然而，没有关于日本非病毒性肝癌（LC）患者hOSCP 1基因遗传多态性的数据。在本研究中，我们从LC的正常部分分离基因组DNA，并分析了41个单核苷酸多态性（SNPs）从数据库中选择的SNPs（dbSNPs）。我们发现2个非同义SNP [rs34409118（Thr 131 → Ala）和rs 1416840（Ile 219 → Thr）]和1个同义SNP [rs 16822954（Ser 193 → Ser）]的基因型频率与dbSNP相比具有统计学显著性。hOSCP 1基因rs 2275477（Gly 307 → Arg）位点无统计学意义。关于等位基因频率，我们还观察到rs34409118具有统计学显著性。有趣的是，我们发现非病毒性LC患者不携带rs 1416840（A/G）和rs 16822954（A/G）杂合突变，这表明这两个SNP中杂合突变的非携带者可能是日本人非病毒性LC易感性的生物标志物。对hOSCP 1变异体患者的进一步分析可能阐明hOSCP 1基因与日本患者非病毒性LC易感性之间的关系。
Human organic solute carrier protein 1 (hOSCP1) is a Na+-independent multispecific organic solute transporter. To date, several studies have revealed that gene mutations of the transporters are likely to be associated with some diseases; however, there are no data concerning the genetic polymorphism of the hOSCP1 gene in Japanese patients with non-viral liver carcinoma (LC). In the present study, we isolated genomic DNA from a normal portion of LC, and analyzed 41 single nucleotide polymorphisms (SNPs) chosen from a database of SNPs (dbSNPs). We found genotype frequencies for 2 non-synonymous SNPs [rs34409118 (Thr131 → Ala) and rs1416840 (Ile219 → Thr)] and 1 synonymous SNP [rs16822954 (Ser193 → Ser)] to be statistically significant when compared with dbSNPs. No statistical significance was observed in rs2275477 (Gly307 → Arg) in the hOSCP1 gene. With respect to the allele frequency, we also observed rs34409118 to be statistically significant. Interestingly, we found that non-viral LC patients do not carry heterozygous mutations in rs1416840 (A/G) and rs16822954 (A/G), suggesting that a non-carrier of heterozygous mutations in these two SNPs might be a biomarker for susceptibility for non-viral LC in Japanese. Further analyses of patients with hOSCP1 variants may elucidate the relationship between the hOSCP1 gene and susceptibility of non-viral LC in Japanese patients.