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首页> 外文期刊>The Korean Journal of Physiology & Pharmacology >Polymorphisms of SLC22A9 (hOAT7) in Korean Females with Osteoporosis
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Polymorphisms of SLC22A9 (hOAT7) in Korean Females with Osteoporosis

机译：SLC22A9（hOAT7）在韩国女性骨质疏松症中的多态性

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Among solute carrier proteins, the organic anion transporters (OATs) play an important role for the elimination or reabsorption of endogenous and exogenous negatively charged anionic compounds. Among OATs, SLC22A9 (hOAT7) transports estrone sulfate with high affinity. The net decrease of estrogen, especially in post-menopausal women induces rapid bone loss. The present study was performed to search the SNP within exon regions of SLC22A9 in Korean females with osteoporosis. Fifty healthy controls and 50 osteoporosis patients were screened for the genetic polymorphism in the coding region of SLC22A9 using GC-clamped PCR and denaturing gradient gel electrophoresis (DGGE). Six SNPs were found on the SLC22A9 gene from Korean women with/without osteoporosis. The SNPs were located as follows: two SNPs in the osteoporosis group (A645G and T1277C), three SNPs in the control group (G1449T, C1467T and C1487T) and one SNP in both the osteoporosis and control groups (G767A). The G767A, T1277C and C1487T SNPs result in an amino acid substitution, from synonymous vs nonsynonymous substitution arginine to glutamine (R256Q), phenylalanine to serine (F426S) and proline to leucine (P496L), respectively. The Km values and Vmax of the wild type, R256Q, P496L and F426S were 8.84, 8.87, 9.83 and 12.74 μM, and 1.97, 1.96, 2.06 and 1.55 pmol/oocyte/h, respectively. The present study demonstrates that the SLC22A9 variant F426S is causing inter-individual variation that is leading to the differences in transport of the steroid sulfate conjugate (estrone sulfate) and, therefore this could be used as a marker for certain disease including osteoporosis.
机译：在溶质载体蛋白中，有机阴离子转运蛋白（OAT）对于消除或重新吸收内源性和外源性带负电荷的阴离子化合物起着重要作用。在OAT中，SLC22A9（hOAT7）以高亲和力转运硫酸雌酮。雌激素的净减少，尤其是在绝经后的女性中，会导致骨质快速流失。本研究旨在搜索韩国骨质疏松女性中SLC22A9外显子区域内的SNP。使用GC固定PCR和变性梯度凝胶电泳（DGGE），筛选了50名健康对照和50名骨质疏松患者的SLC22A9编码区遗传多态性。在患有或不患有骨质疏松症的韩国女性的SLC22A9基因上发现了六个SNP。这些SNP的位置如下：骨质疏松症组中的两个SNP（A645G和T1277C），对照组中的三个SNP（G1449T，C1467T和C1487T）和骨质疏松症和对照组中的一个SNP（G767A）。 G767A，T1277C和C1487T SNP分别导致一个氨基酸取代，从同义对非同义取代精氨酸到谷氨酰胺（R256Q），苯丙氨酸到丝氨酸（F426S）和脯氨酸到亮氨酸（P496L）。野生型，R256Q，P496L和F426S的Km值和Vmax分别为8.84、8.87、9.83和12.74μM，以及1.97、1.96、2.06和1.55 pmol /卵母细胞/ h。本研究表明，SLC22A9变体F426S引起个体间变异，导致类固醇硫酸盐共轭物（硫酸雌酮）转运的差异，因此可以用作某些疾病（包括骨质疏松症）的标志物。

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