BMC Med Genet. 2013 Jul 10;14:69. doi: 10.1186/1471-2350-14-69.
The rs41318021 polymorphism in the SLC7A1 gene affects endothelial NO production through changes in L-arginine transport. This variation could thus hypothetically cause dysfunction of endothelium and lead to hypertension. The association of rs41318021 with hypertension was therefore studied in a Finnish cohort.
A total of 412 hypertensive cases and 771 non-hypertensive controls from a Finnish 50-year-old cohort were included in this study. The data was collected from the Tampere adult population cardiovascular risk study (TAMRISK). DNA was extracted from buccal swabs and amplified using PCR. A subpopulation of men and women who had available follow-up data of blood pressure measurements at the age of 35-, 40-, 45- and 50 years was also analyzed.
There was no difference between the variant frequencies of the hypertension group and normotensive group at the age of 50 years (p = 0.209). However, repeated measures analysis from the 15-year follow-up showed that subjects having gene variants CT or TT had slightly higher diastolic blood pressure than subjects having genotype CC (p = 0.047). By post-hoc analysis, this was most pronounced at the age of 35 years (p = 0.044).
The rs41318021 polymorphism in the SLC7A1 gene was not associated with essential hypertension in 50-year-old subjects. However, a borderline effect of this variation upon diastolic blood pressure was seen in these same subjects in a 15-year follow-up from a 35-year-old cohort to 50 years of age.
SLC7A1 基因中的 rs41318021 多态性通过改变 L-精氨酸转运来影响内皮细胞 NO 的产生。因此,这种变异理论上可能导致内皮功能障碍,并导致高血压。因此,在芬兰队列中研究了 rs41318021 与高血压的相关性。
本研究共纳入来自芬兰 50 岁人群心血管风险研究(TAMRISK)的 412 例高血压患者和 771 例非高血压对照。从颊拭子中提取 DNA 并使用 PCR 扩增。还分析了一组男性和女性的随访数据,这些数据可获得他们在 35 岁、40 岁、45 岁和 50 岁时的血压测量值。
在 50 岁时,高血压组和正常血压组的变异频率没有差异(p = 0.209)。然而,15 年的重复测量分析显示,与 CC 基因型的受试者相比,携带 CT 或 TT 基因变异的受试者舒张压略高(p = 0.047)。通过事后分析,这在 35 岁时最为明显(p = 0.044)。
SLC7A1 基因中的 rs41318021 多态性与 50 岁受试者的原发性高血压无关。然而,在相同的受试者中,在一项 35 岁至 50 岁的 15 年随访中,这种变异对舒张压的影响呈边缘效应。