title: Contribution of SLC7A1 genetic variant to hypertension, the TAMRISK study.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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).
  
  
  CONCLUSIONS
  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.
authors.forename: Kirsi
authors.initials: K
authors.lastname: Määttä
authors.forename: Tarja
authors.initials: T
authors.lastname: Kunnas
authors.forename: Seppo T
authors.initials: ST
authors.lastname: Nikkari
mesh_terms: D000328:Adult; D000367:Age Factors; D001120:Arginine / Q000378:metabolism; D001794:Blood Pressure / Q000235:genetics; D016022:Case-Control Studies; D027201:Cationic Amino Acid Transporter 1 / Q000235:genetics*; D015331:Cohort Studies; D000075222:Essential Hypertension; D005260:Female; D005387:Finland; D005500:Follow-Up Studies; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D012307:Risk Factors
chemical_list: D027201:Cationic Amino Acid Transporter 1; C420825:SLC7A1 protein, human; D001120:Arginine