title: Characterization of VNTRs Within the Entire Region of SLC6A3 and Its Association with Hypertension.
abstract: The dopamine transporter SLC6A3 (DAT1) mediates uptake of dopamine into presynaptic terminals. In addition, in previous reports, hypertensive rats were associated with DAT gene, but the genetic association with SLC6A3 and hypertension is still unknown. We examined the distribution of variable number of tandem repeats (VNTRs) and conducted polymorphic analysis of the entire region of SLC6A3. Ten VNTR regions (MS1-10) were revealed throughout the intronic and UTRs; seven VNTR regions were newly isolated and three VNTRs were previously reported. Four VNTR regions (SLC6A3-MS1, -MS4, -MS8 [rs3836790], and -MS9 [rs28363170]) showed polymorphism and these loci were found to be transmitted through meiosis following Mendelian inheritance. These VNTR polymorphisms may be useful markers for paternity mapping and DNA fingerprinting. Furthermore, we also conducted a case-control study between the controls and essential hypertensive cases. Analysis of the genotypes of SLC6A3-MS8 (rs3836790) revealed that having an 8/6-repeat allele, which was only detected in hypertensive cases, was associated with hypertension (p < 0.05). Additional significant association was identified between the short 7-repeat allele of SLC6A3-MS9 (rs28363170) and the occurrence of hypertension (odds ratio 2.02; p < 0.05). These results revealed the genetic association between SLC6A3 and hypertension, and the specific VNTR alleles of SLC6A3 may be a risk factor for hypertension.
authors.affiliation: 1 Department of Biological Science, Dong-A University , Busan, Korea.
authors.forename: Won-Tae
authors.initials: WT
authors.lastname: Kim
authors.affiliation: 1 Department of Biological Science, Dong-A University , Busan, Korea.
authors.forename: Se-Ra
authors.initials: SR
authors.lastname: Lee
authors.affiliation: 1 Department of Biological Science, Dong-A University , Busan, Korea.
authors.forename: Yun-Gil
authors.initials: YG
authors.lastname: Roh
authors.affiliation: 2 Division of Life Science Team, Korea Basic Science Institute , Daejeon, Korea.
authors.forename: Seung Il
authors.initials: SI
authors.lastname: Kim
authors.affiliation: 3 Department of Biochemistry, College of Oriental Medicine, Anti-Aging Research Center, Dong-eui University , Busan, Korea.
authors.forename: Yung Hyun
authors.initials: YH
authors.lastname: Choi
authors.affiliation: 1 Department of Biological Science, Dong-A University , Busan, Korea.
authors.forename: Mi-Hye
authors.initials: MH
authors.lastname: Mun
authors.affiliation: 1 Department of Biological Science, Dong-A University , Busan, Korea.
authors.forename: Mi-So
authors.initials: MS
authors.lastname: Jeong
authors.affiliation: 1 Department of Biological Science, Dong-A University , Busan, Korea.
authors.forename: Sang Seok
authors.initials: SS
authors.lastname: Koh
authors.affiliation: 1 Department of Biological Science, Dong-A University , Busan, Korea.
authors.forename: Sun-Hee
authors.initials: SH
authors.lastname: Leem
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D016022:Case-Control Studies; D050483:Dopamine Plasma Membrane Transport Proteins / Q000235:genetics*; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D018598:Minisatellite Repeats / Q000235:genetics*; D016017:Odds Ratio; D010375:Pedigree; D011110:Polymorphism, Genetic; D012307:Risk Factors
chemical_list: D050483:Dopamine Plasma Membrane Transport Proteins; C493214:SLC6A3 protein, human
keywords: SLC6A3; essential hypertension; minisatellite polymorphisms; solute carrier family 6