Minisatellite polymorphisms of the SLC6A19: Susceptibility in hypertension

• Published in: Biochemical and biophysical research communications Vol. 374; no. 4; pp. 714 - 719
• Main Authors: Seol, So-Young, Lee, Sang-Yeop, Kim, Young-Dae, Do, Eun-Ju, Kwon, Jeong-Ah, Kim, Seung Il, Chu, In-Sun, Leem, Sun-Hee
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 03-10-2008
• Subjects: Adult; Aged; Aged, 80 and over; Alleles; Amino Acid Transport Systems, Neutral - genetics; Case-Control Studies; Essential hypertension; Female; Genetic Predisposition to Disease; Humans; Hypertension - genetics; Male; Middle Aged; Minisatellite polymorphisms; Minisatellite Repeats; Neurotransmitter transporter; Polymorphism, Genetic; Risk Factors; SLC6A19; VNTR; Essential hypertension; Minisatellite polymorphisms; SLC6A19; VNTR; Neurotransmitter transporter
• ISSN: 0006-291X; 1090-2104
• DOI: 10.1016/j.bbrc.2008.07.094

The SLC6A19 is a human homolog of B
0AT1 that encodes a neutral amino acid transporter. We examined the distribution of VNTR (variable number of tandem repeats; minisatellites) and conducted polymorphic analysis of SCL6A19 isolated from the genomic DNA of controls and multi-generational families. The SLC6A19 was found to contain seven blocks of minisatellites, 3 of which (SLC6A19-MS1, -MS4, and -MS7) showed polymorphism and were found to be transmitted through meiosis following Mendelian inheritance in seven families. These minisatellite polymorphisms may be useful markers for paternity mapping and DNA fingerprinting. Furthermore, we conducted a case-control study in which genomic DNA from 400 controls and 205 cases with essential hypertension was compared. A statistically significant association was identified between rare SLC6A19-MS7 alleles and the occurrence of hypertension (odds ratio, 7.87; 95% confidence interval, 0.88–70.66; and
p
=
0.028). These findings suggest that the rare SLC6A19-MS7 allele may be a risk factor for hypertension.