Minisatellite polymorphisms of the SLC6A19: susceptibility in hypertension.
The SLC6A19 is a human homolog of B(0)AT1 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.
Seol
So-Young
SY
Department of Biological Science, Dong-A University, 840 Hadan-2-dong, Saha-gu, Busan 604-714, Republic of Korea.
Lee
Sang-Yeop
SY
Kim
Young-Dae
YD
Do
Eun-Ju
EJ
Kwon
Jeong-Ah
JA
Kim
Seung Il
SI
Chu
In-Sun
IS
Leem
Sun-Hee
SH
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D026921:Amino Acid Transport Systems, Neutral / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D018598:Minisatellite Repeats; D011110:Polymorphism, Genetic; D012307:Risk Factors
D026921:Amino Acid Transport Systems, Neutral; C491436:SLC6A19 protein, human