Two medium-chain acyl-coenzyme A synthetase genes, SAH and MACS1, are associated with plasma high-density lipoprotein cholesterol levels, but they are not associated with essential hypertension.
OBJECTIVE
SAH has been proposed as a candidate gene for essential hypertension (EH) because elevated expression of SAH was observed in the kidneys of spontaneously hypertensive rats. Recently, a homology search of SAH in the human genome revealed the presence of the SAH gene family, which includes SAH, MACS1, MACS2, and MACS3. SAH and MACS1 are located within a 150-kb region on human chromosome 16p13.11. SAH and MACS1 are thought to function as acyl-coenzyme A synthetases, which are involved in fatty acid metabolism. In the present study, we analyzed six single nucleotide polymorphisms (SNPs) in the SAH and MACS1 genes in a Japanese population, and examined whether these SNPs contribute to EH and multiple risk factors.


RESULTS
We performed association studies of six SNPs in 287 EH patients and 259 normotensive subjects. Multiple logistic linear regression analysis revealed that the allele frequencies of these six SNPs in SAH and MACS1 genes were not significantly different between EH patients and normotensives. SNP in exon 8 of the A/G polymorphism of the MACS1 gene and the G/T SNP in intron 3 of the SAH gene were associated with plasma levels of plasma high-density lipoprotein cholesterol.


CONCLUSIONS
SNPs in the MACS1 and SAH genes contribute to plasma levels of high-density lipoprotein cholesterol.
Haketa
Akira
A
Department of Nephrology and Endocrinology, Advanced Medical Research Center, Nihon University School of Medicine, Tokyo, Japan.
Soma
Masayoshi
M
Nakayama
Tomohiro
T
Sato
Mikano
M
Kosuge
Kotoko
K
Aoi
Noriko
N
Matsumoto
Koichi
K
D000225:Adenine; D000483:Alleles; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D008076:Cholesterol, HDL / Q000097:blood*; D003066:Coenzyme A Ligases / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006147:Guanine; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D007438:Introns / Q000235:genetics; D007527:Isoenzymes / Q000235:genetics; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D013941:Thymine
D008076:Cholesterol, HDL; D007527:Isoenzymes; D006147:Guanine; C437335:ACSM1 protein, human; D003066:Coenzyme A Ligases; D000225:Adenine; D013941:Thymine