Overweight, but not hypertension, is associated with SAH polymorphisms in Caucasians with essential hypertension.
The gene SAH (chromosome 16p12.3) is of interest in the etiology of human hypertension. In Caucasians a PstI restriction fragment length polymorphism (RFLP) of SAH has been correlated with body weight in individuals with hypertension. To extend this finding we carried out a case-control study of several recently identified polymorphisms in SAH: 1) an insertion/deletion of TTTAA at nucleotide --1037 in the promoter; 2) an insertion/deletion of two Alu like sequences in intron 1; and 3) an A-G variant in intron 12 located 7 bp upstream from exon 13. Subjects were 121 hypertensives with 2 hypertensive parents and 178 normotensives whose parents were both normotensive. All were Anglo-Celtic Caucasians and 51% of the hypertensives were overweight (body mass index (BMI)>25 kg/m2). The SAH promoter and intron 1 variants, but not the intron 12 or PstI RFLP, were in linkage disequilibrium (LD) (D'=100%, p<0.001). We found no association between any of the polymorphisms and hypertension. However, the frequency of the minor allele of the intron 1 polymorphism (0.20) was higher in overweight than in normal weight hypertensives (0.07) (p=0.013). This association was supported by the weak tracking of plasma lipid variables with this allele (p values=0.01-0.04), although these lost their statistical significance after correction for multiple comparisons. In conclusion, the present data offers support for variation in SAH having a role in predisposition to overweight in hypertensives.
Basic & Clinical Genomics Laboratory, School of Medical Science and Institute for Biomedical Research, The University of Sydney, Sydney, Australia.
Adam V
AV
Benjafield
Naoharu
N
Iwai
Kazuhiko
K
Ishikawa
William Y S
WY
Wang
Brian J
BJ
Morris
D000328:Adult; D000368:Aged; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D003066:Coenzyme A Ligases; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D009765:Obesity / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D011506:Proteins / Q000235:genetics*; D044465:White People / Q000235:genetics*
D011506:Proteins; C487181:ACSM3 protein, human; D003066:Coenzyme A Ligases