Association study of the 5-HT(2A) receptor gene polymorphism, T102C and essential hypertension.
BACKGROUND
Serotonin dysfunction has been implicated in hypertension due to its ability to induce vasoconstriction via stimulation of 5-HT(2) receptors and due to the antihypertensive effect of ketanserin, an antagonist at the 5-HT(2A) receptor subtype, expressed both on arteries and the brain. The silent T102C polymorphism in the 5-HT(2A) gene is in absolute linkage disequilibrium with a polymorphism in the promoter and may contribute to genetic predisposition possibly by modifying the transcription of the gene.


OBJECTIVE
To examine the genetic contribution of the T102C 5-HT(2A)polymorphism in essential hypertension in a case-control sample of UK residents.


METHODS
The hypertensive group consisted of 342 subjects over 75 years and the community-based control group consisted of 319 subjects. Subjects were genotyped for the T102C polymorphism by Mspl restriction enzyme digestion following PCR amplification.


RESULTS
Sex-specific association analysis revealed significant differences between hypertensive and normotensive subjects in the genotypes distribution (P = 0.016) and allelic frequencies (P = 0.007) in the female group. The direction of significance was increased frequency of the 102-C allele in the hypertensive subjects. There were no association between haplotype and age or body mass index, which suggest that the effect of the T102C variant is not influenced by these variables.


CONCLUSIONS
This data indicates that the T102C polymorphism in the 5-HT(2A) gene might be an independent risk factor for increased blood pressure in female individuals with essential hypertension.
Liolitsa
D
D
Department of Neuroscience, Institute of Psychiatry, Denmark Hill, London SE5 8AF, UK. dliolitsa@excite.co.uk
Powell
J F
JF
Prince
M
M
Lovestone
S
S
D017677:Age Distribution; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D016009:Chi-Square Distribution; D005260:Female; D015870:Gene Expression; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D011110:Polymorphism, Genetic; D011336:Probability; D044402:Receptor, Serotonin, 5-HT2A; D011985:Receptors, Serotonin / Q000032:analysis / Q000235:genetics*; D012680:Sensitivity and Specificity; D017678:Sex Distribution; D006113:United Kingdom / Q000453:epidemiology
D044402:Receptor, Serotonin, 5-HT2A; D011985:Receptors, Serotonin