Key result
Heterozygous loss-of-function mutations and other polymorphisms in the CMA1 gene had no significant effect on blood pressure values or hypertension prevalence in a Japanese cohort.
Why the study?
Do CMA1 gene polymorphisms affect blood pressure values or hypertension status in the general Japanese population?
Cohort (n=1,859)
Do CMA1 gene polymorphisms affect blood pressure values or hypertension status in the general Japanese population?
Answers are grounded in this paper and cite their sources.
Heterozygous loss-of-function mutations in the CMA1 gene do not significantly affect blood pressure levels or hypertension risk in the Japanese population.
OBJECTIVE: It has been suspected that the mast cell chymase gene (CMA1) is important for the generation of angiotensin II and therefore might be associated with the pathogenesis of hypertension. METHODS: We sequenced the promoter region, exons, and exon-intron junctions of CMA1 and found 13 single-nucleotide polymorphisms, two of which were loss-of-function mutations. The loss-of-function mutations resulted in: (1) a premature stop codon; and (2) atypical splicing which creates a frame-shift and a stop codon. To elucidate the role of CMA1 in blood pressure regulation, we conducted an association study using these polymorphisms, including the loss-of-function mutations. The study population consisted of 1859 subjects, selected consecutively from the Suita study, an epidemiological cohort representing the general population in Japan. RESULTS: There was no difference in the genotype distribution of the polymorphisms we studied between hypertensive and normotensive subjects, among either men or women. Moreover, neither of the heterozygous loss-of function mutations had a significant effect on blood pressure values. CONCLUSION: Our data suggest that CMA1 is unlikely to influence blood pressure levels in the Japanese population.
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Ono et al. (2003) conducted a cohort in Hypertension (n=1,859). CMA1 gene polymorphisms (including loss-of-function mutations) vs. Absence of specific CMA1 polymorphisms was evaluated on Blood pressure values and genotype distribution between hypertensive and normotensive subjects. Heterozygous loss-of-function mutations and other polymorphisms in the CMA1 gene had no significant effect on blood pressure values or hypertension prevalence in a Japanese cohort.
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