Key result
Chromosomal SNPs including rs2315314 linked to an ~8-mmHg increase in systolic blood pressure.
Why the study?
Specific susceptibility loci for elevated blood pressure have been difficult to localize despite its heritability, especially in low-risk populations with reduced environmental complexity.
Observational (n=713)
No
Mean Difference: 7.84
p-value: p=<0.05
These BP-associated SNPs are hypothesis-generating; replication in independent cohorts is required before any clinical or mechanistic inference.
BACKGROUND: Elevated blood pressure (BP) shares a level of heritability similar to many other traits related to cardiovascular risk; however, specific susceptibility loci have been difficult to localize. We conducted a multistage study of BP as a continuous trait in a low-risk West African population in which it was anticipated that environmental exposures would be reduced in complexity and intensity. In our earlier genome-wide linkage study for BP in this population, strong linkage evidence was noted on chromosomes 6 and 7. METHODS AND RESULTS: We subsequently genotyped a total of 3431 tag single-nucleotide polymorphisms (SNPs) in 3 regions (viz, 152.68 to 165.99 Mb on chromosome 6, 0.29 to 20.67 Mb, and 104.09 to 123.06 Mb on chromosome 7) in 713 individuals from 199 families. We conducted a family-based association analysis using individual SNPs and associated haplotypes. After correction for multiple comparisons, 6 intronic and 1 intergenic SNPs achieved nominal statistical significance (P<0.05) for the association with BP. The associated intronic SNPs include 2 in the PARK2 gene on chromosome 6; 2 in the KCND2 gene, and 1 each in the C7orf58 and HDAC9 genes on chromosome 7. The intergenic SNP is located between the RPA3 and GLCCI1 genes on chromosome 7. The haplotypes on which these SNPs resided were more strongly associated with BP than their respective single SNPs. The frequency of the "at-risk" haplotypes ranged from 14% to 48%. CONCLUSIONS: These data provide preliminary evidence that regions on chromosomes 6 and 7 may influence susceptibility to elevations in BP.
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Tayo et al. (2009) conducted an observational in Blood pressure (n=713). Single-nucleotide polymorphisms (SNPs) on chromosomes 6 and 7 vs. Reference alleles was evaluated on Association of SNPs with systolic and diastolic blood pressure (effect size 7.84, p=<0.05). Specific SNPs on chromosomes 6 and 7, including rs2315314 in the PARK2 gene, were significantly associated with blood pressure, with an additive effect size of 7.84 for systolic blood pressure.
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