Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study
2008

Genetic Variants Linked to Blood Pressure in Amish and Framingham Studies

Sample size: 1189 publication 10 minutes Evidence: high

Author Information

Author(s): Patrick F. McArdle, Sue Rutherford, Braxton D. Mitchell, Coleen M. Damcott, Ying Wang, Vasan Ramachandran, Sandy Ott, Yen-Pei C. Chang, Daniel Levy, Nanette Steinle

Primary Institution: University of Maryland School of Medicine

Hypothesis

Are genetic variations in nicotinic acetylcholine receptor subunits associated with blood pressure regulation?

Conclusion

The study found that a specific genetic variant in the CHRNG gene is associated with higher systolic blood pressure in both the Amish and Framingham populations.

Supporting Evidence

  • The study identified 20 genetic variants in the nicotinic acetylcholine receptor genes.
  • The minor allele of SNP rs2099489 was associated with higher systolic blood pressure.
  • The findings were replicated in the Framingham Heart Study population.

Takeaway

Scientists looked at genes in some people to see if they affect blood pressure. They found one gene that seems to make blood pressure higher.

Methodology

Sequenced three nicotinic acetylcholine receptor subunits in Amish subjects, identified variants, and performed association analysis in both Amish and Framingham populations.

Potential Biases

Potential for population stratification affecting results, though the homogeneity of the Amish population reduces this risk.

Limitations

The study may not be generalizable beyond the Amish and Framingham populations due to genetic and environmental differences.

Participant Demographics

The primary sample consisted of Old Order Amish individuals, with a mean age of 49.4 years and low use of anti-hypertensive medication.

Statistical Information

P-Value

0.0009

Statistical Significance

p<0.01

Digital Object Identifier (DOI)

10.1186/1471-2350-9-67

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