Genotype at the P554L Variant of the Hexose-6 Phosphate Dehydrogenase Gene Is Associated with Carotid Intima-Medial Thickness
2011

H6PD Gene and Carotid Intima-Medial Thickness

Sample size: 854 publication Evidence: moderate

Author Information

Author(s): Rahman Thahira J., Walker Elizabeth A., Mayosi Bongani M., Hall Darroch H., Avery Peter J., Connell John M. C., Watkins Hugh, Stewart Paul M., Keavney Bernard

Primary Institution: Institute of Genetic Medicine, Newcastle University

Hypothesis

Is there a genetic association between polymorphisms in the H6PD gene and carotid intima-medial thickness?

Conclusion

The study suggests a novel role for the H6PD gene in susceptibility to atherosclerosis.

Supporting Evidence

  • The study involved 854 participants from 224 families.
  • CIMT was measured using B-mode ultrasound.
  • The rs17368528 SNP was significantly associated with mean CIMT.
  • Each T allele was associated with a 5% increase in mean CIMT.
  • The study adjusted for classical cardiovascular risk factors.

Takeaway

This study found that a specific gene variant can make your arteries thicker, which might lead to heart problems.

Methodology

A genetic association study was performed on 854 members of 224 families, measuring carotid intima-medial thickness using B-mode ultrasound and genotyping SNPs in the H6PD gene.

Potential Biases

Potential bias due to the ascertainment of families through hypertensive probands.

Limitations

The study's findings may not be generalizable beyond the specific population studied, and the effect size is modest.

Participant Demographics

Participants were British Caucasian families, with a mean age of 51 years, including 449 men and 506 women.

Statistical Information

P-Value

0.00065

Statistical Significance

p=0.00065

Digital Object Identifier (DOI)

10.1371/journal.pone.0023248

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