A composite scoring of genotypes discriminates coronary heart disease risk beyond conventional risk factors in the Boston Puerto Rican Health Study

作者：Junyent M^*; Tucker K L; Shen J; Lee Y C; Smith C E; Mattei J; Lai C Q; Parnell L D; Ordovas J M

来源：Nutrition Metabolism and Cardiovascular Diseases, 2010, 20(3): 157-164.

DOI：10.1016/j.numecd.2009.03.016

• Genes
• Coronary heart disease
• Conventional risk factors
• Genetic predisposition score
• Single nucleotide polymorphism

Background and aims: Using a genetic predisposition score (GPS), integrating the additive associations of a set of single nucleotide polymorphisms (SNPs) with CHD, we examined the consequences of the joint presence of a high GPS and conventional risk factors (CRFs). Methods and results. We studied 11 SNPs at eight loci in 197 participants with prior CHD and 524 CHD-free subjects from the Boston Puerto Rican Health Study. Each polymorphism contributed 1 unit (high-risk allele homozygous), 0.5 units (heterozygous) and 0 units (low-risk allele homozygous) to the GPS. Odds ratio (OR) of CHD for those at high risk because of GPS (>5) and simultaneous presence of CRFs were estimated, compared with subjects at low risk, for both measurements.
The mean score was higher in participants with prior CHD than those CHD-free (P = 0.015), and the OR for CHD with a GPS > 5 was 2.90 (P < 0.001). The joint presence of a high GPS and each CRF was associated with higher risk of CHD. Compared to participants with high GPS, those with low GPS (<5) were protected against CHD even if they were smokers (OR = 0.44), heavy drinkers (OR = 0.43), displayed low physical activity (OR = 0.35), had hypertension (OR = 0.52) or hyperlipidemia (OR = 0.34) (P values ranging from 0.004 to 0.023).
Conclusion. A simple genetic score of 11 polymorphisms may identify those subjects at increased risk of CHD beyond conventional risk factors.

• 出版日期2010-3