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


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 (<or=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).


CONCLUSIONS
A simple genetic score of 11 polymorphisms may identify those subjects at increased risk of CHD beyond conventional risk factors.
Junyent
M
M
The Jean Mayer US Department of Agriculture Human Nutrition Research Center on Aging at Tufts University School of Medicine, Boston, MA 02111, USA. mireia.junyent@tufts.edu
Tucker
K L
KL
Shen
J
J
Lee
Y-C
YC
Smith
C E
CE
Mattei
J
J
Lai
C-Q
CQ
Parnell
L D
LD
Ordovas
J M
JM
D000368:Aged; D000428:Alcohol Drinking / Q000453:epidemiology; D001900:Boston; D003327:Coronary Disease / Q000453:epidemiology / Q000235:genetics*; D015444:Exercise; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006630:Hispanic or Latino / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D006949:Hyperlipidemias / Q000453:epidemiology; D006973:Hypertension / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011647:Puerto Rico / Q000208:ethnology; D012307:Risk Factors; D012907:Smoking / Q000453:epidemiology