No replication of association between estrogen receptor alpha gene polymorphisms and susceptibility to myocardial infarction in a large sample of patients of European descent.
BACKGROUND
The effects of estrogen on blood vessels are partly due to changes in vascular cell gene expression and protein synthesis that are mediated by estrogen receptors. In previous association studies, the -397T/C (rs2234693) and -351A/G (rs9340799) single nucleotide polymorphisms in the estrogen receptor alpha gene (ESR1) have been implicated in the risk of coronary atherosclerosis and myocardial infarction. To test these findings, we examined the relationship of the polymorphisms to myocardial infarction in a large sample of white patients and control individuals of predominantly European descent.


RESULTS
The case group included 3657 patients with myocardial infarction, and the control group comprised 1211 individuals with angiographically normal coronary arteries and without signs or symptoms of myocardial infarction. TaqMan assays were used for the determination of genotypes. Genotype distributions of the -397T/C and -351A/G polymorphisms were not significantly different between the control and patient groups (P> or =0.85). The frequencies of haplotypes defined by the -397T/C and -351A/G polymorphisms were similar in the control group and the patient group (P=0.42). In addition, the distributions of haplotype-defined genotypes (diplotypes) were not significantly different between the control group and the patient group (P=0.81). Separate analyses in women and men did not reveal sex-related associations of specific genotypes or haplotypes of the polymorphisms with myocardial infarction (P> or =0.25).


CONCLUSIONS
The results indicate that the -397T/C and -351A/G polymorphisms of ESR1 or haplotypes based on these polymorphisms are not associated with myocardial infarction in a white population.
Koch
Werner
W
Deutsches Herzzentrum München, Lazarettstrasse 36, 80636 Munich, Germany. wkoch@dhm.mhn.de
Hoppmann
Petra
P
Pfeufer
Arne
A
Mueller
Jakob C
JC
Schömig
Albert
A
Kastrati
Adnan
A
D000368:Aged; D017931:DNA Primers; D004198:Disease Susceptibility; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005060:Europe / Q000208:ethnology; D005260:Female; D005838:Genotype; D005858:Germany / Q000453:epidemiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009203:Myocardial Infarction / Q000453:epidemiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012016:Reference Values; D015183:Restriction Mapping; D017384:Sequence Deletion; D012907:Smoking; D044465:White People
D017931:DNA Primers; D047628:Estrogen Receptor alpha