To examine whether the distribution of genotypic and allelic frequencies of ICAM-1 K469 of Korean women with preeclampsia are different from that of a control group.
In this case-control study the ...ICAM-1 K469E polymorphism was genotyped in 42 women with preeclampsia and 138 normotensive controls who had delivered at least two normal, term infants. A direct sequencing reaction method was used to detect a single nucleotide polymorphism.
The distribution of genotype frequencies and the frequency of the K469 allele of the preeclampsia group were not significantly different from those of the controls. A similar trend was observed between the severe preeclampsia patients and the controls.
The frequencies of the KK genotype and the K allele were higher in the preeclampsia group than those in the control group. However, there was no statistically significant difference.
Molecular epidemiologic studies suggest genetic factors in the etiology of smoking behavior. Dopamine receptor genes, transporter genes (serotonin and dopamine), and other genes related to metabolism ...of nicotine are plausible functional candidate genes. Research examining the role of allelic variation in those genes is being actively pursued with respect to nicotine dependence as well as personality char-acteristics and mental disorders. Some of these genes were reported to be connected with schizophrenia. Although nicotine dependence itself is one of the mental disorders according to the fourth edition of Diagnostic and Statistical Manual of Mental Disorders and the World Health Organization's International Statistical Classification of Diseases and Related Health Problems-10 nomenclature, the high comor-bidity between nicotine dependence and other mental disorders such as schizophrenia or affective disorders has been noted. Therefore, the relationship between those mental disorders and tobacco addiction should be cleared up considering the interactive effect of genetic and environmental factors. J Epidemiol 2003;13:183-192.
A common polymorphism (T/t) in the gene encoding the methylenetetrahydrofolate reductase (MTHFR) enzyme has been associated with elevated serum homocysteine, itself a risk factor for stroke. Some ...studies have reported an association with ischemic heart disease, but no published studies have examined its relationship with stroke.
We determined the TT genotype frequency and T allele frequency in 345 patients with ischemic cerebrovascular disease (CVD) and 161 control subjects. In a subgroup we also determined serum homocysteine and folate concentrations.
In the patient group there was a significant relationship between TT genotype and homocysteine concentration after we controlled for other risk factors. Controlling for serum folate weakened this relationship, and folate itself was independently related to serum homocysteine. There was no difference between patients and control subjects in either TT genotype frequency (10.7% versus 13.7%; P = .34) or T allele frequency (0.68 versus 0.67; P = .67). There was no association when analysis was limited to individuals deficient in folate (serum folate < 25th centile) or to younger individuals (< 65 years). There was no association between TT genotype and any stroke subtype or with degree of carotid stenosis.
In patients with CVD we confirmed a relationship between the MTHFR genotype and serum homocysteine concentration and an interaction with serum folate concentration. We found no association between CVD and genotype. However, the interaction with serum folate suggests that the genotype could still be a risk factor in populations with a low folic acid intake.
Background and purpose
Protein Z (PZ), a vitamin Kdependent protein, plays a role in inhibiting coagulation. Its plasma level or PZ gene polymorphisms have been discussed as risk factors for stroke ...with conflicting results reported between various studies. Only one of these polymorphisms was studied in a cohort of patients suffering from cerebral venous thrombosis (CVT).
Methods
We performed a retrospective genetic study comparing 100 healthy controls to 54 patients referred to our hemostasis unit after CVT occurrence. We compared the distribution of three PZ gene polymorphisms that may influence PZ plasma levels:
A-13G
in the promoter and
G79A
in intron F were tested using previously described techniques, and we developed a technique to evaluate the
G-103A
in intron A.
Results
The
G79A
polymorphism was significantly more frequent in patients than in controls (p = 0.012): the presence of at least one A allele led to an odds ratio of 2.57 with a 95 % confidence interval of 1.23–5.34. The
A-13G
polymorphism also showed a nonsignificant trend towards a higher prevalence in patients.
Conclusion
The
G79A
polymorphism of the PZ gene was shown to be a new independent risk factor for cerebral venous thrombosis. Nevertheless, these results have to be confirmed by a prospective study including plasma PZ evaluation.
Intracranial aneurysm, which underlies the vast majority of subarachnoid hemorrhage incidences, has a multifactorial etiology, and the importance of genetic factors is increasingly recognized. ...Development and rupture of intracranial aneurysms involve degradation and remodeling of the vascular wall matrix in which the matrix metalloproteinases (MMPs) play an important role. The possible impact of MMP gene polymorphisms on susceptibility to intracranial aneurysms is still controversial, with conflicting data from different reported studies.
In this study we analyzed 5 different functional promoter polymorphisms in the MMP-1, MMP-3, MMP-9, and MMP-12 genes in a sample of 92 patients with aneurysmal subarachnoid hemorrhage and 158 healthy control subjects, all from southern England.
No significant difference was detected between the patient and control groups in genotype distribution of any of the polymorphisms studied.
The data do not support the hypothesis that MMP gene variations influence the development of intracranial aneurysms in the population studied.
The
SRD5A2 gene codes the steroid 5-reductase type II, a critical mediator of androgen action, and the
V89L and
A49T polymorphisms of this gene may be associated with a distinct enzyme activity. We ...explored the association among these polymorphisms and the risk of prostate cancer or benign prostatic hyperplasia (BPH) in a Japanese population.
This study included 302 patients with prostate cancer, 228 with BPH and 243 male controls.
V89L and
A49T polymorphisms were analyzed by the polymerase chain reaction restriction fragment length polymorphism method. Genotypes were evaluated by electrophoresis on agarose gel.
For the
V89L polymorphism there were no significant differences in genotype frequencies in patients with prostate cancer and controls (p = 0.071) or in patients with BPH and male controls (p = 0.219). However, males with the
VV or
VL genotype were at significantly increased risk for prostate cancer compared with those with the
LL genotype (adjusted OR 1.69, 95% CI 1.07 to 2.65, p = 0.024). The risk of BPH in males with the
VV or
VL genotype was not significantly elevated in comparison with those with the
LL genotype (adjusted OR 1.37, 95% CI 0.85 to 2.20, p = 0.194). The
V89L variant was not associated with the grade or stage of prostate cancer, or with patient age. For the
A49T polymorphism all subjects had the
AA genotype.
The
V allele of the
V89L polymorphism in the
SRD5A2 gene may dominantly increase the risk of prostate cancer.
Although genes play a major role in the etiology of schizophrenia, no major genes involved in this disease have been identified. However, several genes with small effect have been reported, though ...inconsistently, to increase the risk for schizophrenia. Recently, the 5HT2A 2 allele (T102C polymorphism) was reported to be over-represented in patients with schizophrenia. Other reports have found an excess of allele 2(C) only in schizophrenic patients who are resistant to clozapine, not in those who respond to clozapine. In this study, the 5HT2A receptor allele 2 frequencies were compared between 2 groups of patients with schizophrenia (39 responders and 63 nonresponders) based on long-term outcome and response to typical neuroleptics. A control group of 90 healthy volunteers screened for mental disorders was also included. Genotype 2/2 tended to be more frequent in patients with schizophrenia with poor long-term outcome and poor response to typical neuroleptics (Bonferroni corrected p = 0.09). This difference was significant in men (Bonferroni corrected p = 0.054) but not in women. In addition, the age at first contact with psychiatric care was significantly younger in the patients with schizophrenia with genotype 2/2 than in patients with genotype 1/1. These result suggest that the 5HT2A-receptor gene may play a role in a subset of schizophrenia characterized by poor long-term outcome and poor response to neuroleptics.
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