G2Cdb::Human Disease report

Disease id
D00000276
Name
Preeclampsia
Nervous system disease
no

Genes (2)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001369 HOMER1
homer homolog 1 (Drosophila)
Y (16202503) Single nucleotide polymorphism (SNP) N
G00000030 NOS1
nitric oxide synthase 1 (neuronal)
Y (12699878) Microinsertion (MI) N

References

  • Is preeclampsia associated with higher frequency of HSP70 gene polymorphisms?

    Fekete A, Vér A, Bögi K, Treszl A and Rigó J

    Research Laboratory for Pediatrics and Nephrology, Hungarian Academy of Sciences, Semmelweis University, Budapest, Hungary.

    Aim: To evaluate the possible association of three different HSP70 gene polymorphisms with preeclampsia.

    HSPA1A G(190)C, HSPA1B A(1267)G and HSPA1L T(2437)C polymorphisms were analyzed from blood samples of 72 women with preeclampsia and of 70 healthy pregnant women as controls by PCR-RFLP method.

    Results: HSPA1B (1267)GG and HSPA1L (2437)CC genotypes occurred more frequently in preeclamptic patients compared to healthy controls (p<0.002 [RR: 4.38, 95% CI: 1.56-12.28]) and (p<0.03 [RR: 1.31, 95% CI: 1.03-1.67]), respectively. Significant difference was found in the distribution of HSPA1B A(1267)G genotype between the preeclamptic and control group (p<0.004 [RR: 0.67, 95% CI: 0.51-0.88]). Distribution of HSPA1A G(190)C was similar in the preeclamptic and control group. In controls, genotype distribution of HSPA1A G(190)C and HSPA1L T(2437)C was in Hardy-Weinberg equilibrium, while this criterion was not fulfilled for HSPA1B A(1267)G.

    Conclusion: We concluded that HSPA1B (1267)GG and HSPA1L (2437)CC genotypes were more frequent among preeclamptic than control patients, suggesting that these genotypes may play a role in the susceptibility for preeclampsia.

    European journal of obstetrics, gynecology, and reproductive biology 2006;126;2;197-200

  • Endothelial nitric oxide synthase polymorphism in preeclampsia.

    Häkli T, Romppanen EL, Hiltunen M, Helisalmi S, Punnonen K and Heinonen S

    Department of Obstetrics and Gynecology, Kuopio University and University Hospital, Kuopio, Finland.

    Objective: We wished to determine whether genetic variability in the gene encoding endothelial nitric oxide synthase (eNOS) modifies individual susceptibility to the development of preeclampsia.

    Methods: The study involved 132 preeclamptic and 113 healthy control pregnant women who were genotyped for the Glu298Asp polymorphism in the eNOS gene. Chi(2) analysis was used to assess genotype and allele frequency differences between preeclamptic women and controls.

    Results: A statistically similar allelic distribution of eNOS Glu298Asp polymorphism was observed in the two groups, with the frequency of the variant G allele being 74.6% in the preeclampsia group and 67.7% in the control group (P = .091; odds ratio 1.40, 95% confidence interval 0.95, 2.01). Accordingly, the genotype distribution of the NOS polymorphism in the preeclamptic and control groups was found to be similar (P = .233).

    Conclusion: These genotype data in subjects from eastern Finland were not suggestive of an important contribution of the Glu298Asp polymorphism in the NOS gene on preeclampsia across populations. However, the observed association between the G allele and disease risk, of borderline significance, may imply that other polymorphism(s) in the gene may modify disease risk.

    Journal of the Society for Gynecologic Investigation 2003;10;3;154-7

Literature (2)

Pubmed - human_disease

  • Is preeclampsia associated with higher frequency of HSP70 gene polymorphisms?

    Fekete A, Vér A, Bögi K, Treszl A and Rigó J

    Research Laboratory for Pediatrics and Nephrology, Hungarian Academy of Sciences, Semmelweis University, Budapest, Hungary.

    Aim: To evaluate the possible association of three different HSP70 gene polymorphisms with preeclampsia.

    HSPA1A G(190)C, HSPA1B A(1267)G and HSPA1L T(2437)C polymorphisms were analyzed from blood samples of 72 women with preeclampsia and of 70 healthy pregnant women as controls by PCR-RFLP method.

    Results: HSPA1B (1267)GG and HSPA1L (2437)CC genotypes occurred more frequently in preeclamptic patients compared to healthy controls (p<0.002 [RR: 4.38, 95% CI: 1.56-12.28]) and (p<0.03 [RR: 1.31, 95% CI: 1.03-1.67]), respectively. Significant difference was found in the distribution of HSPA1B A(1267)G genotype between the preeclamptic and control group (p<0.004 [RR: 0.67, 95% CI: 0.51-0.88]). Distribution of HSPA1A G(190)C was similar in the preeclamptic and control group. In controls, genotype distribution of HSPA1A G(190)C and HSPA1L T(2437)C was in Hardy-Weinberg equilibrium, while this criterion was not fulfilled for HSPA1B A(1267)G.

    Conclusion: We concluded that HSPA1B (1267)GG and HSPA1L (2437)CC genotypes were more frequent among preeclamptic than control patients, suggesting that these genotypes may play a role in the susceptibility for preeclampsia.

    European journal of obstetrics, gynecology, and reproductive biology 2006;126;2;197-200

Pubmed - other

  • Endothelial nitric oxide synthase polymorphism in preeclampsia.

    Häkli T, Romppanen EL, Hiltunen M, Helisalmi S, Punnonen K and Heinonen S

    Department of Obstetrics and Gynecology, Kuopio University and University Hospital, Kuopio, Finland.

    Objective: We wished to determine whether genetic variability in the gene encoding endothelial nitric oxide synthase (eNOS) modifies individual susceptibility to the development of preeclampsia.

    Methods: The study involved 132 preeclamptic and 113 healthy control pregnant women who were genotyped for the Glu298Asp polymorphism in the eNOS gene. Chi(2) analysis was used to assess genotype and allele frequency differences between preeclamptic women and controls.

    Results: A statistically similar allelic distribution of eNOS Glu298Asp polymorphism was observed in the two groups, with the frequency of the variant G allele being 74.6% in the preeclampsia group and 67.7% in the control group (P = .091; odds ratio 1.40, 95% confidence interval 0.95, 2.01). Accordingly, the genotype distribution of the NOS polymorphism in the preeclamptic and control groups was found to be similar (P = .233).

    Conclusion: These genotype data in subjects from eastern Finland were not suggestive of an important contribution of the Glu298Asp polymorphism in the NOS gene on preeclampsia across populations. However, the observed association between the G allele and disease risk, of borderline significance, may imply that other polymorphism(s) in the gene may modify disease risk.

    Journal of the Society for Gynecologic Investigation 2003;10;3;154-7

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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