RESUMO
The Neuregulin 3 (NRG3) gene at 10q22-q24 has been implicated in multiple psychiatric traits such as cognitive impairment. We therefore hypothesized that NRG3 gene polymorphisms may play a role in Alzheimer disease (AD). This present study explored the association of NRG3 with the age at onset (AAO) of AD and the risk of developing AD. Secondary data analysis of 257 single-nucleotide polymorphisms (SNPs) in NRG3 gene was performed in 806 Alzheimer's disease patients and 782 controls using logistic regression and linear regression analyses. Eight SNPs were associated with the risk of AD (p < 0.05), while linear regression analysis showed 33 SNPs associated with the AAO of AD (p < 0.05). Two-SNP haplotype analyses based on UNPHASED revealed that the G-C haplotype from rs17685233 and rs17101017 was significantly associated with AD (p = 0.0031) and the A-G haplotype from rs504522 and rs474018 as well as the A-G haplotype from rs504522 and rs2483295 were more significantly associated with the AAO of AD (p = 6.72 × 10(-5)). Using an independent family-based sample, we found one SNP rs11192423 associated with AAO both in the case-control sample (p = 0.0155) and in the family sample (p = 0.0166). In addition, we observed nominally significant associations with AD and AAO for several flanking SNPs (p < 0.05). This is the first study demonstrating that genetic variants in the NRG3 gene play a role in AD. Our results also revealed that SNPs in the NRG3 genes were more strongly associated with AAO of AD.
Assuntos
Doença de Alzheimer/genética , Predisposição Genética para Doença/genética , Neurregulinas/genética , Polimorfismo de Nucleotídeo Único/genética , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/epidemiologia , Estudos de Casos e Controles , Biologia Computacional , Feminino , Estudos de Associação Genética , Ligação Genética , Genótipo , Humanos , Masculino , Análise de RegressãoRESUMO
We report the case of a 39-year-old woman who presented with a pelvic mass extending into the upper abdomen. Transabdominal sonography revealed a complex left adnexal mass. Color Doppler imaging and spectral Doppler analysis showed increased vascularity with low impedance blood flow signals, suggestive of neovascularization. The patient underwent a laparotomy and a 56-kg predominantly cystic tumor was removed from the left adnexal region. The patient died 3 months later with pulmonary metastases and massive pulmonary hemorrhage. Postmortem resampling of the ovarian tumor initially diagnosed as mucinous cystadenoma showed nodular areas of malignant pleomorphic cells consistent with angiosarcoma.
