RESUMO
BACKGROUND: Pemphigus vulgaris (PV, OMIM 169610) is a severe blistering disorder of the skin and mucous membranes, caused by the production of autoantibodies directed against the epithelial adhesive protein desmoglein 3. Although an association between PV and HLA class II alleles has been established, the genetic factors predisposing to the disease remain poorly understood, the rarity of PV hampering the recruitment of substantial patient cohorts. OBJECTIVES: To investigate DSG3 as a candidate PV susceptibility gene. METHODS: We examined five DSG3 single nucleotide polymorphisms (rs8085532, rs3911655, rs3848485, rs3794925 and rs1466379) in two case-control datasets respectively originating from the U.K. (62 PV patients, 154 controls) and northern India (28 patients, 98 controls). RESULTS: In the U.K. sample, we observed a significant association between PV and the DSG3*TCCTC haplotype (Fisher's exact test P = 0.002). A related haplotype (DSG3*TCCCC) was associated with PV in the Indian dataset (P = 0.002). We also found that all British and Indian patients bearing DSG3 risk haplotypes carried at least one copy of a PV-associated HLA allele. CONCLUSIONS: These results suggest that genetic variation of DSG3 may be an additive risk factor predisposing to PV and warrant further investigations of this gene.
Assuntos
Desmogleína 3/genética , Pênfigo/genética , Estudos de Casos e Controles , Predisposição Genética para Doença , Genótipo , Antígenos HLA-DR/genética , Cadeias HLA-DRB1 , Haplótipos , Humanos , Desequilíbrio de Ligação , Polimorfismo de Nucleotídeo Único , Fatores de RiscoAssuntos
Mortalidade Materna , Gravidez na Adolescência , Adolescente , Adulto , Feminino , Humanos , New York , GravidezRESUMO
PIP: An epidemiological study of abortion and abortion-related mortality in New York State (exclusive of New York City) shows a pattern of continued decline in mortality over the last 20 years. There is a discussion of maternal mortality associated with the following abortion-connected circumstances: infected spontaneous abortion, spontaneous abortion incidental to primary cause of death, therapeutic abortion, elective abortion, and illegal abortion. Infection was found to be the most important factor associated with abortion-related mortality. Women over 25 died 5 times more often than the teenage group who underwent abortion. Increased length of gestation increased the risk of death. Death from illegal abortion fell substantially after 1970, the year in which a liberalized abortion law was passed in New York.^ieng