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1.
Mult Scler ; 26(11): 1329-1339, 2020 10.
Artículo en Inglés | MEDLINE | ID: mdl-31368393

RESUMEN

BACKGROUND: Substantial progress has been made toward unraveling the genetic architecture of multiple sclerosis (MS) within populations of European ancestry, but few genetic studies have focused on Hispanic and African American populations within the United States. OBJECTIVE: We sought to test the relevance of common European MS risk variants outside of the major histocompatibility complex (n = 200) within these populations. METHODS: Genotype data were available on 2652 Hispanics (1298 with MS, 1354 controls) and 2435 African Americans (1298 with MS, 1137 controls). We conducted single variant, pathway, and cumulative genetic risk score analyses. RESULTS: We found less replication than statistical power suggested, particularly among African Americans. This could be due to limited correlation between the tested and causal variants within the sample or alternatively could indicate allelic and locus heterogeneity. Differences were observed between pathways enriched among the replicating versus all 200 variants. Although these differences should be examined in larger samples, a potential role exists for gene-environment or gene-gene interactions which alter phenotype differentially across racial and ethnic groups. Cumulative genetic risk scores were associated with MS within each study sample but showed limited diagnostic capability. CONCLUSION: These findings provide a framework for fine-mapping efforts in multi-ethnic populations of MS.


Asunto(s)
Negro o Afroamericano , Esclerosis Múltiple , Negro o Afroamericano/genética , Alelos , Variación Genética , Hispánicos o Latinos/genética , Humanos , Esclerosis Múltiple/genética , Polimorfismo de Nucleótido Simple , Estados Unidos/epidemiología
2.
J Leukoc Biol ; 59(2): 262-9, 1996 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-8603999

RESUMEN

Natural killer (NK) cells become a prominent cell population in the rodent uterus during pregnancy. The mature, heavily granulated form of these cells is rare in virgin or postpartum uteri. Death, migration, or dedifferentiation could account for the disappearance of these cells from late gestation uteri. We asked whether uterine NK cells, also known as granulated metrial gland (GMG) cells, die in situ and if expression of Fas antigen is essential for their death. Late in gestation, fragmentation of nuclear DNA was detected histologically by OH-end labeling, as were ultrastructural changes suggesting cell death. NK cells developed in and were lost from the uteri of pregnant Fas antigen-deficient lpr/lpr mice. Postpartum samples of retained placentas contained some residual NK cells that had moved from regions of uterine musculature toward the uterine lumen and were being expelled with the placenta. Thus, both cell death and placental separation remove NK cells from the peripartum uterus.


Asunto(s)
Células Asesinas Naturales/citología , Trabajo de Parto/fisiología , Preñez/fisiología , Útero/citología , Animales , Apoptosis/fisiología , Muerte Celular/fisiología , Núcleo Celular/fisiología , Femenino , Genotipo , Células Asesinas Naturales/ultraestructura , Masculino , Ratones , Ratones Endogámicos , Microscopía Electrónica , Embarazo , Útero/fisiología , Útero/ultraestructura , Receptor fas/biosíntesis , Receptor fas/fisiología
3.
Andrologia ; 23(3): 241-3, 1991.
Artículo en Inglés | MEDLINE | ID: mdl-1741490

RESUMEN

Epidermal growth factor concentrations and amounts per ejaculate were determined in 162 infertile men and in a control group of 50 pregnancy-proven fertile men. No differences were found between those groups. The group of infertile patients was divided into sub-groups according to their sperm density. EGF values in those sub-groups were not significantly different. There was no correlation between EGF concentrations and the variables of the sperm analysis that were measured. All these data suggest that EGF is not an index of gonadal function. This may be due to the fact that probably most EGF in seminal plasma is of prostatic origin.


Asunto(s)
Factor de Crecimiento Epidérmico/metabolismo , Semen/metabolismo , Túbulos Seminíferos/fisiología , Humanos , Infertilidad Masculina/metabolismo , Masculino , Radioinmunoensayo , Túbulos Seminíferos/metabolismo
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