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1.
Rev Bras Enferm ; 71 Suppl 2: 884-892, 2018.
Article in Portuguese, English | MEDLINE | ID: mdl-29791642

ABSTRACT

OBJECTIVE: To identify evidences in scientific Brazilian literature on nursing care to aged people with HIV. METHOD: Integrative review of literature from databases: Latin American and Caribbean Literature on Health Sciences (LILACS), Scientific Eletronic Library Online (SciELO), Cochrane and the Nursing Database (BDENF). The applied inclusion criteria were publications that were fully available from 2001 to 2015 and answered to the guiding question of this study. RESULTS: We included 13 studies; and the categories that allowed a better presentation of the scientific evidence on nursing care to aged people with HIV carrier were: Epidemiological profile, perceptions and experiences of aged people with HIV and nursing care to aged people with HIV. CONCLUSION: The studies address nursing care from a clinic that follows NANDA diagnoses of strong individualizing approach and low consideration of social aspects.


Subject(s)
HIV Infections/nursing , Nursing Care/methods , Aged , Aged, 80 and over , Brazil , Female , Humans , Male , Middle Aged , Nursing Care/trends
3.
Rev. bras. enferm ; 71(supl.2): 884-892, 2018. tab, graf
Article in English | LILACS, BDENF - Nursing | ID: biblio-898548

ABSTRACT

ABSTRACT Objective: To identify evidences in scientific Brazilian literature on nursing care to aged people with HIV. Method: Integrative review of literature from databases: Latin American and Caribbean Literature on Health Sciences (LILACS), Scientific Eletronic Library Online (SciELO), Cochrane and the Nursing Database (BDENF). The applied inclusion criteria were publications that were fully available from 2001 to 2015 and answered to the guiding question of this study. Results: We included 13 studies; and the categories that allowed a better presentation of the scientific evidence on nursing care to aged people with HIV carrier were: Epidemiological profile, perceptions and experiences of aged people with HIV and nursing care to aged people with HIV. Conclusion: The studies address nursing care from a clinic that follows NANDA diagnoses of strong individualizing approach and low consideration of social aspects.


RESUMEN Objetivo: Identificar en la literatura brasileña las evidencias científicas sobre la asistencia de enfermería al anciano portador del VIH. Método: Revisión integrativa de la literatura, realizada en las bases de datos: Literatura Latinoamericana y del Caribe en Ciencias de la Salud (LILACS), Scientific Eletronic Library Online (SciELO), Cochrane y la Base de Datos en enfermería (BDENF). Los criterios de inclusión aplicados fueron las publicaciones que estuvieron disponibles en la versión completa, en el período de 2001 a 2015, y que respondiera la cuestión orientadora del estudio. Resultados: Fueron incluidos 13 estudios; y las categorías que permitieron una mejor presentación de las evidencias científicas sobre la asistencia de enfermería al anciano portador del VIH, fueron: El Perfil epidemiológico, las percepciones y las vivencias de los ancianos portadores de VIH y la Asistencia de enfermería delante el anciano seropositivo. Conclusión: Los estudios abordan la asistencia de enfermería todavía a través de una clínica basada en los diagnósticos de NANDA con fuerte abordaje individualizante y baja consideración de los aspectos sociales.


RESUMO Objetivo: Identificar na literatura brasileira as evidências científicas sobre a assistência de enfermagem ao idoso portador do HIV. Método: Revisão integrativa da literatura, realizada nas bases de dados: Literatura Latino-Americana e do Caribe em Ciências da Saúde (LILACS), Scientific Eletronic Library Online (SciELO), Cochrane e a Base de Dados em Enfermagem (BDENF). Os critérios de inclusão aplicados foram publicações que estivessem disponíveis na íntegra, no período de 2001 a 2015, e que respondesse a questão norteadora do estudo. Resultados: Foram incluídos 13 estudos; e as categorias que permitiram uma melhor apresentação das evidências científicas sobre a assistência de enfermagem ao idoso portador do HIV, foram: Perfil epidemiológico, percepções e vivências dos idosos portadores de HIV e Assistência de enfermagem frente ao idoso soropositivo. Conclusão: Os estudos abordam a assistência de enfermagem ainda através de uma clínica baseada nos diagnósticos da NANDA com forte abordagem individualizante e baixa consideração dos aspectos sociais.


Subject(s)
Humans , Male , Female , Aged , Aged, 80 and over , HIV Infections/nursing , Nursing Care/methods , Brazil , Middle Aged , Nursing Care/trends
4.
Genet Test Mol Biomarkers ; 21(5): 328-333, 2017 May.
Article in English | MEDLINE | ID: mdl-28410456

ABSTRACT

AIMS: Polymorphisms in the gene encoding bone morphogenetic protein 15 (BMP15) can result in inhibited secretion or lowered bioactivity of the BMP15 protein. BMP15 levels are associated with follicle-stimulating hormone receptor (FSHR) action on granulosa cells, wherein FSHR increases the sensitivity of ovarian follicles to follicle-stimulating hormone (FSH). In this study we evaluated the BMP15 polymorphisms A905 > G/rs3897937, C901 > T/rs17003221, and C-9 > G/rs3810682 in infertile Brazilian women in terms of anti-Mullerian hormone (AMH), FSH, and estradiol serum levels, as well as controlled ovarian hyperstimulation response and assisted reproduction outcomes. METHODS: A cross-sectional study comprising 186 infertile women who underwent the first cycle of high complexity assisted reproduction treatment was conducted using the TaqMan assay for quantitative polymerase chain reaction genotyping. Serum AMH, FSH, and estradiol levels were measured by enzyme-linked immunosorbent assay. RESULTS: For C901 > T (rs17003221) carriers, there was a statistically significant difference among carriers of a polymorphic BMP15 genotype (TT) and the estradiol concentration. These women had higher estradiol levels than women who had homozygous wild type or heterozygous genotypes. There was also a positive correlation between serum AMH and the C-9 > G (rs3810682) polymorphism, wherein women carrying both polymorphic alleles (homozygous, GG) had higher average AMH levels than heterozygous women. However, none of the three polymorphisms studied showed a statistically significant correlation with assisted reproduction outcome. DISCUSSION: Oocytes are known to secrete factors that regulate follicular development and oocyte maturation. Abnormal expression of these factors may thus be involved in follicular development disorders. A recent study highlighted the importance of BMP15 in regulating ovulation rates in sheep and that heterozygous deletions in the -9C > G polymorphism reduced BMP15 concentrations, increased granulosa cell FHSR mRNA levels, elevated estrogen secretion, and activated production of stem cell factors. In this study we found that BMP15 polymorphisms affected estrogen and AMH levels. CONCLUSION: BMP15 polymorphisms are not correlated with ovarian stimulation and assisted reproduction outcomes in infertile Brazilian women.


Subject(s)
Bone Morphogenetic Protein 15/genetics , Infertility, Female/genetics , Adult , Alleles , Anti-Mullerian Hormone/blood , Brazil , Cross-Sectional Studies , Enzyme-Linked Immunosorbent Assay , Estradiol/blood , Female , Follicle Stimulating Hormone/blood , Gene Frequency/genetics , Humans , Ovulation Induction/methods , Ovulation Prediction/methods , Polymorphism, Single Nucleotide
5.
Einstein (Säo Paulo) ; 14(4): 534-540, Oct.-Dec. 2016. tab
Article in English | LILACS | ID: biblio-840281

ABSTRACT

ABSTRACT Objective To evaluate the incidence of Y-chromosome microdeletions in individuals born from vasectomized fathers who underwent vasectomy reversal or in vitro fertilization with sperm retrieval by epididymal aspiration (percutaneous epididymal sperm aspiration). Methods A case-control study comprising male children of couples in which the man had been previously vasectomized and chose vasectomy reversal (n=31) or in vitro fertilization with sperm retrieval by percutaneous epididymal sperm aspiration (n=30) to conceive new children, and a Control Group of male children of fertile men who had programmed vasectomies (n=60). Y-chromosome microdeletions research was performed by polymerase chain reaction on fathers and children, evaluating 20 regions of the chromosome. Results The results showed no Y-chromosome microdeletions in any of the studied subjects. The incidence of Y-chromosome microdeletions in individuals born from vasectomized fathers who underwent vasectomy reversal or in vitro fertilization with spermatozoa recovered by percutaneous epididymal sperm aspiration did not differ between the groups, and there was no difference between control subjects born from natural pregnancies or population incidence in fertile men. Conclusion We found no association considering microdeletions in the azoospermia factor region of the Y chromosome and assisted reproduction. We also found no correlation between these Y-chromosome microdeletions and vasectomies, which suggests that the assisted reproduction techniques do not increase the incidence of Y-chromosome microdeletions.


RESUMO Objetivo Avaliar a incidência de microdeleções do cromossomo Y em indivíduos nascidos de pais vasectomizados submetidos à reversão de vasectomia ou fertilização in vitro com recuperação de espermatozoides por aspiração do epidídimo (aspiração percutânea de espermatozoides do epidídimo). Métodos Estudo caso-controle que compreende crianças do sexo masculino de casais em que o homem havia sido previamente vasectomizado e escolheu reversão da vasectomia (n=31) ou fertilização in vitro com recuperação espermática por aspiração percutânea de espermatozoides do epidídimo (n=30) para obtenção de novos filhos, e um Grupo Controle de crianças do sexo masculino de homens férteis com vasectomia programada (n=60). A pesquisa de microdeleções do cromossomo Y foi realizada por reação em cadeia da polimerase nos pais e filhos, avaliando 20 regiões do cromossomo. Resultados O resultado não revelou microdeleções do cromossomo Y em qualquer indivíduo estudado. A incidência de microdeleções do cromossomo Y em indivíduos nascidos de pais vasectomizados que sofreram reversão de vasectomia ou fertilização in vitro com espermatozoides recuperados pela aspiração percutânea de espermatozoides do epidídimo não diferiu entre os grupos, e não houve nenhuma diferença entre indivíduos controle nascidos de gestações naturais ou incidência populacional em homens férteis. Conclusão Não foi encontrada nenhuma associação considerando microdeleções da região do fator de azoospermia no cromossomo Y e reprodução assistida. Não houve correlação entre microdeleções do cromossomo Y e vasectomia, o que sugere que as técnicas de reprodução assistida não aumentam a incidência de microdeleções do cromossomo Y.


Subject(s)
Humans , Male , Female , Adult , Aged, 80 and over , Vasovasostomy/adverse effects , Fertilization in Vitro , Sperm Retrieval , Sex Chromosome Disorders of Sex Development/epidemiology , Infertility, Male/epidemiology , Sex Chromosome Aberrations , Brazil/epidemiology , Case-Control Studies , Incidence , Chromosome Deletion , Sperm Injections, Intracytoplasmic , Chromosomes, Human, Y/genetics , Azoospermia/genetics , Fathers , Sex Chromosome Disorders of Sex Development/genetics , Infertility, Male/genetics
6.
Einstein (Sao Paulo) ; 14(4): 534-540, 2016.
Article in English, Portuguese | MEDLINE | ID: mdl-28076602

ABSTRACT

OBJECTIVE: To evaluate the incidence of Y-chromosome microdeletions in individuals born from vasectomized fathers who underwent vasectomy reversal or in vitro fertilization with sperm retrieval by epididymal aspiration (percutaneous epididymal sperm aspiration). METHODS: A case-control study comprising male children of couples in which the man had been previously vasectomized and chose vasectomy reversal (n=31) or in vitro fertilization with sperm retrieval by percutaneous epididymal sperm aspiration (n=30) to conceive new children, and a Control Group of male children of fertile men who had programmed vasectomies (n=60). Y-chromosome microdeletions research was performed by polymerase chain reaction on fathers and children, evaluating 20 regions of the chromosome. RESULTS: The results showed no Y-chromosome microdeletions in any of the studied subjects. The incidence of Y-chromosome microdeletions in individuals born from vasectomized fathers who underwent vasectomy reversal or in vitro fertilization with spermatozoa recovered by percutaneous epididymal sperm aspiration did not differ between the groups, and there was no difference between control subjects born from natural pregnancies or population incidence in fertile men. CONCLUSION: We found no association considering microdeletions in the azoospermia factor region of the Y chromosome and assisted reproduction. We also found no correlation between these Y-chromosome microdeletions and vasectomies, which suggests that the assisted reproduction techniques do not increase the incidence of Y-chromosome microdeletions. OBJETIVO: Avaliar a incidência de microdeleções do cromossomo Y em indivíduos nascidos de pais vasectomizados submetidos à reversão de vasectomia ou fertilização in vitro com recuperação de espermatozoides por aspiração do epidídimo (aspiração percutânea de espermatozoides do epidídimo). MÉTODOS: Estudo caso-controle que compreende crianças do sexo masculino de casais em que o homem havia sido previamente vasectomizado e escolheu reversão da vasectomia (n=31) ou fertilização in vitro com recuperação espermática por aspiração percutânea de espermatozoides do epidídimo (n=30) para obtenção de novos filhos, e um Grupo Controle de crianças do sexo masculino de homens férteis com vasectomia programada (n=60). A pesquisa de microdeleções do cromossomo Y foi realizada por reação em cadeia da polimerase nos pais e filhos, avaliando 20 regiões do cromossomo. RESULTADOS: O resultado não revelou microdeleções do cromossomo Y em qualquer indivíduo estudado. A incidência de microdeleções do cromossomo Y em indivíduos nascidos de pais vasectomizados que sofreram reversão de vasectomia ou fertilização in vitro com espermatozoides recuperados pela aspiração percutânea de espermatozoides do epidídimo não diferiu entre os grupos, e não houve nenhuma diferença entre indivíduos controle nascidos de gestações naturais ou incidência populacional em homens férteis. CONCLUSÃO: Não foi encontrada nenhuma associação considerando microdeleções da região do fator de azoospermia no cromossomo Y e reprodução assistida. Não houve correlação entre microdeleções do cromossomo Y e vasectomia, o que sugere que as técnicas de reprodução assistida não aumentam a incidência de microdeleções do cromossomo Y.


Subject(s)
Fertilization in Vitro , Infertility, Male/epidemiology , Sex Chromosome Disorders of Sex Development/epidemiology , Sperm Retrieval , Vasovasostomy/adverse effects , Adult , Azoospermia/genetics , Brazil/epidemiology , Case-Control Studies , Chromosome Deletion , Chromosomes, Human, Y/genetics , Fathers , Female , Humans , Incidence , Infertility, Male/genetics , Male , Middle Aged , Sex Chromosome Aberrations , Sex Chromosome Disorders of Sex Development/genetics , Sperm Injections, Intracytoplasmic
7.
Arch Gynecol Obstet ; 293(1): 109-115, 2016 Jan.
Article in English | MEDLINE | ID: mdl-26153366

ABSTRACT

OBJECTIVE: To evaluate the frequency of polymorphism G-765C (rs20417) of the COX-2 gene and the expression of this gene in the endometrium of women with endometriosis. STUDY DESIGN: This is a case-control study of 365 women with endometriosis (251 infertile and 114 fertile) submitted to laparoscopy/laparotomy with histological confirmation of endometriosis. The control group was composed of 522 fertile women without endometriosis. Of these, 37 patients from the endometriosis group and 47 from the control group were submitted to biopsy of the endometrium for analysis of the expression of the COX-2 gene. The genotypes were determined using analysis by High-Resolution Melt. Gene expression was measured by qRT-PCR with TaqMan methodology using the GAPDH gene as normalizer of the reactions. RESULTS: The distribution of the genotypes and alleles in the group of fertile women with moderate/severe endometriosis showed a statistically significant difference, demonstrating association of the ancestral allele, -765G, with increased risk of endometriosis (p = 0.028; OR 0.53; CI 0.32-0.90). The mean expression of the COX-2 gene (mRNA PTGS2) in the group of women with endometriosis was statistically higher compared to the control group (3.85 versus 2.84, p = 0.028). CONCLUSION: The present study identified that in Brazilian women the presence of the ancestral allele, -765G, of the COX-2 gene is associated with an increased risk for development of moderate/severe endometriosis associated with fertility, and that the eutopic endometrium of women with endometriosis showed increased expression of COX-2 when compared to the control group.


Subject(s)
Cyclooxygenase 2/genetics , Endometriosis/genetics , Endometrium/metabolism , Gene Expression , Polymorphism, Genetic , Promoter Regions, Genetic , Adult , Alleles , Biopsy , Brazil/epidemiology , Case-Control Studies , Cyclooxygenase 2/metabolism , Endometriosis/ethnology , Endometriosis/pathology , Endometrium/pathology , Female , Genotype , Humans , Infertility, Female/etiology , RNA, Messenger/genetics , RNA, Messenger/metabolism , Reverse Transcriptase Polymerase Chain Reaction , Risk
8.
Arch Med Res ; 45(1): 31-5, 2014 Jan.
Article in English | MEDLINE | ID: mdl-24321595

ABSTRACT

BACKGROUND AND AIMS: Considering the complex cellular and molecular mechanisms involved in endometriosis formation and progression and the similarities concerning the association of endometriosis with tumorigenesis and metastasis, we hypothesized a possible relationship between telomerase and the development/progression of endometriosis. The present study aimed to evaluate the expression of telomerase in the endometrium and peritoneal endometriotic lesions from women with endometriosis and controls. METHODS: A case-control study was performed comprising 25 infertile women with endometriosis and 44 fertile women without endometriosis as controls. Samples of endometrium and endometriotic peritoneal lesions of the same patient were harvested in the late luteal phase of the cycle. The expression of hTERT and GAPDH genes was measured by mRNA using qRT-PCR based on TaqMan methodology. Student t test was used to compare the values between the groups; p >0.05 was accepted as statistically significant. RESULTS: The mean expression of hTERT in the endometriosis group was significantly high when compared to the control group (1.24 ± 4.67 vs. 0.31 ± 1.10, p = 0.026). When the expression of hTERT was compared in relation to disease stage, the group of moderate/severe endometriosis showed increased expression in relation to control group (2.59 ± 7.35 vs. 0.31 ± 1.10, p = 0.026). Regarding endometriotic peritoneal lesions, only one 1/25 expressed hTERT mRNA. This patient had deep endometriosis. CONCLUSIONS: There was an association between the expression of telomerase (hTERT mRNA) and the genesis and progression of endometriosis.


Subject(s)
Endometriosis/metabolism , Endometrium/metabolism , Infertility, Female/metabolism , Telomerase/metabolism , Adult , Case-Control Studies , Endometriosis/complications , Endometriosis/pathology , Endometrium/pathology , Female , Humans , Infertility, Female/complications , Infertility, Female/pathology , RNA, Messenger/metabolism , Telomerase/genetics
9.
Reprod Health ; 10: 32, 2013 Jun 22.
Article in English | MEDLINE | ID: mdl-23799909

ABSTRACT

BACKGROUND: Endometriosis is a chronic condition whose pathophysiology is unknown, but there is evidence suggesting a link with oxidative stress. Paraoxonase is a serum enzyme which circulates associated with high-density lipoprotein (HDL). It acts protecting HDL and LDL of lipid peroxidation. We aimed to compare the serum levels of PON-1 activity in women with endometriosis in different stages of the disease (minimal/mild and moderate/severe). METHODS: 80 infertile women with endometriosis diagnosed by laparoscopy/laparotomy with histologic confirmation of the disease were divided according to the American Society for Reproductive Medicine classification in minimal/mild (n = 33) and moderate/severe (n = 47) cases. Paraoxonase activity and arilesterase activity were measured by spectrophotometry. Body mass index and fasting glucose levels were also determined. RESULTS: The paraoxonase activity were 191.29 ± 22.41 U/l in women with minimal/mild endometriosis and 224.85 ± 21.50 U/l in women with moderate/severe disease (P = 0.274). Considering arilesterase level, the results showed 89.82 ± 4.61 U/l in women with minimal/mild endometriosis and 90.78 ± 3.43 U/l in moderate/severe disease (P = 0.888). CONCLUSIONS: Evidence of lower paraoxonase activity in women with endometriosis was not found in this study. Besides, no difference was found considering minimal/mild or moderate/severe endometriosis.


Subject(s)
Aryldialkylphosphatase/blood , Endometriosis/blood , Adult , Endometriosis/complications , Endometriosis/pathology , Female , Humans , Infertility, Female/complications , Oxidative Stress
10.
Gene ; 519(1): 13-7, 2013 Apr 25.
Article in English | MEDLINE | ID: mdl-23419608

ABSTRACT

PURPOSE: In recent years, considerable concern has been expressed about the deleterious effects of reactive oxygen species (ROS) on sperm function, because ROS at high levels is potentially detrimental to sperm function and quality. Nitric oxide (NO) is a powerful anti-oxidant present in seminal plasma. The aim of the study was to analyze the distribution of the of endothelial nitric oxide synthase (eNOS) gene (T-786C, G894T, e 4a/b) polymorphisms in idiopathic infertile Brazilian men and evaluate the possible role of these polymorphisms in sperm count. METHODS: A case-control study was performed comprising 208 infertile men [n=74 with non-obstructive azoospermia and n=134 with severe oligozoospermia] and 201 fertile men as controls. Genotyping of eNOS polymorphisms was performed by real time (T-786C and G894T) and conventional PCR (4a/b). The results were analyzed statistically and a p-value<0.05 was considered significant. RESULTS: According to the sperm count, relatively similar eNOS polymorphism genotypes and allele frequencies were found among the groups. Combined genotypes of the eNOS polymorphisms did not identify a haplotype associated with idiopathic infertility, even when the patients were separated in non-obstructive azoospermia or severe oligozoospermia. CONCLUSION: In conclusion, the findings demonstrate that, in Brazilian population studied, genetic variations, T-786C, G894T, and e 4a/b, of the eNOS gene are not associated with male infertility.


Subject(s)
Azoospermia/genetics , Infertility, Male/genetics , Nitric Oxide Synthase Type III/genetics , Oligospermia/genetics , Adult , Aged , Azoospermia/epidemiology , Brazil/epidemiology , Case-Control Studies , Gene Frequency , Genetic Predisposition to Disease , Haplotypes , Humans , Male , Middle Aged , Nitric Oxide Synthase Type III/metabolism , Oligospermia/epidemiology , Polymorphism, Single Nucleotide
11.
Hum Immunol ; 74(1): 93-7, 2013 Jan.
Article in English | MEDLINE | ID: mdl-23000200

ABSTRACT

INTRODUCTION: Tyrosine kinase 2 gene (TYK2) is part of the janus kinase (JAK) that binds to the type I interferon-α receptor (IFNAR) on the cell surface of IFN-producing cells, and have crucial importance in the etiology of autoimmune and inflammatory diseases. Many polymorphisms of the TYK2 gene have been identified, and recently, a number of case-control studies were conducted to investigate the association of these polymorphisms with autoimmune and inflammatory diseases, with conflicting results. Based on these observations, we hypothesized that the TYK2 polymorphisms (rs34536443, rs2304256, rs280523, rs12720270 and rs12720356) might be involved in the pathogenesis of endometriosis and/or infertility. METHODS: Genetic association study comprising 275 infertile women with endometriosis, 92 women with idiopathic infertility and 307 fertile women as controls. TYK2 polymorphisms were identified by TaqMan PCR. Genotype distribution, allele frequency and haplotype analysis of the TYK2 polymorphisms were performed. A p-value <0.05 was considered significant. RESULTS: Single-marker analysis revealed that TYK2 rs34536443 was significantly associated with protection against endometriosis-related infertility, especially in moderate/severe disease (p = 0.002; OR = 0.24, 95% IC = 0.09-0.62). No difference was found considering the infertile group without endometriosis. No associations were found considering rs2304256, rs280523, rs12720270 and rs12720356 either for endometriosis-related infertility group or idiopathic infertility group. Haplotype analysis of five TYK2 polymorphisms identified a haplotype "CTATG" associated with protection against endometriosis-related infertility, especially in moderate/severe disease (p = 0.027). CONCLUSION: This is the first study to report an association between TYK2 polymorphisms and endometriosis and/or infertility. These findings require replication in other populations but suggest the TYK2 rs34536443 polymorphisms and "CTATG" haplotype can be associated with a decreased susceptibility to endometriosis-related infertility in Brazilian women.


Subject(s)
Endometriosis/genetics , Infertility, Female/genetics , Polymorphism, Single Nucleotide , TYK2 Kinase/genetics , Adult , Alleles , Brazil , Case-Control Studies , Endometriosis/pathology , Female , Gene Frequency , Genetic Predisposition to Disease , Haplotypes , Humans , Infertility, Female/pathology , Middle Aged , Severity of Illness Index
12.
Hum Immunol ; 73(11): 1190-3, 2012 Nov.
Article in English | MEDLINE | ID: mdl-22902396

ABSTRACT

INTRODUCTION: An aberrant immunologic mechanism has been suggested to be involved in the pathogenesis of endometriosis. Nuclear factor-kB (NF-kB) plays a key role in the immune and inflammatory response and modulates cell proliferation, apoptosis, adhesion, invasion, and angiogenesis in many cell types involved in the development of endometriosis. We hypothesized a possible relationship between the NFKB1 promoter regulatory polymorphism and endometriosis and/or infertility. METHODS: A genetic association study comprising 172 infertile women with endometriosis, 77 women with idiopathic infertility and 189 controls was performed. Detection of the -94 insertion/deletion ATTG (rs28362491) polymorphism in the NFKB1 gene was done using the RFLP-PCR (Restriction Fragment Length Polymorphism-Polymerase Chain Reaction) technique. The results were statistically analyzed, and a p-value <0.05 was considered significant. RESULTS: Single-marker analysis revealed a significant association between the -94 insertion/deletion ATTG polymorphism and endometriosis-related infertility (p=0.014, OR=1.47, 95% CI=1.09-1.97), especially in moderate/severe disease cases. Considering the idiopathic infertility group, a significant association was also found (p=<0.001, OR=2.01, 95% CI=1.35-2.98), suggesting that the -94 insertion/deletion ATTG polymorphism is associated with endometriosis and/or infertility. CONCLUSION: In the population sample studied, the -94 insertion/deletion ATTG polymorphism in the NFKB1 gene was positively associated both with moderate/severe endometriosis and idiopathic infertility.


Subject(s)
Endometriosis/genetics , Genetic Predisposition to Disease , Infertility, Female/genetics , NF-kappa B p50 Subunit/genetics , Polymorphism, Single Nucleotide , Promoter Regions, Genetic , Adult , Alleles , Female , Genotype , Humans
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