Estimativa do custo de produção de algodão, safra 2004/05, para Mato Grosso do Sul e Mato Grosso.

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Myocilin Mt.1 Gene Promoter Single Nucleotide Polymorphism (-1000c>g) In Brazilian Patients With Primary Open Angle Glaucoma

Background: The myocilin (MYOC) gene promoter polymorphism -1000C>G (MYOC mt.1) can be associated with faster progression of primary open angle glaucoma (POAG). The purpose of this study was to investigate the MYOC mt.1 in Brazilian patients with POAG and to evaluate its possible role on the phenotype and the severity of the disease. Material and methods: One hundred sixty-seven POAG patients and 130 normal controls were enrolled. DNA samples were prepared and the MYOC mt.1 polymorphism was screened by real-time polymerase chain reaction (RT - PCR) in an Single-nucleotide polymorphism (SNP) assay. Frequencies of the MYOC mt.1 promoter polymorphism were determined for both groups and compared by Fisher's exact test and Chi-square test with Yate's correction. Intraocular pressure (IOP), cup-to-disc ratio (C/D), number of glaucoma medications, and number of glaucoma surgeries were compared between MYOC mt.1 carriers and non-carriers. Results: MYOC mt.1 genotype frequencies did not differ between POAG and controls (P = 0.420); 14.6% of controls and 16.4% of POAG patients were MYOC mt.1 carriers (CG or GG). Frequencies of the G allele were similar between glaucomatous patients and controls (7.3% and 9.2%, respectively; P = 0.477). Among POAG patients, there were no differences in mean C/D ratio, IOP, number of glaucoma medications, and surgical procedures for IOP control between carries and non-carriers of the MYOC mt.1 promoter polymorphism (p>0.05). Conclusion: The G allele of the MYOC mt.1 promoter polymorphism was equally distributed among POAG patients and healthy subjects and it is possibly unrelated to the risk and severity of disease in the Brazilian population. © 2011 Informa Healthcare USA, Inc.3211823Quigley, H.A., Broman, T.A., The number of people with glaucoma worldwide in 2010 and 2020 (2006) Br J Ophthalmol, 90, pp. 262-267Leske, M.C., Connel, A.M.S., Wu, S.Y., Risk factors for openangle glaucoma: The Barbados eye study (1995) Arch Ophthalmol, 113, pp. 918-924Wolfs, R.C.W., Klaver, C.C.W., Ramrattan, R.S., Genetic risk of primary open-angle glaucoma (1998) Arch Ophthalmol, 116, pp. 1640-1645Mitchell, P., Cumming, R.G., Mackey, D.A., Inhaled corticosteroids, family history, and risk of glaucoma (1999) Ophthalmology, 106 (12), pp. 2301-2306Stone, E.M., Fingert, J.H., Alward, W.L.M., Nguyen, T.D., Polansky, J.R., Sunden, S.L.F., Nishimura, D., Sheffield, V.C., Identification of a gene that causes primary open angle glaucoma (1997) Science, 275 (5300), pp. 668-670. , DOI 10.1126/science.275.5300.668Kubota, R., Noda, S., Wang, Y., Minoshima, S., Asakawa, S., Kudoh, J., Mashima, Y., Shimizu, N., A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: Molecular cloning, tissue expression, and chromosomal mapping (1997) Genomics, 41 (3), pp. 360-369. , DOI 10.1006/geno.1997.4682Kirstein, L., Cvekl, A., Chauhan, B.K., Tamm, E.R., Regulation of human myocilin/TIGR gene transcription in trabecular meshwork cells and astrocytes: Role of upstream stimulatory factor (2000) Genes to Cells, 5 (8), pp. 661-676. , DOI 10.1046/j.1365-2443.2000.00355.xGould, D.B., Reedy, M., Wilson, L.A., Smith, R.S., Johnson, R.L., John, S.W.M., Mutant myocilin nonsecretion in vivo is not sufficient to cause glaucoma (2006) Molecular and Cellular Biology, 26 (22), pp. 8427-8436. , DOI 10.1128/MCB.01127-06Colomb, E., Nguyen, T.D., Bechetoille, A., Dascotte, J.-C., Valtot, F., Brezin, A.P., Berkani, M., Garchon, H.-J., Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma (2001) Clinical Genetics, 60 (3), pp. 220-225. , DOI 10.1034/j.1399-0004.2001.600308.xPolansky, J.R., Juster, R.P., Spaeth, G.L., Association of the myocilin mt.1 promoter variant with the worsening of glaucomatous disease over time (2003) Clinical Genetics, 64 (1), pp. 18-27. , DOI 10.1034/j.1399-0004.2003.00099.xAlward, W.L.M., Kwon, Y.H., Khanna, C.L., Johnson, A.T., Hayreh, S.S., Zimmerman, M.B., Narkiewicz, J., Stone, E.M., Variations in the myocilin gene in patients with open-angle glaucoma (2002) Archives of Ophthalmology, 120 (9), pp. 1189-1197Fan, B.J., Leung, Y.F., Pang, C.P., Polymorphisms in the myocilin promoter unrelated to the risk and severity of primary open-angle glaucoma (2004) J Glaucoma, 13, pp. 377-384Özgül, R.K., Bozkurt, B., Orcan, S., Myocilin mt1 promoter polymorphism in Turkish patients with primary open angle glaucoma (2005) Mol Vis, 11, pp. 916-921Saura, M., Cabana, M., Ayuso, C., Valverde, D., Mutations including the promoter region of myocilin/TIGR gene (2005) European Journal of Human Genetics, 13 (3), pp. 384-387. , DOI 10.1038/sj.ejhg.5201299Melki, R., Belmouden, A., Brezin, A., Myocilin analysis by DHPLC in French POAG patients: Increased prevalence of Q368X mutation (2003) Hum Mutat, 22, pp. 179-184Vasconcellos, J.P.C., Melo, M.B., Menezes, F., Mutações no gene TIGR/MYOC em uma população brasileira com glauoma juvenil e glaucoma primário de ângulo aberto (1988) Arq Bras Oftalmol, 61, pp. 690-693Paolera, M.D., Vasconcellos, J.P.V., Umbelino, C.C., CYP1B1 Gene analysis in primary congenital glaucoma Brazilian patients (2010) J Glaucoma, 19, pp. 176-182Liu, T., Zeng, D., Zeng, C., Association between MYOC.mt1 promoter polymorphism and risk of primary open-angle glaucoma: A systematic review and meta-analysis (2008) Med Sci Monit, 14, pp. RA87-RA93Copin, B., Brezin, A.P., Valtot, F., Apolipoprotein E-promoter single-nucleotide polymorphisms affect the phenotype of primary open-angle glaucoma and demonstrate interaction with the myocilin gene (2002) Am J Hum Genet, 70, pp. 1575-1581Kerrigan-Baumrind, L.A., Quigley, H.A., Pease, M.E., Kerrigan, D.F., Mitchell, R.S., Number of ganglion cells in glaucoma eyes compared with threshold visual field tests in the same persons (2000) Investigative Ophthalmology and Visual Science, 41 (3), pp. 741-74

CYP1B1 Gene Analysis in Primary Congenital Glaucoma Brazilian Patients Novel Mutations and Association With Poor Prognosis

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Purpose: To determine the spectrum of CYP1B1 gene mutations in Brazilian patients with primary congenital glaucoma, and to correlate the presence of alterations in the CYP1B1 gene sequence with clinical aspects of the disease. Materials and Methods: Thirty nonrelated patients with primary congenital glaucoma were studied. Molecular analysis consisted of the codifying region sequencing (exons 2 and 3) and intron/exon boundaries. Results: CYP1B1 gene mutations were present in 9 (30%) of the 30 patients. The structural changes in the CYP1B1 gene previously described in the literature and observed in our study were Q19X, P437L, A443G, g.4340delG, g.7901_79013delGAGTGCAGGCAGA, g.8182delG, and g.8214_8215delG. Three new mutations were observed: 4635delT, 4523delC, and L378Q, in addition to 3793T --> C, R48G, A119S, L432V, D449D, and N453S polymorphisms. Patients carrying CYP1B1 gene mutations needed more surgical procedures to control intraocular pressure, either when both eyes were evaluated (P = 0.003) or when the worst eye of the patient was analyzed (P = 0.011). In relation to the number of affected eyes, all patients with mutations (n = 9/9) developed bilateral glaucoma, whereas 11/21 patients without mutations in the CYP1B1 gene had bilateral glaucoma (P = 0.013). Conclusions: In this group of primary congenital glaucoma patients, a 30% mutation frequency in the CYP1B1 gene was observed. The presence of mutations was associated with a more severe form of the disease, requiring more surgeries for intraocular pressure control and with a higher rate of bilateral cases.193176182FAP Santa Casa de Sao PauloFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)FAPESP [02/11575-0

Myocilin mt.1 gene promoter single nucleotide polymorphism (-1000C > G) in Brazilian patients with primary open angle glaucoma

Background: The myocilin ( MYOC) gene promoter polymorphism -1000C>G ( MYOC mt.1) can be associated with faster progression of primary open angle glaucoma (POAG). The purpose of this study was to investigate the MYOC mt.1 in Brazilian patients with POAG and to evaluate its possible role on the phenotype and the severity of the disease. Material and methods: One hundred sixty-seven POAG patients and 130 normal controls were enrolled. DNA samples were prepared and the MYOC mt.1 polymorphism was screened by real-time polymerase chain reaction (RT -- PCR) in an Single-nucleotide polymorphism (SNP) assay. Frequencies of the MYOC mt.1 promoter polymorphism were determined for both groups and compared by Fisher's exact test and Chi-square test with Yate's correction. Intraocular pressure (IOP), cup-to-disc ratio (C/D), number of glaucoma medications, and number of glaucoma surgeries were compared between MYOC mt.1 carriers and non-carriers. Results: MYOC mt.1 genotype frequencies did not differ between POAG and controls (P == 0.420); 14.6% of controls and 16.4% of POAG patients were MYOC mt.1 carriers (CG or GG). Frequencies of the G allele were similar between glaucomatous patients and controls (7.3% and 9.2%, respectively; P == 0.477). Among POAG patients, there were no differences in mean C/D ratio, IOP, number of glaucoma medications, and surgical procedures for IOP control between carries and non-carriers of the MYOC mt.1 promoter polymorphism (p > 0.05). Conclusion: The G allele of the MYOC mt.1 promoter polymorphism was equally distributed among POAG patients and healthy subjects and it is possibly unrelated to the risk and severity of disease in the Brazilian population.321182

Lack Of Association Between Optineurin Gene Variants T34t, E50k, M98k, 691-692insag And R545q And Primary Open Angle Glaucoma In Brazilian Patients

Purpose: To verify the frequencies of T34T, E50K, M98K, 691-692insAG, and R545Q variants in the optineurin (OPTN) gene in Brazilian subjects with primary open-angle glaucoma (POAG) and controls. Patients and Methods: Ninety-nine patients with POAG and 100 normal controls were enrolled in this study. The frequency of alterations in the OPTN gene was analyzed by direct sequencing and enzymatic digestion of PCR products. Results: None of the five alterations evaluated was significantly associated with POAG when compared to controls. However, the T34T silent change was present in greater frequency in POAG patients (37.37% vs. 23.00% in controls), while the R545Q change was more prevalent in controls (23.00% vs. 10.10% in POAG). The M98K and 691-692insAG presented with low frequencies in POAG patients (1.01% and 2.02%, respectively) and controls (2.00% and 2.00%, respectively). The E50K substitution was not observed. Conclusion: Our data show no association between the five evaluated variants and POAG in the Brazilian population. Copyright © Informa Healthcare USA, Inc.3011318Weinreb, R.N., Glaucoma neuroprotection: What is it? Why is it needed? (2007) Can J Ophthalmol, 42, pp. 396-398Raymond, V., Molecular genetics of the glaucomas: Mapping of the first five "GLC" loci (1997) Am J Hum Genet, 60, pp. 272-277Sarfarazi, M., Recent advances in molecular genetics of glaucomas (1997) Hum Mol Genet, 6, pp. 1667-1677Wilson, M.R., Hertzmark, E., Walker, A.M., Childs-Shaw, K., Epstein, D.L., A case-control study of risk factors in open angle glaucoma (1987) Arch Ophthalmol, 105, pp. 1066-1071Drance, S., Chronic open angle glaucoma: Risk factors in addition to intraocular pressure (2001) Acta Ophthalmol Scand, 79, p. 545Monemi, S., Spaeth, G., DaSilva, A., Popinchalk, S., Ilitchev, E., Liebmann, Ritch, R., Sarfarazi, M., Identification of a novel adult-onset primary open glaucoma (POAG) gene on 5q22.1 (2005) Hum Mol Genet, 14, pp. 725-733Rezaie, T., Child, A., Hitchings, R., Brice, G., Miller, L., Coca-Prados, M., Héon, E., Sarfarazi, M., Adult-onset primary open-angle glaucoma caused by mutations in optineurin (2002) Science, 295, pp. 1077-1079Libby, R.T., Douglas, B., Gould, D.B., Anderson, M.G., John, S.M., Complex Genetic of Glaucoma Susceptibility (2005) Annu Rev Genomics Hum Genet, 6, pp. 15-44Funayama, T., Ishikawa, K., Ohtake, Y., Tanino, T., Kurosaka, D., Kimura, I., Suzuki, K., Mashima, Y., Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma (2004) Invest Ophthalmol Vis Sci, 45, pp. 4359-4367Hodapp, E., Parrish II, R.K., Anderson, D.R., (1993) Clinical decisions in glaucoma, pp. 52-61. , St Louis, The C.V, Mosby CoWilloughby, C.E., Chan, L.L., Herd, S., Billingsley, G., Noordeh, N., Levin, A.V., Buys, Y., Héon, E., Defining the pathogenicity of optineurin in juvenile open-angle glaucoma (2004) Invest Ophthalmol Vis Sci, 45, pp. 3122-3130Fan, B.J., Wang, D.Y., Fan, D.S., Tam, P.O., Lam, D.S., Tham, C.C., Lam, C.Y., Pang, C.P., SNPs and interaction analyses of myocilin, optineurin, and apolipoprotein E in primary open angle glaucoma patients (2005) Mol Vis, 11, pp. 625-631Tang, S., Toda, Y., Kashiwagi, K., Mabuchi, F., Iijima, H., Tsukahara, S., Yamagata, Z., The association between Japanese primary open-angle glaucoma and normal tension glaucoma patients and the optineurin gene (2003) Hum Genet, 113, pp. 276-279Fuse, N., Takahashi, K., Akiyama, H., Nakazawa, T., Seimiya, M., Kuwahara, S., Tamai, M., Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population (2004) J Glaucoma, 13, pp. 299-303Jansson, M., Wadelius, C., Rezaie, T., Sarfarazi, M., Analysis of rare variants and common haplotypes in the optineurin gene in Swedish glaucoma cases (2005) Ophthalmic Genet, 26, pp. 85-89Mukhopadhyay, A., Komatireddy, S., Acharya, M., Bhattacharjee, A., Mandal, A.K., Thakur, S.K., Chandrasekhar, G., Ray, K., Evaluation of Optineurin as a candidate gene in Indian patients with primary open angle glaucoma (2005) Mol Vis, 11, pp. 792-797Hauser, M.A., Sena, D.F., Flor, J., Walter, J., Auguste, J., Larocque-Abramson, K., Graham, F., Wiggs, J.L., Distribution of optineurin sequence variations in an ethnically diverse population of low-tension glaucoma patients from the United States (2006) J Glaucoma, 15, pp. 358-363Leung, Y.F., Fan, B.J., Lam, D.S., Lee, W.S., Tam, P.O., Chua, J.K., Tham, C.C., Pang, C.P., Different optineurin mutation pattern in primary open-angle glaucoma (2003) Invest Ophthalmol Vis Sci, 44, pp. 3880-3884Toda, Y., Tang, S., Kashiwagi, K., Mabuchi, F., Iijima, H., Tsukahara, S., Yamagata, Z., Mutations in the optinurin gene in Japanese patients with primary open angle glaucoma and normal tension glaucoma (2004) Am J Med Genet A, 125 A, pp. 1-4Baird PN, Foote SJ, Mackey DA, Craig J, Speed TP, Bureau A. Evidence for a novel glaucoma locus at chromosome 3p21-22. Hum Genet. 2005;117:249-257Alward, W.L., Kwon, Y.H., Kawase, K., Craig, J.E., Hayreh, S.S., Johnson, A.T., Khanna, C.L., Stone, E.M., Evaluation of optineurin sequence variations in 1048 patients with open angle glaucoma (2003) Am J Ophthalmol, 136, pp. 904-910Aung, T., Rezaie, T., Okada, K., Viswanathan, A.C., Child, A.H., Brice, G., Bhattacharya, S.S., Hitchings, R.A., Clinical features and course of patients with glaucoma with the E50K mutation in the optineurin gene (2005) Invest Ophthalmol Vis Sci, 46, pp. 2816-2822Weisschuh, N., Neumann, D., Wolf, C., Wissinger, B., Gramer, E., Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients (2005) Mol Vis, 11, pp. 284-287Melki, R., Belmouden, A., Akhayat, O., Brézin, A., Garchon, H.J., The M98K variant of the OPTINEURIN (OPTN) gene modifies initial intraocular pressure in patients with primary open angle glaucoma (2003) J Med Genet, 40, pp. 842-844Urbano, A.P., Freitas, T.G., Arcieri, E.S., Urbano, A.P., Costa, V.P., Avaliação dos tipos de glaucoma no Serviço de Oftalmologia da Unicamp. (2001) Arq Bras Oftalmol, 64, pp. P052. , Abstrac

Lack of Association Between Optineurin Gene Variants T34T, E50K, M98K, 691_692insAG and R545Q and Primary Open Angle Glaucoma in Brazilian Patients

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Purpose: To verify the frequencies of T34T, E50K, M98K, 691_692insAG, and R545Q variants in the optineurin (OPTN) gene in Brazilian subjects with primary open-angle glaucoma (POAG) and controls. Patients and Methods: Ninety-nine patients with POAG and 100 normal controls were enrolled in this study. The frequency of alterations in the OPTN gene was analyzed by direct sequencing and enzymatic digestion of PCR products. Results: None of the five alterations evaluated was significantly associated with POAG when compared to controls. However, the T34T silent change was present in greater frequency in POAG patients (37.37% vs. 23.00% in controls), while the R545Q change was more prevalent in controls (23.00% vs. 10.10% in POAG). The M98K and 691_692insAG presented with low frequencies in POAG patients (1.01% and 2.02%, respectively) and controls (2.00% and 2.00%, respectively). The E50K substitution was not observed. Conclusion: Our data show no association between the five evaluated variants and POAG in the Brazilian population.3011318FAP-SCSPFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)FAPESP [02/11575-0