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dc.typeArtigo de periódicopt_BR
dc.titleGenotype-phenotype Correlations In Cyp1b1-associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts From India And Brazilpt_BR
dc.contributor.authorde Melopt_BR
dc.contributor.authorMonica Barbosa; Mandalpt_BR
dc.contributor.authorAnil K.; Tavarespt_BR
dc.contributor.authorIvan M.; Alipt_BR
dc.contributor.authorMohammed Hasnat; Kabrapt_BR
dc.contributor.authorMeha; Cabral de Vasconcellospt_BR
dc.contributor.authorJose Paulo; Senthilpt_BR
dc.contributor.authorSirisha; Sallumpt_BR
dc.contributor.authorJuliana M. F.; Kaurpt_BR
dc.contributor.authorInderjeet; Betinjanept_BR
dc.contributor.authorAlberto J.; Mourapt_BR
dc.contributor.authorChristiane R.; Paulapt_BR
dc.contributor.authorJayter S.; Costapt_BR
dc.contributor.authorKarita A.; Sarfarazipt_BR
dc.contributor.authorMansoor; Della Paolerapt_BR
dc.contributor.authorMauricio; Finzipt_BR
dc.contributor.authorSimone; Ferrazpt_BR
dc.contributor.authorVictor E. F.; Costapt_BR
dc.contributor.authorVital P.; Belfortpt_BR
dc.contributor.authorJr.; Chakrabartipt_BR
dc.contributor.authorSubhabratapt_BR[de Melo, Monica Barbosa] Univ Estadual Campinas, Ctr Mol Biol & Genet Engn, Campinas, SP, Brazilpt_BR
unicamp.authorCosta, Vital P.] Univ Estadual Campinas, Fac Med Sci, Dept Ophthalmol, Campinas, SP, Brazilpt_BR[Mandal, Anil, Sirisha] LV Prasad Eye Inst, Jasti V Ramanamma Childrens Eye Care Ctr, Hyderabad, Andhra Pradesh, Indiapt[Tavares, Ivan, Juliana M., Christiane, Karita, Rubens, Jr.] Univ Fed Sao Paulo, Dept Ophthalmol, Sao Paulo, SP, Brazilpt[Ali, Mohammed Hasnat] LV Prasad Eye Inst, Ctr Clin Epidemiol & Biostat, Hyderabad, Andhra Pradesh, Indiapt[Kabra, Mehapt, Inderjeetpt, Subhabrata] LV Prasad Eye Inst, Kallam Anji Reddy Mol Genet Lab, Hyderabad, Andhra Pradesh, Indiapt[Cabral de Vasconcellos, Jose Paulopt[Betinjane, Alberto, Simone] Univ Sao Paulo, Sch Med, Dept Ophthalmol, Sao Paulo, SP, Brazilpt[Paula, Jayter S.] Univ Sao Paulo, Ribeirao Preto Med Sch, Dept Ophthalmol, BR-14049 Ribeirao Preto, SP, Brazilpt[Sarfarazi, Mansoor] Univ Connecticut, Ctr Hlth, Dept Surg, Surg Res Ctr,Mol Ophthalm Genet Lab, Farmington, CT USApt[Della Paolera, Mauricio] Irmandade Santa Casa de Misericordia Sao Paulo, Sch Med Sci, Dept Ophthalmol, Sao Paulo, SP, Brazilpt[Ferraz, Victor E. F.] Univ Sao Paulo, Ribeirao Preto Med Sch, Dept Genet, Ribeirao Preto, SP, Brazilpt
dc.subjectCytochrome P4501b1 Cyp1b1pt_BR
dc.subjectJapanese Patientspt_BR
dc.subjectLtbp2 Genept_BR
dc.description.abstractBackground Primary congenital glaucoma (PCG), occurs due to the developmental defects in the trabecular meshwork and anterior chamber angle in children. PCG exhibits genetic heterogeneity and the CYP1B1 gene has been widely implicated worldwide. Despite the diverse mutation spectra, the clinical implications of these mutations are yet unclear. The present study attempted to delineate the clinical profile of PCG in the background of CYP1B1 mutations from a large cohort of 901 subjects from India (n=601) and Brazil (n=300). Methods Genotype-phenotype correlations was undertaken on clinically well characterized PCG cases from India (n=301) and Brazil (n=150) to assess the contributions of CYP1B1 mutation on a set of demographic and clinical parameters. The demographic (gender, and history of consanguinity) and quantitative clinical (presenting intraocular pressure [IOP] and corneal diameter [CD]) parameters were considered as binary and continuous variables, respectively, for PCG patients in the background of the overall mutation spectra and also with respect to the prevalent mutations in India (R368H) and Brazil (4340delG). All these variables were fitted in a multivariate logistic regression model using the Akaike Information Criterion (AIC) to estimate the adjusted odds ratio (OR) using the R software (version 2.14.1). Results The overall mutation spectrum were similar across the Indian and Brazilian PCG cases, despite significantly higher number of homozygous mutations in the former (p=0.024) and compound heterozygous mutations in the later (p=0.012). A wide allelic heterogeneity was observed and only 6 mutations were infrequently shared between these two populations. The adjusted ORs for the binary (demographic) and continuous (clinical) variables did not indicate any susceptibility to the observed mutations (p>0.05). Conclusions The present study demonstrated a lack of genotype-phenotype correlation of the demographic and clinical traits to CYP1B1 mutations in PCG at presentation. However, the susceptibility of these mutations to the long-term progression of these traits are yet to be deciphered.en
dc.relation.ispartofPLOS ONEpt_BR
dc.publisher.countrySAN FRANCISCOpt_BR
dc.identifier.citationGenotype-phenotype Correlations In Cyp1b1-associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts From India And Brazil. Public Library Science, v. 10, p. MAY-2015.pt_BR
dc.description.sponsorshipDepartment of Science and Technology, Government of India [DST/INT/BRAZIL/RPO-01/2008]pt_BR
dc.description.sponsorshipConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)pt_BR
dc.description.sponsorship1Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)pt_BR
dc.description.sponsordocumentnumberCNPq [EU475687/20094]pt
dc.description.provenanceMade available in DSpace on 2016-06-07T13:17:51Z (GMT). No. of bitstreams: 1 wos_000354916100131.pdf: 200874 bytes, checksum: 59e1208120c26a59419e7ddc1e7732e5 (MD5) Previous issue date: 2015en
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