Gd (+) Laguna, a new rare glucose-6-phosphate dehydrogenase variant from Brazil

Weimer, Tânia A.; Schüler, L.; Beutler, Ernest; Salzano, Francisco M.

doi:10.1007/bf00291568

Cited by 18 publications

(20 citation statements)

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“…Although the frequency of G6PD deficiency in the study group was almost twice that of the controls (7.4 vs. 3.7%), it did not reach statistical difference, probably due to the small sample size. The mutations studied for G6PD are the most frequent in our state (15), and the overall prevalence of the deficiency in our sample (5.2%) is consistent with the 7.8% previously described in our population (16)(17)(18)(19).…”

Section: Discussionsupporting

confidence: 92%

UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: is there an association?

et al. 2012

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Background: Jaundice is a physiological phenomenon; however, severe hyperbilirubinemia occurs in only 5 to 6% of the healthy newborn population. It has been suggested that genetic variation could enhance the risk of hyperbilirubinemia when coexpressed with other icterogenic conditions. Methods: The study included newborns with a gestational age of greater than 35 wk and weights greater than 2,000 g with indications for phototherapy. The polymorphisms from UGT1A1 (rs8175347), sLcO1B1 (rs4149056 and rs2306283), and sLcO1B3 (rs17680137 and rs2117032) were analyzed by capillary electrophoresis and hydrolysis probes. results: A total of 167 hyperbilirubinemic infants and 247 control subjects were enrolled. The gender, ABO incompatibility, birth weight, and gestational age differed between the groups, but the allelic and genotypic frequency of the polymorphisms from SLCO1B genes did not. In logistic regression, the ABO incompatibility, gestational age, and polymorphic T allele of rs2117032 remained in the model. The presence of this polymorphism seemed to provide protection from hyperbilirubinemia. The individuals who were homozygous for the G allele of rs2306283 and who were glucose 6-phosphatedehydrogenase deficient were more frequent among the cases. conclusion: Although genetic variation accounts for a good part of this condition, the association between different polymorphisms and environmental factors has yet to be explained.

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Section: Discussionsupporting

confidence: 92%

UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: is there an association?

et al. 2012

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“…The heterogeneity among mesoregions proved to be statistically highly significant. To simplify the table, rare variants were grouped under the letter V. Their names are as follows: (a) albumin -NW mesoregion: Passo Fundo, CE: Vera Cruz ; (b) ceruloplasmin -Porto Alegre (Franco et al, 1981); (c) G6PD -NE: Seattle and Farroupilha, MPOA: Seattle, SW: São Borja, SC: Seattle and Lages (Weimer et al, 1993; (d) Haptoglobin -not studied in detail and therefore no definite nomenclature should be applied. Individuals with Portuguese surnames were the most frequent (from 38% in the SC to 73% in the SE) in seven of the eight mesoregions (Table IV).…”

Section: Resultsmentioning

confidence: 99%

“…The non-Indian populations of the States of Rio Grande do Sul and Santa Catarina have been fairly well studied in the last three decades (Tondo and Salzano, 1962;Tondo et al, 1963;Salzano, 1963;Schwantes et al, 1967;Salzano et al, 1967Salzano et al, , 1968aLewgoy and Salzano, 1968;Hutz et al, 1977;Weimer et al, 1981Weimer et al, , 1987Weimer et al, , 1993Franco et al, 1981Franco et al, , 1982Franco et al, , 1986Silva et al, 1981;Franco and Salzano, 1985;Rieger et al, 1988;Arai et al, 1989;Bortolini et al, 1992Bortolini et al, , 1994Bortolini et al, , 1995Bortolini et al, , 1997aBortolini et al, ,b, 1998Heidrich et al, 1995;Robinson et al, 1998). However, these investigations have not provided a detailed distribution pattern of the polymorphisms investigated, nor a comparison with attributes such as grandparents' nationalities or the individuals' surnames, which could give clues about the history of these groups.…”

Section: Introductionmentioning

confidence: 99%

Genetics, surnames, grandparents' nationalities, and ethnic admixture in Southern Brazil: Do the patterns of variation coincide?

et al. 1999

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A total of 2,708 individuals from the European-derived population of Rio Grande do Sul, divided into seven mesoregions, and of 226 individuals of similar origin from Santa Catarina were studied. Seventeen protein genetic systems, as well as grandparents' nationalities, individuals' surnames, and interethnic admixture were investigated. The alleles which presented the highest and lowest differences were GLO1*2 (16%) and PGD*A (2%), respectively, but in general no significant genetic differences were found among mesoregions. The values observed were generally those expected for individuals of European descent, with the largest difference being a lower prevalence (34-39%) of P*1. Significant heterogeneity among mesoregions was observed for the other variables considered, and was consistent with historical records. The Amerindian contribution to the gene pool of European-derived subjects in Rio Grande do Sul was estimated to be as high as 11%. Based on the four data sets, the most general finding was a tendency for a northeast-southwest separation of the populations studied. Seven significant phenotype associations between systems were observed at the 5% level (three at the 0.1% level). Of the latter, the two most interesting (since they were also observed in other studies) were MNSs/Duffy and Rh/ACP.

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“…La prevalencia de d-G6PD varió en esos estudios latinoamericanos entre cero y 11,89%, pero en pacientes con anemia hemolítica subió a 30,3%; la d-G6PD en personas aparentemente sanas fue 2,76% y en no sanas 3,29%; en negros 11,70%, en mestizos 0,36%, en blancos 4,0%, en amazónicos 5,80% y en no amazónicos 0,0%; en neonatos hombres 2,40% y mujeres 0,85%; en neonatos hombres de México no ictéricos 0,67% e ictéricos 1,92%. En Brasil hay por lo menos nueve variantes genéticas de G6PD, con la característica de que en los indígenas de ese país casi no existen variantes 67 .…”

Section: Introductionunclassified

Deficiencia de glucosa 6-fostato deshidrogenasa en hombres sanos y en pacientes maláricos; Turbo (Antioquia, Colombia)

Carmona‐Fonseca

Álvarez

Ríos

et al. 2008

Rev. bras. epidemiol.

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Rev Bras Epidemiol 2008; 11(2): 252-65Deficiencia de glucosa 6-fostato deshidrogenasa en hombres sanos y en pacientes maláricos; Turbo (Antioquia, Colombia)Deficiency of glucose-6-phosphate dehydrogenase in healthy men and malaria patients; Turbo (Antioquia, Colombia) Jaime Carmona-Fonseca Gonzalo Álvarez Alexandra Ríos María Fernanda Vásquez Grupo Salud y Sociedad, Universidad de Antioquia -http://medicina.udea.edu. co/Investigacion/Grupos/malaria/index.htm Financiación: Colciencias (contrato RC-253-2004 ), Dirección Seccional de Salud de Antioquia (contrato CI-270-2004) y Universidad de Antioquia. Agradecimientos: A los directivos, empleados y pacientes del "Hospital Francisco Valderrama" y del "Puesto de salud San José" de Turbo. A los médicos, laboratoristas y demás contratistas de los proyectos. Correspondencia: Jaime Carmona-Fonseca. Calle 62 52-59, laboratorio 610, Medellín (Colombia). E-mail: jaimecarmonaf@hotmail.com ResumenIntroducción: En América Latina la deficiencia de glucosa 6-fosfato deshidrogenasa (d-G6PD) ha sido poco estudiada y en Colombia solo conocemos tres publicaciones antiguas. Urge conocer más la prevalencia de d-G6PD, sobre todo ahora que el tratamiento de la malaria vivax plantea aumentar la dosis diaria o total de primaquina. Objetivo: Medir la prevalencia de d-G6PD en poblaciones masculina sana y de enfermos con malaria por Plasmodium vivax, en Turbo (Urabá, departamento de Antioquia, Colombia). Metodología: Encuestas de prevalencia, para evaluar la G6PD en dos poblaciones de Turbo (Antioquia): hombres sanos; hombres y mujeres con malaria vivax. Se trabajó con muestras diseñadas con criterios estadístico-epidemiológicos. La actividad enzimática se midió con el método normalizado de Beutler para valorar la G6PD en hemolizados. Resultados: Entre los hombres sanos (n = 508), el intervalo de confianza 95% para el promedio (IC95%) estuvo entre 4,15 y 4,51 UI/g hemoglobina y 14,8% presentaron valores por debajo del "límite normal" de < 2,29 UI/g hemoglobina (prevalencia de d-G6PD). Entre los hombres con malaria (n = 206) el IC95% fue 3,81 a 4,16 UI/g hemoglobina y entre las mujeres palúdicas fue 3,86 a 4,20 UI/g hemoglobina. Los promedios masculinos (sanos vs. maláricos) fueron estadísticamente diferentes (p = 0,028). Únicamente 9,5% (13/137) de los enfermos con paludismo, todos de sexo masculino, presentaron d-G6PD. Conclusiones: la d-G6PD es relativamente alta (14,8%) en la población masculina sana de Turbo y en los enfermos maláricos por P. vivax (9,5%, todos hombres). Palabras IntroducciónLa glucosa 6-fosfato deshidrogenasa (G6PD) es una enzima hallada en todos los organismos vivientes 1 , donde cataliza el primer paso en la vía de la pentosa fosfato 2,3 . Numerosos estudios han demostrado la importancia de la G6PD en el crecimiento, desarrollo y progreso de la enfermedad celular 4 . . En la d-G6PD puede ocurrir anemia hemolítica cuya gravedad varía desde leve y asintomática durante toda la vida hasta crisis ocasionales e intensas de anemia 8,12 . La d-G6PD hepática es importan...

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Gd (+) Laguna, a new rare glucose-6-phosphate dehydrogenase variant from Brazil

Cited by 18 publications

References 10 publications

UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: is there an association?

UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: is there an association?

Genetics, surnames, grandparents' nationalities, and ethnic admixture in Southern Brazil: Do the patterns of variation coincide?

Deficiencia de glucosa 6-fostato deshidrogenasa en hombres sanos y en pacientes maláricos; Turbo (Antioquia, Colombia)

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