Asociación de variantes polimorfas de los genes PTPN22, TNF y VDR en niños con nefritis lúpica: un estudio de tríos en familias colombianas

Introduction: Systemic lupus erythematosus is an autoimmune disease in which the severity varies according to race, sex and age of onset. This variation is also observed in the genetic markers associated with the disease, including PTPN22, VDR and TNF genes. The genetic stratification in different populations worldwide can influence the variability.Objective: To analyze the heritability of PTPN22, VDR and TNF genetic variants and their association with pediatric lupus nephritis in Colombian families.Materials and methods: We conducted a family-based study including 46 triads (case, father and mother). The variants rs2476601 of PTPN22; rs361525 and rs1800629 of TNF, and TaqI [rs731236], ApaI [rs7975232], BsmI [rs1544410] and FokI [rs2228570] of VDR were genotyped by qPCR. The effects of overtransmission of the risk allele from parents to children and linkage disequilibrium at the VDR and TNF loci were estimated.Results: We found that allele A of rs2476601 in PTPN22 was distributed among 8.69 % (n=16) of the parents and 19.5 % (n=18) of the cases; this allele was overtransmitted from parents to children 17 times more often than the G allele (p=0.028). TNF and VDR polymorphisms did not exhibit transmission disequilibrium. VDR TaqI, ApaI and BsmI variants exhibited linkage disequilibrium.Conclusion: These findings showed an association between the PTPN22 rs2476601 polymorphism and pediatric lupus nephritis due to its overtransmission in the group of families studied.Introducción. El lupus eritematoso sistémico es una enfermedad autoinmunitaria cuya gravedad varía según la raza, el sexo y la edad de aparición. Esta disparidad también se observa en los marcadores genéticos asociados con la enfermedad presentes en los genes PTPN22, VDR y TNF. La estratificación genética que presentan las diferentes poblaciones en el mundo puede influir en dicha variabilidad. Objetivo. Analizar la asociación de variantes genéticas de los genes PTPN22, VDR y TNF con nefritis lúpica en niños y su caracter de hereditarias en familias colombianas.Materiales y métodos. Se llevó a cabo un estudio basado en familias con 46 tríos (caso, padre y madre). Se hizo la genotipificación de las variantes rs2476601 de PTPN22, rs361525 y rs1800629 del TNF, y TaqI [rs731236], ApaI [rs7975232], BsmI [rs1544410] y FokI [rs2228570] del VDR, mediante reacción en cadena de la polimerasa cuantitativa (quantitative Polymerase Chain Reaction, qPCR). Se estimó el efecto de la transmisión del alelo de riesgo de padres a hijos y el desequilibrio de ligamiento de los loci VDR y TNF.Resultados. Se observó que el alelo A de rs2476601 en PTPN22 se distribuyó en 8,69 % (n=16) de los padres y en 19,5 % (n=18) de los casos, y que su transmisión de padres a hijos fue 17 veces mayor con relación al alelo G (p=0,028). Los polimorfismos de TNF y VDR no presentaron desequilibrio de transmisión. Las variantes TaqI, ApaI y BsmI del VDR presentaron desequilibrio de ligamiento.Conclusión. Estos hallazgos evidenciaron una asociación del polimorfismo rs2476601 de PTPN22 con la nefritis lúpica en niños, determinada por su transmisión en el grupo de familias estudiadas

Thinking through Errance: Journeying and Waiting among African Travelers in Quito and Dakar

RESUMEN: A partir del cambio de milenio, Ecuador se ha convertido en un lugar de paso, pero también de residencia para migrantes de diferentes países del mundo. Mientras que la fuerza de atracción de este país proviene de requisitos migratorios flexibles como resultado de una política de ciudadanía universal, las condiciones económicas no estimulan la posibilidad de quedarse. Este artículo tiene como punto de partida una reflexión previa sobre el concepto errancia que surgió de un acercamiento a las historias de africanos que esperaban en Dakar (Senegal) para continuar el viaje fuera de su continente. Contrastamos esta experiencia con la de otros africanos que han atravesado el Atlántico y han llegado a Quito. Dos opciones se presentan a estos últimos: continuar el viaje hacia Estados Unidos o quedarse. En ambos casos, las políticas migratorias, el valor de los papeles (pasaportes y visas) y las formas de socialidad influyen en su experiencia como viajeros. En el caso de quienes continúan el viaje hacia Estados Unidos,los riesgos de la travesía se convierten en pruebas de aptitud para recibir asilo.ABSTRACT: Since the beginning of the 21st century, Ecuador has been a point of transit but also of residence for migrants from around the world. While the attraction of this country resides in the flexible regulations of migration which stem from its policy of universal citizenship, the economic conditions there do not encourage migrants to stay. The starting point of this article is a previous study of the concept of errance which emerged from listening to the stories of Africans who were waiting in Dakar, Senegal, as they sought a way to leave from the continent from Africa. The article contrasts their experiences with those of other Africans who manage to cross the Atlantic and land in Quito. There are two options available for them: to either continue the journey toward the United States or remain in Ecuador. In both cases, migration policies, immigration papers and socialities are factors which shape their experience as travelers. For those who continue on their journey to the United States, the risks they run become a proof of their worthiness to be granted asylum

El estado y la migración global colombiana

En menos de dos décadas, el Estado colombiano ha cambiado radicalmente su posición frente a la población nacional residente en el extranjero a fin de incorporarla activamente al proyecto nacional. Al efecto se han realizado cambios constitucionales que otorgan derechos a los colombianos en el extranjero, como la doble ciudadanía, el voto en el exterior, la representación en la Cámara de Representantes del Congreso nacional; además se diseñaron programas que promueven la participación de los migrantes, como «Colombia nos Une» y «Conexión Colombia». ¿Qué factores impulsan la adopción de esta nueva posición ante los connacionales en el exterior? ¿Quiénes son los migrantes y cómo se han incorporado en el exterior? Estas preguntas se intentaran responder en este artículo en aras de un mejor entendimiento del proceso migratorio colombiano desde una perspectiva global

Aspectos Economicos del Vivir Transnacional.

The economic relations of migrants with their home countries have been the object of significant, albeit fragmented, multidisciplinary research. However, the majority of studies have been concerned primarily with the north-south flow of economic remittances that migrants send to their places of origin. This article, making use of a transnational perspective informed by the principles of economic sociology, argues that the north-south focus on monetary transfers is extremely limited, given that it fails to consider the multiple macroeconomic effects of migrants' economic and non-economic transnational connections, underestimating migrant activities and their influence at the global level. The author uses the concept of transnational living to present a new framework for understanding transnational migration that challenges accepted notions concerning the relation between labor and capital mobility

Tropical Capitalists: U.S.-Bound Immigration and Small-Enterprise Development in the Dominican Republic

This chapter examines the linkages between Dominican labor migration to the United States and the development of small firms in the Dominican Republic. It aims to explore the possible effects of labor migration on the economic development of the sending country and, especially, of its small-firm sector; and investigates the consequences of successful small enterprise development on both the Dominican migrant outflow to the United States and on return migration. Immigrant entrepreneurs and returnees—such as most respondents in our sample—can carry out, however, other types of transfer, including investment capital and producer goods for use in domestic enterprises. Partners and co-owners of existing enterprises are the single largest source of working capital. Copying the laws used to promote foreign investment, migrant investors in selected sectors should be exempted from paying taxes on incomes resulting from enterprises in which the initial investment is from savings abroad

Migration and development: Lessons from the mexican experience

The relationship between international migration and development has caught the attention of governments and international organizations, such as the World Bank and the Inter-American Development Bank. According to some of these organizations, remittances are a fundamental resource for the development of migrant-sending countries. Mexico has often been cited as a successful example of this positive relationship. However, this viewpoint — present in most public pronouncements and policy recommendations on the subject — reflects a very particular notion of development and does not address the root causes underlying the extraordinary dynamism characterizing labor migration between the United States and Mexico today. The effects of migration on development depend on large structural factors in which the two phenomena are embedded