Characterization of Admixture in an Urban Sample from Buenos Aires, Argentina, Using Uniparentally and Biparentally Inherited Genetic Markers

Marignac, Verónica Lucrecia Martínez; Bertoni, Bernardo; Parra, Esteban J.; Bianchi, Néstor O.

doi:10.1353/hub.2004.0058

Cited by 69 publications

(63 citation statements)

References 17 publications

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“…The population in Argentina is genetically heterogeneous, with a predominantly European ethnic background (mainly Spanish and Italian) and with low levels of Amerindian and African admixture. Different geographic areas in the country, as well as urban/rural populations, have differences in the percentage of European, Amerindian, and African admixtures, and therefore the cases and controls in our study were matched with regard to birthplace and urban/rural distribution (20). The 30 patients in our study had severe liver insufficiency due to HAV infection and were diagnosed with positive IgM anti-HAV serology, without evidence of other causes of acute liver failure.…”

Section: Resultsmentioning

confidence: 99%

A polymorphism in TIM1 is associated with susceptibility to severe hepatitis A virus infection in humans

Kim¹,

Eyheramonho²,

Pichavant³

et al. 2011

J. Clin. Invest.

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During infection with the hepatitis A virus (HAV), most patients develop mild or asymptomatic disease. However, a small number of patients develop serious, life-threatening hepatitis. We investigated this variability in disease severity by examining 30 Argentinean patients with HAV-induced acute liver failure in a case-control, cross-sectional, observational study. We found that HAV-induced severe liver disease was associated with a 6-amino-acid insertion in TIM1/HAVCR1 (157insMTTTVP), the gene encoding the HAV receptor. This polymorphism was previously shown to be associated with protection against asthma and allergic diseases and with HIV progression. In binding assays, the TIM-1 protein containing the 157insMTTTVP insertion polymorphism bound HAV more efficiently. When expressed by human natural killer T (NKT) cells, this long form resulted in greater NKT cell cytolytic activity against HAV-infected liver cells, compared with the shorter TIM-1 protein without the polymorphism. To our knowledge, the 157insMTTTVP polymorphism in TIM1 is the first genetic susceptibility factor shown to predispose to HAV-induced acute liver failure. Furthermore, these results suggest that HAV infection has driven the natural selection of shorter forms of the TIM-1 protein, which binds HAV less efficiently, thereby protecting against severe HAV-induced disease, but which may predispose toward inflammation associated with asthma and allergy.

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Section: Resultsmentioning

confidence: 99%

A polymorphism in TIM1 is associated with susceptibility to severe hepatitis A virus infection in humans

Kim¹,

Eyheramonho²,

Pichavant³

et al. 2011

J. Clin. Invest.

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“…Currently, about 50 % of the population trace their origin to Italian immigrants and 25-30 % to Spaniards. The relative European, Amerindian, and West African genetic contributions to the gene pool have been estimated in the population of Buenos Aires in 67.5, 25.9, and 6.5 %, respectively (Martínez-Marignac et al 2004). Average consanguinity is less than 1 %, except in some rare isolated areas (Castilla et al 1991;Liascovich et al 2001).…”

Section: Demography and Health Indicatorsmentioning

confidence: 99%

Genetic testing and services in Argentina

Penchaszadeh

2012

J Community Genet

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Argentina is a middle-income country with a population of 40 million people. The structure of morbidity and mortality approaches that of more developed nations, with congenital and genetic disorders contributing significantly to ill health. The health delivery system is mixed, with public, social security, and private sectors which together spend close to 10 % of the GNP. Health subsectors are decentralized at provincial and municipality levels, where health planning and financing occurs, leading to fragmentation, inefficiency, and inequities. There are about 41 clinical genetic units in major medical centers in large cities, staffed by about 120 clinical geneticists, although only a few units are fully comprehensive genetic centers. Duplications, deficiencies, and poor regionalization and coordination affect health care delivery in general and in genetics. Funding for genetic services is limited due to poor understanding and lack of political will on the part of health authorities. Recently, however, there have been some interesting initiatives by national and provincial ministries of health to improve genetic services delivery by increasing coordination and regionalization. At the same time, training in genetics of health professionals is occurring, particularly in primary health care, and registries of congenital defects are being put in place. These developments are occurring in conjunction with a new awareness by health authorities of the importance of genetics in health care and research, a heightened activism of patient organizations demanding services for neglected conditions, as well as of women movements for the right to safe abortion.

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“…For instance, Dipierri et al (1998) show that the Native American component in two northwestern Argentinean populations is *65%, the introgression being more evident on the Y-chromosome side with frequencies of *28% in Quebrada de Humahuaca and *64% in San Salvador de Jujuy. On the other hand, the population of La Plata (Argentina) shows a Native American component of *46% and a paternal contribution of *11% (Martinez-Marignac et al 2004). In the very isolated Argentinean village of Acuña (Bailliet et al 2001), mtDNA is mainly Native American, whereas the Y-chromosome part is essentially European.…”

Section: Final Remarksmentioning

confidence: 99%