Genetic susceptibility to infectious disease

Segal, Shelley; Hill, Adrian V. S.

doi:10.1016/s0966-842x(03)00207-5

Cited by 137 publications

(76 citation statements)

References 34 publications

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“…Indeed, a founder effect and a genetic drift could not be excluded, thus a larger study implicating 7 and the implication of TNFa and its receptors in infectious diseases has already been suggested. 8 -10 Further investigations must be performed to test this hypothesis.…”

Section: Discussionmentioning

confidence: 99%

Unexpected high frequency of P46L TNFRSF1A allele in sub-Saharan West African populations

et al. 2004

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TNF receptor-associated periodic syndrome (TRAPS) is an autosomal dominant disorder characterized by recurrent attacks of fever and serositis. To date, more than 30 mutations have been reported in TNFRSF1A, the responsible gene. In Caucasian populations, the P46L (c.224C4T) TNFRSF1A sequence variation is considered as a low-penetrance mutation because its allele frequency is similar in patients and controls (B1%). Whereas the spectrum of TNFRSF1A gene mutations has been well established in Caucasian and several Mediterranean populations, it remains unknown in sub-Saharan African populations. In this study, we found an unexpected high P46L allele frequency (B10%) in two groups from West Africa -a group of 145 patients with sickle cell anaemia and a group of 349 healthy controls. These data suggest that the P46L variant is rather a polymorphism than a TRAPS causative mutation. We propose that the P46L high frequency in West African populations could be explained by some biological advantage conferred to carriers.

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Section: Discussionmentioning

confidence: 99%

Unexpected high frequency of P46L TNFRSF1A allele in sub-Saharan West African populations

et al. 2004

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“…Also, HSV-1 is the most common cause of fatal, sporadic encephalitis in immunocompetent individuals (40, 56). Improvements in diagnosis and antiviral drug treatment have dramatically reduced the morbidity and mortality of HSV-1 encephalitis (HSE) (55), although some patients fail to respond or subsequently suffer neurological relapses after completing a standard treatment course (18,55).Clinical and animal model studies have clearly demonstrated the importance of genetic makeup in resistance to a broad range of infectious agents (15,41). In regard to HSV-1, C57BL/6 (B6) and related B10 mouse strains are resistant, while other strains, such A/J, BALB/c, 129S6 (129), and DBA/ 2J, are susceptible to fatal infections (21,23,25).…”

mentioning

confidence: 99%

“…Clinical and animal model studies have clearly demonstrated the importance of genetic makeup in resistance to a broad range of infectious agents (15,41). In regard to HSV-1, C57BL/6 (B6) and related B10 mouse strains are resistant, while other strains, such A/J, BALB/c, 129S6 (129), and DBA/ 2J, are susceptible to fatal infections (21,23,25).…”

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confidence: 99%

The Immune Response to Herpes Simplex Virus Type 1 Infection in Susceptible Mice Is a Major Cause of Central Nervous System Pathology Resulting in Fatal Encephalitis

Lundberg¹,

Ramakrishna²,

Brown

et al. 2008

J Virol

116

114

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Herpes simplex virus type 1 (HSV-1) infections are widespread in developed countries, with estimates of seropositivity exceeding 50% (54). Primary infections in immunocompetent individuals are usually mild or even asymptomatic and result in lifelong latent infections in sensory ganglia and the central nervous system (CNS) (5). Reactivated HSV-1 can result in recurrent diseases of mucous membranes (e.g., gingivostomatitis and herpes labialis) and herpes keratitis, an immunopathological disease that is a leading cause of blindness (39). Also, HSV-1 is the most common cause of fatal, sporadic encephalitis in immunocompetent individuals (40, 56). Improvements in diagnosis and antiviral drug treatment have dramatically reduced the morbidity and mortality of HSV-1 encephalitis (HSE) (55), although some patients fail to respond or subsequently suffer neurological relapses after completing a standard treatment course (18,55).Clinical and animal model studies have clearly demonstrated the importance of genetic makeup in resistance to a broad range of infectious agents (15,41). In regard to HSV-1, C57BL/6 (B6) and related B10 mouse strains are resistant, while other strains, such A/J, BALB/c, 129S6 (129), and DBA/ 2J, are susceptible to fatal infections (21,23,25). In these animal models, mortality results from CNS infection. In prior studies, we defined the herpes resistance locus (Hrl) on mouse chromosome 6 as a major determinant of resistance (22, 25); however, ongoing studies indicate that resistance to HSE is genetically very complex, involving multiple interacting loci, with tumor necrosis factor playing a critical role (26) (unpublished results). The mechanism by which HSV-1 CNS infection causes death has not been defined. Counterintuitively, necropsy virus titers of nervous system tissues do not correlate with mouse resistance or susceptibility genotype (25,26). These and other observations have led to the suggestion that variation of the host inflammatory response may play a major role in determining HSV fatality. Intense inflammatory responses in CNS tissues in a mouse model of HSE have been reported, with tumor necrosis factor and macrophage chemoattractant protein 1 being expressed prominently (43). Also, in vitro and in vivo studies have shown that human and mouse microglia nonproductively infected with HSV-1 express a variety of proinflammatory cytokines and chemokines, consistent with their involvement in

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“…In cattle, it is known that the resistance to brucellosis is genetically determined (15,38,40). These circumstances, and the widespread presence of genes protecting against bacterial infections in livestock (15,23,30), humans (6,25,34,43), mice (27,36), and invertebrates (26,29) prompted the search for polymorphisms conferring resistance to brucellosis in the water buffalo.…”

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confidence: 99%

Genetic Resistance toBrucella abortusin the Water Buffalo (Bubalus bubalis)

Borriello

Capparelli²,

Bianco

et al. 2006

Infect Immun

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Brucellosis is a costly disease of water buffaloes (Bubalus bubalis). Latent infections and prolonged incubation of the pathogen limit the efficacy of programs based on the eradication of infected animals. We exploited genetic selection for disease resistance as an approach to the control of water buffalo brucellosis. We tested 231 water buffalo cows for the presence of anti-Brucella abortus antibodies (by the agglutination and complement fixation tests) and the Nramp1 genotype (by PCR-denaturing gradient gel electrophoresis). When the 231 animals (58 cases and 173 controls) were divided into infected (seropositive) and noninfected (seronegative) groups and the Nramp1 genotypes were compared, the seropositive subjects were 52 out of 167 (31%) in the Nramp1A ؉ (Nramp1AA or Nramp1AB) group and 6 out of 64 (9.4%) in the Nramp1A ؊ (Nramp1BB) group (odds ratio, 4.37; 95% confidence limits, 1.87 to 10.19; 2 , 11.65 for 1 degree of freedom). Monocytes from Nramp1BB subjects displayed significantly (P < 0.01) higher levels of Nramp1 mRNA than Nramp1AA subjects and also a significantly (P < 0.01) higher ability in controlling the intracellular replication of several Brucella species in vitro. Thus, selection for the Nramp1BB genotype can become a valuable tool for the control of water buffalo brucellosis in the areas where the disease is endemic.

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Genetic susceptibility to infectious disease

Cited by 137 publications

References 34 publications

Unexpected high frequency of P46L TNFRSF1A allele in sub-Saharan West African populations

Unexpected high frequency of P46L TNFRSF1A allele in sub-Saharan West African populations

The Immune Response to Herpes Simplex Virus Type 1 Infection in Susceptible Mice Is a Major Cause of Central Nervous System Pathology Resulting in Fatal Encephalitis

Genetic Resistance toBrucella abortusin the Water Buffalo (Bubalus bubalis)

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