Role of functional polymorphisms of NRAMP1 gene for the development of Crohnʼs disease

Gazouli, Maria; Atsaves, Vassilios; Mantzaris, Gerassimos J.; Economou, Michael; Nasioulas, George; Evangelou, Konstantinos; Archimandritis, A; Anagnou, Nicholas P.

doi:10.1002/ibd.20488

Cited by 26 publications

(16 citation statements)

References 37 publications

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“…For example; carriage of the variant allele in SLC11A1 D543N conferred protection from an IRD event in Cambodians but there was no effect in Indian patients. This SNP has been associated with susceptibility to inflammatory diseases such as Crohn's disease in Greek patients [5] and Buruli ulcers in Ghanaian patients [12]. Carriage of the variant allele in IL18-607 conferred an almost 4-fold increased risk of developing an IRD event in Indian patients, but had no effect in Cambodians.…”

Section: Discussionmentioning

confidence: 99%

The Search for a Genetic Factor Associating with Immune Restoration Disease in HIV Patients Co-Infected withMycobacterium tuberculosis

et al. 2013

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Abstract. BACKGROUND: Up to 43% of HIV-infected patients co-infected with Mycobacterium tuberculosis experience exacerbations of tuberculosis (TB) after commencing antiretroviral therapy (ART). These are termed immune restoration disease (IRD). It is unclear why individual susceptibility varies. OBJECTIVE: We investigate if single nucleotide polymorphisms (SNP) in genes encoding cytokines, chemokines and their receptors associate with development of an IRD event in patients of two different ethnicities. METHODS: DNA samples were available from small well-characterised groups of HIV patients treated in Cambodia (TB-IRD, n = 17; HIV + TB + controls, n = 55) and India (TB-IRD, n = 19; HIV + TB + controls, n = 43). HIV patients with a TB diagnosis but no evidence of IRD were included to control for susceptibility to TB per se. Sixteen SNP implicated in inflammation or mycobacterial disease were genotyped. RESULTS: Susceptibility to TB-IRD associated with carriage of TNFA-1031*T (rs1799964; P = 0.05) and SLC11A1 D543N*G (rs17235409; P = 0.04) in Cambodian patients and carriage of IL18-607*G (rs1946518; P = 0.02) and VDR FokI (F/f)*T (rs10735810; P = 0.05) in Indian patients. CONCLUSIONS: Associations between polymorphisms in immune-related genes and TB-IRD were found, but none were common across two ethnicities.

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Section: Discussionmentioning

confidence: 99%

The Search for a Genetic Factor Associating with Immune Restoration Disease in HIV Patients Co-Infected withMycobacterium tuberculosis

et al. 2013

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“…Polymorphisms of the human Nramp1 gene [5ꞌ(GT)n, D543N, and INT4G/C (rs3731865)] are significantly associated with Crohn's disease and rheumatoid arthritis (Gazouli et al, 2008;Ates et al, 2009). A 4-bp deletion polymorphism in the 3ꞌ-UTR is related to the incidence of post-transplant lymphoproliferative disease after liver transplantation (Barshes et al, 2006).…”

Section: Introductionmentioning

confidence: 99%

Characterization of chicken natural resistance-associated macrophage protein encoding genes (Nramp1 and Nramp2) and association with salmonellosis resistance

Fang²,

Zhang³

et al. 2013

Genet. Mol. Res.

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ABSTRACT. Natural resistance-associated macrophage protein 1 and 2 encoding genes (Nramp1 and Nramp2) are related to many diseases. We cloned the cDNA of chicken Nramp1 and Nramp2 genes, characterized their expression and polymorphisms, and investigated the association of some SNPs with resistance to salmonellosis. The Nramp1 cDNA was 1746 bp long and the Nramp2 cDNA was 1938 bp long. These cDNAs are similar to previously reported cDNAs, varying by two and one amino acids, respectively. The chicken Nramp1 gene expressed predominantly in liver, thymus and spleen in both females and males. The Nramp2 gene expressed in almost all tissues, but ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 12 (1): 618-630 (2013) Chicken Nramp1 and Nramp2 gene characterization 619 predominantly in breast muscle, leg muscle, cerebrum, cerebellum, lung, kidney, and heart in both females and males. We identified 45 SNPs and 2 indels in the chicken Nramp1 gene; three of 13 SNPs in the exons were missense mutations (Arg223Gln, Ala273Glu and Arg497Gln). Association analysis indicated that A24101991G is significantly associated with chicken salmonellosis resistance. These results will be useful for functional investigation of chicken Nramp1 and Nramp2 genes.

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“…The mechanism seems to be linked to the transporting of divalent metal ions, mainly Mn 2+ and Fe 2+ , with protein SLC11A1 playing a leading role in the cellular recycling of the latter (Soe-Lin et al, 2008). The involvement of the SLC11A1 gene in infections by intracellular pathogens including mycobacteria has been shown in mice, humans, and various domestic animals (Vidal et al, 1993;Gazouli et al, 2008;Sanchez-Robert et al, 2008). Recently, a strong genetic influence of Slc11a1 on the innate susceptibility of mice to infection with MAP has been established (Roupie et al, 2008).…”

Section: Introductionmentioning

confidence: 99%

Identification of single nucleotide polymorphisms in the bovine solute carrier family 11 member 1 (SLC11A1) gene and their association with infection by Mycobacterium avium subspecies paratuberculosis

Ruiz-Larrañaga

Garrido

Manzano

et al. 2010

Journal of Dairy Science

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Johne's disease is a chronic enteritis caused by Mycobacterium avium ssp. paratuberculosis (MAP) that causes substantial financial losses for the cattle industry. Susceptibility to MAP infection is reported to be determined in part by genetic factors, so markerassisted selection could help to obtain bovine populations that are increasingly resistant to MAP infection. Solute carrier family 11 member 1 (SLC11A1) was adjudged to be a potential candidate gene because of its role in innate immunity, its involvement in susceptibility to numerous intracellular infections, and its previous association with bovine MAP infection. The objectives of this study were to carry out an exhaustive process of discovery and compilation of polymorphisms in SLC11A1 gene, and to perform a population-based genetic association study to test its implication in susceptibility to MAP infection in cattle. In all, 57 single nucleotide polymorphisms (SNP) were detected, 25 of which are newly described in Bos taurus. Twenty-four SNP and two 3′-untranslated region polymorphisms, previously analyzed, were selected for a subsequent association study in 558 European Holstein-Friesian animals. The SNP c.1067C > G and c.1157-91A > T and a haplotype formed by these 2 SNP yielded significant association with susceptibility to MAP infection. The c.1067C > G is a nonsynonymous SNP that causes an amino acid change in codon 356 from proline to alanine (P356A) that could alter SLC11A1 protein function. This association study supports the involvement of SLC11A1 gene in susceptibility to MAP infection in cattle. Our results suggest that SNP c.1067C > G may be a potential causal variant, although functional studies are needed to assure this point.

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Role of functional polymorphisms of NRAMP1 gene for the development of Crohnʼs disease

Abstract: Collectively, our data indicate that genetic polymorphisms of NRAMP1 might be associated with susceptibility to CD.

Cited by 26 publications

References 37 publications

The Search for a Genetic Factor Associating with Immune Restoration Disease in HIV Patients Co-Infected withMycobacterium tuberculosis

The Search for a Genetic Factor Associating with Immune Restoration Disease in HIV Patients Co-Infected withMycobacterium tuberculosis

Characterization of chicken natural resistance-associated macrophage protein encoding genes (Nramp1 and Nramp2) and association with salmonellosis resistance

Identification of single nucleotide polymorphisms in the bovine solute carrier family 11 member 1 (SLC11A1) gene and their association with infection by Mycobacterium avium subspecies paratuberculosis

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