Genetic variations in humans associated with differences in the course of hepatitis C

Saito, Takafumi; Ji, Guijin; Shinzawa, Haruhide; Okumoto, Kazuo; Hattori, Etsuko; Adachi, Tsuyoshi; Terada, Tadashi; Sugahara, Kazuhiko; Ito, Junitsu; Watanabe, Hisayoshi; Saito, Koji; Togashi, Hitoshi; Ishii, Keisuke; Matsuura, Tadashi; Inageda, Kiyoshi; Muramatsu, Masaaki; Kawata, Satoshi

doi:10.1016/j.bbrc.2004.03.056

Cited by 54 publications

(38 citation statements)

References 31 publications

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“…More recent studies have identified an isoform of SP110, SP110b, to be a transcriptional coactivator that binds to the hepatitis C core protein and negatively regulates retinoic acid receptor ␣-mediated transcription (8). A variant of the SP110 gene has also been found to be associated with the course of hepatitis C infection in a Japanese population (IMS-JST013416) (9). This SNP corresponds to rs1804027 in this study, with which we did not find an association.…”

Section: Resultsmentioning

confidence: 33%

Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa

Tosh

Campbell

Fielding

et al. 2006

Proc. Natl. Acad. Sci. U.S.A.

106

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The sst1 locus has been identified in a mouse model to control resistance and susceptibility of Mycobacterium tuberculosis infection. Subsequent studies have now identified Ipr1 (intracellular pathogen resistance 1) to be the gene responsible. Ipr1 is encoded within the sst1 locus and is expressed in the tuberculosis lung lesions and macrophages of sst1-resistant, but not sst1-susceptible mice. We have therefore examined the closest human homologue of Ipr1, SP110, for its ability to control susceptibility to M. tuberculosis infection in humans. In a study of families from The Gambia we have identified three polymorphisms that are associated with disease. On examination of additional families from Guinea-Bissau and the Republic of Guinea, two of these associations were independently replicated. These variants are in strong linkage disequilibrium with each other and lie within a 31-kb block of low haplotypic diversity, suggesting that a polymorphism within this region has a role in genetic susceptibility to tuberculosis in humans.association study ͉ murine genetics ͉ macrophage

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Section: Resultsmentioning

confidence: 33%

Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa

Tosh

Campbell

Fielding

et al. 2006

Proc. Natl. Acad. Sci. U.S.A.

106

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“…HCV ile enfekte hastalarda 19. kromozomda bulunan IL-28B gen bölgesindeki TNP'lerin, spontan iyileşme ve tedavi yanıtıyla olan yakın ilişkisi tespit edilmiştir 12,14,23 . IL-28B haricinde HCV enfeksiyonu seyrinde (spontan iyileşme, progresyon veya tedaviye yanıt) birçok genetik polimorfi zmin etkisi olduğuna dair yayınlar mevcuttur 20,[24][25][26][27][28][29] .…”

Section: Discussionunclassified

Investigation of the Association Between Paraoxonase-1 Gene Polymorphisms and Response to Therapy in Chronic Hepatitis C Patients

Kıratlı¹,

Gül²,

Artuk³

et al. 2014

Mikrobiyol Bul

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ÖZETKaraciğer tarafından üretilen ve dolaşımda yüksek yoğunluklu lipoproteinlere bağlı olarak bulunan paraoksonaz-1 (PON1) enzimi, okside lipid miktarını azaltan antioksidan özelliğe sahiptir. İnsanda 7. kromozom üzerinde birbirine komşu üç farklı PON gen bölgesi bulunur. PON1 geni ve polimorfi zmleri ile çeşitli hastalıklar arasında ilişki olduğu gösterilmiştir. Hepatit C virusunun (HCV) ise, hücre-deki replikasyon döngüsünün tüm safhalarında lipoproteinlerle olan yakın ilişkisi ve konağın lipid metabolizmasını değiştirdiği bilinmektedir. Bu çalışmada, birçok kronik hastalığın fi zyopatolojisinde rol aldığı düşünülen PON1 enziminin 55. ve 192. bölgelerindeki aminoasit değişikliklerinin, kronik hepatit C virus (HCV) enfeksiyonunda tedavi yanıtındaki etkisinin araştırılması amaçlanmıştır. Çalışmaya, anti-HCV ve HCV-RNA pozitif, tümü HCV genotip 1b ile enfekte 49 kronik hepatit C'li hasta (27 erkek, 22 kadın; yaş ortalaması 52.9 ± 12.6 yıl) dahil edilmiştir. En az bir kez pegile interferon + ribavirin tedavisi almış ve tedavi sonrası 6. ayda HCV-RNA'sı negatif olan hastalar yanıtlı, pozitif olanlar ise yanıtsız olarak kabul edilmiştir. Hastaların rutin takipleri esnasında alınan tam kan örneklerinden genomik DNA'lar elde edilmiş ve T-ARMS-PCR (Tetra-primer amplifi cation refractory mutation system-polymerase chain reaction) yöntemiyle PON1 enziminin 55. ve 192. bölgelerindeki L/M55 ve Q/R192 polimorfi zm analizleri yapılmıştır. Çalışmamızda, tedaviye yanıtlı hastalarda, 55. pozisyonda saptanan genotipler; LL: %44.1, LM: %44.1, MM: %11.8; 192. pozisyonda ise QQ: %55.9, QR: %41.2 ve RR: %2.9 olarak belirlenmiştir. Olguların kombine genotip analizleri incelendiğinde, tek bir olgunun LL/RR genotipine sahip olduğu ve Geliş Tarihi

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“…In addition, they are both regulated by interferons. Intriguingly, changes in SP110b have been connected to susceptibility to hepatitis C. 3 This suggests that Ipr1 is involved in how pathogens and host interact, potentially through the regulation of gene expression in macrophages.…”

Section: Searching For the Genesmentioning

confidence: 99%

A gene for susceptibility to tuberculosis

Secko¹

2005

Canadian Medical Association Journal

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Genetic variations in humans associated with differences in the course of hepatitis C

Cited by 54 publications

References 31 publications

Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa

Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa

Investigation of the Association Between Paraoxonase-1 Gene Polymorphisms and Response to Therapy in Chronic Hepatitis C Patients

A gene for susceptibility to tuberculosis

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