Serum polymorphisms in Down's syndrome

Rundle, A. T.; Atkin, J; Sudell, Barbara

doi:10.1007/bf00283767

Cited by 10 publications

(5 citation statements)

References 31 publications

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“…No other region retained evidence of linkage in the second screen (P Ͼ 0.1) ( Table 1). These findings are intriguing because trisomy of chromosome 21 has been repeatedly associated with high rates of HBV viral persistence (4,5). A further ten microsatellites were added to the region to fine map the locus.…”

Section: Resultsmentioning

confidence: 99%

Class II cytokine receptor gene cluster is a major locus for hepatitis B persistence

Frodsham

Zhang

Dumpis

et al. 2006

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

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Persistent hepatitis B virus infection is a major risk factor for hepatocellular carcinoma, the most frequent cancer in some developing countries. Up to 95% of those infected at birth and 15% of those infected after the neonatal period fail to clear hepatitis B virus, together resulting in Ϸ350 million persistent carriers worldwide. Via a whole genome scan in Gambian families, we have identified a major susceptibility locus as a cluster of class II cytokine receptor genes on chromosome 21q22. Coding changes in two of these genes, the type I IFN receptor gene, IFN-AR2, and the IL-10RB gene that encodes a receptor chain for IL-10-related cytokines including the IFN-s, are associated with viral clearance (haplotype P value ‫؍‬ 0.0003), and in vitro assays support functional roles for these variants in receptor signaling.complex trait ͉ IL-10 ͉ interferon ͉ susceptibility ͉ virus T here are Ϸ350 million people with persistent hepatitis B virus (HBV) infection worldwide. Of these infected people, up to one-quarter will die from complications of the infection including cirrhosis and primary liver cancer. However, infection with HBV does not invariably lead to chronic hepatitis: When infection is acquired during childhood, as is normally the case in subSaharan Africa, up to 90% will eliminate the virus spontaneously. When infection is acquired during the early neonatal period from an HBV-infected mother, only 10% of children will eliminate the virus, but this situation, known as vertical transmission, is rare in Africa.Susceptibility to persistent infection is governed by a number of factors, in addition to the age at infection. Twin studies and limited genetic association study data indicate that host genetic background influences the outcome of infection (1). It is likely that genetic susceptibility to persistent HBV infection is polygenic, and that both MHC and non-MHC genes are involved (2).Current treatment for persistent HBV infection is partially effective, expensive, and impractical in developing countries where persistent HBV infection rates are at their highest (3). It is therefore crucial to identify factors that determine whether HBV becomes a self-limiting or persistent infection because these factors may reveal new therapeutic opportunities for patients with chronic HBV infection. This study was conducted to identify genetic determinants of persistent HBV infection by using a genomewide approach. ResultsTo search for major loci that might have some effect on viral persistence in a highly endemic area, 318 microsatellites were analyzed in 88 independent affected sibling pairs (ASPs) in 61 Gambian families. The most significant evidence of linkage was found on chromosome 21 [logarithm of odds (lod) ϭ 1.66; P ϭ 0.003] (Table 1, which is published as supporting information on the PNAS web site). This locus on chromosome 21 also showed evidence of linkage when a total of 31 markers (with SIBPAIR P value Ͻ0.1) were followed up in a further 106 independent ASPs in 74 families (D21S1252 screens 1 and 2 combined: ...

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Section: Resultsmentioning

confidence: 99%

Class II cytokine receptor gene cluster is a major locus for hepatitis B persistence

Frodsham

Zhang

Dumpis

et al. 2006

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

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“…Gc proteins were separated at room temperature by immunoelectrophoresis on micro-agar plates with diffusion against a specific antiserum. Full details of these methods are given in detail elsewhere (Rundle and Sudell, 1973;Rundle et al, 1974a).…”

Section: Methodsmentioning

confidence: 99%

“…Elsewhere (Rundle, Atkin & Sudell, 1974a;Rundle and Sudell, 1973) we have reported the phenotype frequencies of a number of serum and red cell phenotype systems, but neglected to analyse the data with respect to the presence or absence of the hepatitis-associated antigen. This communication will present such an analysis.…”

Section: Introductionmentioning

confidence: 99%

Association of Serum and Red Cell Phenotypes and Australian Antigen in Down's Syndrome

Rundle

Atkin

Sudell

1974

J intellect Disabil Res

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“…Sertun haptoglobin phenotypes were determined after starch gel electrophoresis (Rundle, Atkin and Sudell, 1974a) and the red cell phosphoglucom.utase phenotypes SERUM GHOLINESTERASE: 2.…”

Section: Methodsmentioning

confidence: 99%

Serum Cholinesterase (Pseudocholinesterase) in Down's Syndrome: 2. Quantitative Levels

Drew¹,

Rundle²

1977

J intellect Disabil Res

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Serum polymorphisms in Down's syndrome

Cited by 10 publications

References 31 publications

Class II cytokine receptor gene cluster is a major locus for hepatitis B persistence

Class II cytokine receptor gene cluster is a major locus for hepatitis B persistence

Association of Serum and Red Cell Phenotypes and Australian Antigen in Down's Syndrome

Serum Cholinesterase (Pseudocholinesterase) in Down's Syndrome: 2. Quantitative Levels

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