ALBERT — All Library Books, journals and Electronic Records Telegrafenberg

1

Unknown

Genetic restriction of AIDS pathogenesis by an SDF-1 chemokine gene variant. ALIVE Study, Hemophilia Growth and Development Study (HGDS), Multicenter AIDS Cohort Study (MACS), Multicenter Hemophilia Cohort Study (MHCS), San Francisco City Cohort (SFCC) (1998)

C. Winkler ; W. Modi ; M. W. Smith ; [et al.]

American Association for the Advancement of Science (AAAS)

In: Science. 279(5349): 389-93.

add to mindlist on the mindlist

Details

Publication Date: 1998-02-07

Description: Stromal-derived factor (SDF-1) is the principal ligand for CXCR4, a coreceptor with CD4 for T lymphocyte cell line-tropic human immunodeficiency virus-type 1 (HIV-1). A common polymorphism, SDF1-3'A, was identified in an evolutionarily conserved segment of the 3' untranslated region of the SDF-1 structural gene transcript. In the homozygous state, SDF1-3'A/3'A delays the onset of acquired immunodeficiency syndrome (AIDS), according to a genetic association analysis of 2857 patients enrolled in five AIDS cohort studies. The recessive protective effect of SDF1-3'A was increasingly pronounced in individuals infected with HIV-1 for longer periods, was twice as strong as the dominant genetic restriction of AIDS conferred by CCR5 and CCR2 chemokine receptor variants in these populations, and was complementary with these mutations in delaying the onset of AIDS.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Winkler, C -- Modi, W -- Smith, M W -- Nelson, G W -- Wu, X -- Carrington, M -- Dean, M -- Honjo, T -- Tashiro, K -- Yabe, D -- Buchbinder, S -- Vittinghoff, E -- Goedert, J J -- O'Brien, T R -- Jacobson, L P -- Detels, R -- Donfield, S -- Willoughby, A -- Gomperts, E -- Vlahov, D -- Phair, J -- O'Brien, S J -- New York, N.Y. -- Science. 1998 Jan 16;279(5349):389-93.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Science Applications International Corporation (SAIC), National Cancer Institute, Frederick, MD 21702, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/9430590" target="_blank"〉PubMed〈/a〉

Keywords: Acquired Immunodeficiency Syndrome/genetics/*immunology/virology ; Adult ; Chemokine CXCL12 ; Chemokines/chemistry/*genetics/physiology ; *Chemokines, CXC ; Cohort Studies ; Continental Population Groups ; Disease Progression ; Genes ; Genetic Variation ; Genotype ; HIV Infections/genetics/*immunology/virology ; HIV-1/*physiology ; Heterozygote ; Humans ; Male ; Molecular Sequence Data ; Odds Ratio ; Polymorphism, Genetic ; Receptors, CCR2 ; Receptors, CCR5/genetics/physiology ; Receptors, CXCR4/metabolism ; Receptors, Chemokine/genetics/physiology ; Survival Analysis ; T-Lymphocytes/virology

Print ISSN: 0036-8075

Electronic ISSN: 1095-9203

Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics

Published by American Association for the Advancement of Science (AAAS)

Permalink

	Location	Call Number	Expected	Availability

Others were also interested in ...

PAPER CURRENT

S·F·X

Fulltext

2

Unknown

Genetic restriction of HIV-1 infection and progression to AIDS by a deletion allele of the CKR5 structural gene. Hemophilia Growth and Development Study, Multicenter AIDS Cohort Study, Multicenter Hemophilia Cohort Study, San Francisco City Cohort, ALIVE Study (1996)

M. Dean ; M. Carrington ; C. Winkler ; [et al.]

American Association for the Advancement of Science (AAAS)

In: Science. 273(5283): 1856-62.

add to mindlist on the mindlist

Details

Publication Date: 1996-09-27

Description: The chemokine receptor 5 (CKR5) protein serves as a secondary receptor on CD4(+) T lymphocytes for certain strains of human immunodeficiency virus-type 1 (HIV-1). The CKR5 structural gene was mapped to human chromosome 3p21, and a 32-base pair deletion allele (CKR5Delta32) was identified that is present at a frequency of approximately0.10 in the Caucasian population of the United States. An examination of 1955 patients included among six well-characterized acquired immunodeficiency syndrome (AIDS) cohort studies revealed that 17 deletion homozygotes occurred exclusively among 612 exposed HIV-1 antibody-negative individuals (2.8 percent) and not at all in 1343 HIV-1-infected individuals. The frequency of CKR5 deletion heterozygotes was significantly elevated in groups of individuals that had survived HIV-1 infection for more than 10 years, and, in some risk groups, twice as frequent as their occurrence in rapid progressors to AIDS. Survival analysis clearly shows that disease progression is slower in CKR5 deletion heterozygotes than in individuals homozygous for the normal CKR5 gene. The CKR5Delta32 deletion may act as a recessive restriction gene against HIV-1 infection and may exert a dominant phenotype of delaying progression to AIDS among infected individuals.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Dean, M -- Carrington, M -- Winkler, C -- Huttley, G A -- Smith, M W -- Allikmets, R -- Goedert, J J -- Buchbinder, S P -- Vittinghoff, E -- Gomperts, E -- Donfield, S -- Vlahov, D -- Kaslow, R -- Saah, A -- Rinaldo, C -- Detels, R -- O'Brien, S J -- DA04334/DA/NIDA NIH HHS/ -- MO1-RR06020/RR/NCRR NIH HHS/ -- N01-HD-4-3200/HD/NICHD NIH HHS/ -- etc. -- New York, N.Y. -- Science. 1996 Sep 27;273(5283):1856-62.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Laboratory of Genomic Diversity, National Cancer Institute (NCI), Frederick, MD 21702-1201, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/8791590" target="_blank"〉PubMed〈/a〉

Keywords: Acquired Immunodeficiency Syndrome/*genetics/immunology/physiopathology/virology ; Base Sequence ; Chromosome Mapping ; Chromosomes, Human, Pair 3 ; Cohort Studies ; Disease Progression ; Genes ; HIV Infections/*genetics/immunology/physiopathology/virology ; *Hiv-1 ; Hemophilia A/complications ; Heterozygote ; Homosexuality, Male ; Homozygote ; Humans ; Immunity, Innate/genetics ; Male ; Molecular Sequence Data ; Receptors, CCR5 ; Receptors, Cytokine/*genetics ; Receptors, HIV/*genetics ; Risk Factors ; *Sequence Deletion ; Survival Analysis

Print ISSN: 0036-8075

Electronic ISSN: 1095-9203

Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics

Published by American Association for the Advancement of Science (AAAS)

Permalink

	Location	Call Number	Expected	Availability

Others were also interested in ...

PAPER CURRENT

S·F·X

Fulltext

3

Unknown

Type IIA von Willebrand disease with apparent recessive inheritance (1987)

Asakura, A ; Harrison, J ; Gomperts, E ; [et al.]

American Society of Hematology

In: Blood. 1987; 69(5): 1419-1420. Published 1987 May 01. doi: 10.1182/blood.v69.5.1419.1419.

add to mindlist on the mindlist

Details

Publication Date: 1987-05-01

Description: Type IIA von Willebrand's Disease (vWD) is the most common type II variant, and all reported cases (56 individuals in 26 families) have had autosomal dominant inheritance. An eight-year-old female with an increased bleeding tendency since infancy was found to have laboratory values typical of type IIA vWD, but her parents and siblings were asymptomatic. With the exception of uniformly decreased levels of ristocetin cofactor in relation to von Willebrand factor antigen, the results of family studies were normal including the presence of large multimeric forms of von Willebrand factor antigen. These findings are consistent with the propositus having the homozygous state of an autosomal recessive trait. Desmopressin infusion in the propositus was followed by a significant increase of factor VIII coagulant and von Willebrand factor antigen but a limited change in ristocetin cofactor with no development of large multimers.

Print ISSN: 0006-4971

Electronic ISSN: 1528-0020

Topics: Biology , Medicine

Published by American Society of Hematology

Permalink

	Location	Call Number	Expected	Availability

Others were also interested in ...

PAPER CURRENT

S·F·X

Fulltext

4

Unknown

Type IIA von Willebrand disease with apparent recessive inheritance (1987)

Asakura, A ; Harrison, J ; Gomperts, E ; [et al.]

American Society of Hematology

In: Blood. 1987; 69(5): 1419-1420. Published 1987 May 01. doi: 10.1182/blood.v69.5.1419.bloodjournal6951419.

add to mindlist on the mindlist

Details

Publication Date: 1987-05-01

Description: Type IIA von Willebrand's Disease (vWD) is the most common type II variant, and all reported cases (56 individuals in 26 families) have had autosomal dominant inheritance. An eight-year-old female with an increased bleeding tendency since infancy was found to have laboratory values typical of type IIA vWD, but her parents and siblings were asymptomatic. With the exception of uniformly decreased levels of ristocetin cofactor in relation to von Willebrand factor antigen, the results of family studies were normal including the presence of large multimeric forms of von Willebrand factor antigen. These findings are consistent with the propositus having the homozygous state of an autosomal recessive trait. Desmopressin infusion in the propositus was followed by a significant increase of factor VIII coagulant and von Willebrand factor antigen but a limited change in ristocetin cofactor with no development of large multimers.

Print ISSN: 0006-4971

Electronic ISSN: 1528-0020

Topics: Biology , Medicine

Published by American Society of Hematology

Permalink

	Location	Call Number	Expected	Availability

Others were also interested in ...

PAPER CURRENT

S·F·X

Fulltext

5

Unknown

A multicenter study of viral hepatitis in a United States hemophilic population (1993)

Troisi, CL ; Hollinger, FB ; Hoots, WK ; [et al.]

American Society of Hematology

In: Blood. 1993; 81(2): 412-418. Published 1993 Jan 15. doi: 10.1182/blood.v81.2.412.412.

add to mindlist on the mindlist

Details

Publication Date: 1993-01-15

Description: Hemophilia A and B patients seen at nine US regional treatment centers were tested for serologic markers of hepatitis B virus (HBV), hepatitis C virus (HCV), and hepatitis delta virus (HDV) during 1987 and 1988. Because human immunodeficiency virus (HIV) infection, a potentially confounding variable, was present in 53% of the group, the population was divided by HIV status for analysis purposes. In the HIV-positive group (N = 382), less than 1% had not been infected with HBV, HCV, or HDV, whereas 75% had evidence of infection with HBV and 98% with HCV. HBsAg, a marker of active HBV infection, was present in 12% of subjects; 96% of these were HCV positive. Anti-HDV was detected in 35 subjects (9.1%); all were anti-HBc positive. Ten of the 35 (29%) also were positive for IgM anti-HDV, indicating current infection. All 10 were HBsAg positive and 7 of the 9 tested were HDV RNA positive. Severe/moderate hemophilia B patients were more likely to have experienced an HBV infection and to be anti-HDV positive than were similar hemophilia A patients (22% v 8%, P 〈 .05). In the HIV-negative group (N = 345), the subjects were younger and had less severe hemophilia than the HIV-positive patients. No evidence of HBV, HCV, or HDV infection was found in 18%, whereas 33% had experienced HBV infection and 79% were anti-HCV positive. Within this group, 4% were HBsAg positive. All 13 subjects with anti-HDV (4% of the HIV-negative group) also possessed anti-HBc. One (7.7%) was IgM anti-HDV positive and the serum from another contained HDV RNA. Both of these individuals were HBsAg positive. As in the HIV-positive group, severe/moderate hemophilia B patients were more likely to be HBV and HDV positive than were hemophilia A patients (9% v 3%, P 〈 .05). A prevalence study of viral hepatitis in a large US hemophilic population showed that active infection with HCV is common, occurring in 89% of all study patients regardless of HIV status. Evidence of active HBV infection was found in 8%; 19% of these were actively infected with HDV. HDV was more common in hemophilia B patients after controlling for disease severity.

Print ISSN: 0006-4971

Electronic ISSN: 1528-0020

Topics: Biology , Medicine

Published by American Society of Hematology

Permalink

	Location	Call Number	Expected	Availability

Others were also interested in ...

PAPER CURRENT

S·F·X

Fulltext

6

Unknown

A multicenter study of viral hepatitis in a United States hemophilic population (1993)

Troisi, CL ; Hollinger, FB ; Hoots, WK ; [et al.]

American Society of Hematology

In: Blood. 1993; 81(2): 412-418. Published 1993 Jan 15. doi: 10.1182/blood.v81.2.412.bloodjournal812412.

add to mindlist on the mindlist

Details

Publication Date: 1993-01-15

Description: Hemophilia A and B patients seen at nine US regional treatment centers were tested for serologic markers of hepatitis B virus (HBV), hepatitis C virus (HCV), and hepatitis delta virus (HDV) during 1987 and 1988. Because human immunodeficiency virus (HIV) infection, a potentially confounding variable, was present in 53% of the group, the population was divided by HIV status for analysis purposes. In the HIV-positive group (N = 382), less than 1% had not been infected with HBV, HCV, or HDV, whereas 75% had evidence of infection with HBV and 98% with HCV. HBsAg, a marker of active HBV infection, was present in 12% of subjects; 96% of these were HCV positive. Anti-HDV was detected in 35 subjects (9.1%); all were anti-HBc positive. Ten of the 35 (29%) also were positive for IgM anti-HDV, indicating current infection. All 10 were HBsAg positive and 7 of the 9 tested were HDV RNA positive. Severe/moderate hemophilia B patients were more likely to have experienced an HBV infection and to be anti-HDV positive than were similar hemophilia A patients (22% v 8%, P 〈 .05). In the HIV-negative group (N = 345), the subjects were younger and had less severe hemophilia than the HIV-positive patients. No evidence of HBV, HCV, or HDV infection was found in 18%, whereas 33% had experienced HBV infection and 79% were anti-HCV positive. Within this group, 4% were HBsAg positive. All 13 subjects with anti-HDV (4% of the HIV-negative group) also possessed anti-HBc. One (7.7%) was IgM anti-HDV positive and the serum from another contained HDV RNA. Both of these individuals were HBsAg positive. As in the HIV-positive group, severe/moderate hemophilia B patients were more likely to be HBV and HDV positive than were hemophilia A patients (9% v 3%, P 〈 .05). A prevalence study of viral hepatitis in a large US hemophilic population showed that active infection with HCV is common, occurring in 89% of all study patients regardless of HIV status. Evidence of active HBV infection was found in 8%; 19% of these were actively infected with HDV. HDV was more common in hemophilia B patients after controlling for disease severity.

Print ISSN: 0006-4971

Electronic ISSN: 1528-0020

Topics: Biology , Medicine

Published by American Society of Hematology

Permalink