| Polymorphisms of the SAMHD1 gene are not associated with the infection and natural control of HIV-1 in Europeans and African Americans. | |
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MedLine Citation:
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PMID: 22530776 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Background: The HIV-1 restriction factor SAM domain and HD domain-containing protein 1 (SAMHD1) blocks HIV-1 infection in human myeloid cells. Mutations in the SAMHD1 gene are associated with rare genetic diseases including Aicardi-Goutieres syndrome. However, it is unknown whether polymorphisms of SAMHD1 are associated with infection and natural control of HIV-1 in humans. Our objective was to determine whether the expression of SAMHD1 mRNA is affected by common single nucleotide polymorphisms (SNPs) in SAMHD1 and whether the SNPs are associated with HIV-1 infection status. Results: Using a tagging SNP approach, we determined the association between eight tagging SNPs in SAMHD1 and the mRNA expression in B-lymphocyte cell lines from 70 healthy Caucasian donors. We identified one SNP (rs1291142) that was significantly associated with SAMHD1 mRNA expression, with minor allele carriers having 30% less mRNA levels (P=0.015). However, after analyzing the published genome-wide association study data of 857 HIV-1 controllers and 2,088 HIV-1 progressors from the European and African American cohorts, we did not find a significant association between SNPs in SAMHD1 and HIV-1 infection status, including SNP rs1291142 (P>0.05). We also observed 2-6-fold variations of SAMHD1 mRNA levels in primary B-lymphocytes, CD4+ T-lymphocytes and CD14+ monocytes from five healthy donors. Conclusions: Our results suggest that common regulatory polymorphism(s) exist in the SAMHD1 gene that affects its mRNA expression in B-lymphocyte cell lines from healthy Caucasians. However, polymorphisms of SAMHD1 are unlikely to contribute to the infection and natural control of HIV-1 in European and African American individuals. |
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Authors:
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Sirena Coon; Danxin Wang; Li Wu |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-4-24 |
Journal Detail:
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Title: AIDS research and human retroviruses Volume: - ISSN: 1931-8405 ISO Abbreviation: - Publication Date: 2012 Apr |
Date Detail:
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Created Date: 2012-4-25 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8709376 Medline TA: AIDS Res Hum Retroviruses Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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The Ohio State University, Department of Veterinary Bioscience, Columbus, Ohio, United States; coon.87@buckeyemail.osu.edu. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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