Journal article
Polymorphisms of the SAMHD1 Gene Are Not Associated with the Infection and Natural Control of HIV Type 1 in Europeans and African-Americans
AIDS research and human retroviruses, Vol.28(12), pp.1565-1573
12/01/2012
DOI: 10.1089/aid.2012.0039
PMCID: PMC3505062
PMID: 22530776
Abstract
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. 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 white 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 2088 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- to 6-fold variations of
SAMHD1
mRNA levels in primary B-lymphocytes, CD4
+
T-lymphocytes, and CD14
+
monocytes from five healthy donors. 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 whites. However, polymorphisms of
SAMHD1
are unlikely to contribute to the infection and natural control of HIV-1 in European and African-American individuals.
Details
- Title: Subtitle
- Polymorphisms of the SAMHD1 Gene Are Not Associated with the Infection and Natural Control of HIV Type 1 in Europeans and African-Americans
- Creators
- Sirena Coon - 1Center for Retrovirus Research, Department of Veterinary Bioscience, The Ohio State University, Columbus, OhioDanxin Wang - 2Department of Pharmacology, Program in Pharmacogenomics, School of Biomedical Science, The Ohio State University, Columbus, OhioLi Wu - 3Department of Microbial Infection and Immunity, The Ohio State University, Columbus, Ohio
- Resource Type
- Journal article
- Publication Details
- AIDS research and human retroviruses, Vol.28(12), pp.1565-1573
- DOI
- 10.1089/aid.2012.0039
- PMID
- 22530776
- PMCID
- PMC3505062
- NLM abbreviation
- AIDS Res Hum Retroviruses
- ISSN
- 0889-2229
- eISSN
- 1931-8405
- Publisher
- Mary Ann Liebert, Inc
- Language
- English
- Date published
- 12/01/2012
- Academic Unit
- Microbiology and Immunology
- Record Identifier
- 9984002388802771
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