Publications by authors named "J A Lautenberger"
Nasopharyngeal carcinoma (NPC) is an epithelial malignancy facilitated by Epstein-Barr Virus infection. Here we resolve the major genetic influences for NPC incidence using a genome-wide association study (GWAS), independent cohort replication, and high-resolution molecular HLA class I gene typing including 4,055 study participants from the Guangxi Zhuang Autonomous Region and Guangdong province of southern China. We detect and replicate strong association signals involving SNPs, HLA alleles, and amino acid (aa) variants across the major histocompatibility complex-HLA-A, HLA -B, and HLA -C class I genes (P(HLA-A-aa-site-62) = 7.
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- - The study investigated how genetic variations in individuals affect the progression of HIV to AIDS by analyzing data from five cohorts of HIV patients, focusing on single-nucleotide polymorphisms (SNPs).
- - Significant findings include an association between slower AIDS progression and SNPs in the PARD3B gene, particularly rs11884476, which showed a strong effect on disease rate and highlighted a specific PARD3B haplotype linked to this progression.
- - The results suggest that genetic factors, like certain SNPs, could play a crucial role in influencing how quickly AIDS develops, pointing to new avenues for understanding and potentially treating this condition.
Background: As we enter an era when testing millions of SNPs in a single gene association study will become the standard, consideration of multiple comparisons is an essential part of determining statistical significance. Bonferroni adjustments can be made but are conservative due to the preponderance of linkage disequilibrium (LD) between genetic markers, and permutation testing is not always a viable option. Three major classes of corrections have been proposed to correct the dependent nature of genetic data in Bonferroni adjustments: permutation testing and related alternatives, principal components analysis (PCA), and analysis of blocks of LD across the genome.
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- High-throughput genome-wide techniques helped identify previously unknown host proteins that play a role in HIV infection, leading to the discovery of HIV-dependency factors (HDFs) through small interfering RNA studies.
- The research involved analyzing 6380 single-nucleotide polymorphisms (SNPs) associated with 278 HDF genes in a group of 1633 individuals to find links between these genes and HIV infection and AIDS progression.
- Significant SNP associations were found in the NCOR2 and IDH1 genes related to HIV acquisition, while TM9SF2 and EGFR showed weaker links to AIDS progression, highlighting how genetic variations can impact susceptibility to HIV.
Background: The human mitochondrial genome includes only 13 coding genes while nuclear-encoded genes account for 99% of proteins responsible for mitochondrial morphology, redox regulation, and energetics. Mitochondrial pathogenesis occurs in HIV patients and genetically, mitochondrial DNA haplogroups with presumed functional differences have been associated with differential AIDS progression.
Methodology/principal Findings: Here we explore whether single nucleotide polymorphisms (SNPs) within 904 of the estimated 1,500 genes that specify nuclear-encoded mitochondrial proteins (NEMPs) influence AIDS progression among HIV-1 infected patients.