A whole-genome association study of major determinants for host control of HIV-1.
Understanding why some people establish and maintain effective control of HIV-1 and others do not is a priority in the effort to develop new treatments for HIV/AIDS. Using a whole-genome association strategy, we identified polymorphisms that explain nearly 15% of the variation among individuals in viral load during the asymptomatic set-point period of infection. One of these is found within an endogenous retroviral element and is associated with major histocompatibility allele human leukocyte antigen (HLA)-B*5701, whereas a second is located near the HLA-C gene. An additional analysis of the time to HIV disease progression implicated two genes, one of which encodes an RNA polymerase I subunit. These findings emphasize the importance of studying human genetic variation as a guide to combating infectious agents.. ...
Progressive Cactus is a multiple-genome aligner for the thousand-genome era.
... large-scale structural differences between human individuals and haplotypes. This coming era and its unprecedented amount of ...
Human genetic admixture.
Throughout human history, large-scale migrations have facilitated the formation of populations with ancestry from multiple previously separated populations. This process leads to subsequent shuffling of genetic ancestry through recombination, producing variation in ancestry between populations, among individuals in a population, and along the genome within an individual. Recent methodological and empirical developments have elucidated the genomic signatures of this admixture process, bringing previously understudied admixed populations to the forefront of population and medical genetics. Under this theme, we present a collection of recent PLOS Genetics publications that exemplify recent progress in human genetic admixture studies, and we discuss potential areas for future work.. ...
Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23.
Haplotype analysis refined the interval containing the genetic defect, to a 3-cM interval between D6S1705 and D6S1656. This ... haplotype analysis excludes a number of striated muscle-expressed genes present in this region, including laminin alpha2, ...
Familial chordoma, a tumor of notochordal remnants, is linked to chromosome 7q33.
Haplotype analysis of the three families showed a minimal disease-gene region from D7S512 to D7S684, a distance of 11.1 cM and ...
Analysis of LOXL1 polymorphisms in a United States population with pseudoexfoliation glaucoma.
The risk alleles at these three and several other intragenic SNPs are part of an extended XFG-associated LOXL1 haplotype with a ...
Are single nucleotide polymorphisms associated with pelvic organ prolapse?
Haplotyping indicated significant linkage between MMP10 and all others except MMP2. CONCLUSIONS: The C allele for MMP10 may ... and haplotype frequencies were estimated. RESULTS: All subjects were white with comparable age, parity, and weight. Sixty-two ...