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  • 1
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    Haplotype variation and linkage disequilibrium in 313 human genes (2001)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2001-07-14
    Description: Variation within genes has important implications for all biological traits. We identified 3899 single nucleotide polymorphisms (SNPs) that were present within 313 genes from 82 unrelated individuals of diverse ancestry, and we organized the SNPs into 4304 different haplotypes. Each gene had several variable SNPs and haplotypes that were present in all populations, as well as a number that were population-specific. Pairs of SNPs exhibited variability in the degree of linkage disequilibrium that was a function of their location within a gene, distance from each other, population distribution, and population frequency. Haplotypes generally had more information content (heterozygosity) than did individual SNPs. Our analysis of the pattern of variation strongly supports the recent expansion of the human population.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Stephens, J C -- Schneider, J A -- Tanguay, D A -- Choi, J -- Acharya, T -- Stanley, S E -- Jiang, R -- Messer, C J -- Chew, A -- Han, J H -- Duan, J -- Carr, J L -- Lee, M S -- Koshy, B -- Kumar, A M -- Zhang, G -- Newell, W R -- Windemuth, A -- Xu, C -- Kalbfleisch, T S -- Shaner, S L -- Arnold, K -- Schulz, V -- Drysdale, C M -- Nandabalan, K -- Judson, R S -- Ruano, G -- Vovis, G F -- New York, N.Y. -- Science. 2001 Jul 20;293(5529):489-93. Epub 2001 Jul 12.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Genaissance Pharmaceuticals, Inc., Five Science Park, New Haven, CT 06511, USA. c.stephens@genaissance.com〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/11452081" target="_blank"〉PubMed〈/a〉
    Keywords: African Continental Ancestry Group/genetics ; Alleles ; Animals ; Asian Continental Ancestry Group/genetics ; Dinucleoside Phosphates/genetics ; European Continental Ancestry Group/genetics ; Evolution, Molecular ; Female ; *Genetic Variation ; *Haplotypes ; Heterozygote ; Hispanic Americans/genetics ; Humans ; *Linkage Disequilibrium ; Male ; Mutation ; Pan troglodytes/genetics ; *Polymorphism, Single Nucleotide ; X Chromosome/genetics
    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)
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  • 2
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    Complement factor H polymorphism in age-related macular degeneration (2005)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2005-03-12
    Description: Age-related macular degeneration (AMD) is a major cause of blindness in the elderly. We report a genome-wide screen of 96 cases and 50 controls for polymorphisms associated with AMD. Among 116,204 single-nucleotide polymorphisms genotyped, an intronic and common variant in the complement factor H gene (CFH) is strongly associated with AMD (nominal P value 〈10(-7)). In individuals homozygous for the risk allele, the likelihood of AMD is increased by a factor of 7.4 (95% confidence interval 2.9 to 19). Resequencing revealed a polymorphism in linkage disequilibrium with the risk allele representing a tyrosine-histidine change at amino acid 402. This polymorphism is in a region of CFH that binds heparin and C-reactive protein. The CFH gene is located on chromosome 1 in a region repeatedly linked to AMD in family-based studies.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1512523/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1512523/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Klein, Robert J -- Zeiss, Caroline -- Chew, Emily Y -- Tsai, Jen-Yue -- Sackler, Richard S -- Haynes, Chad -- Henning, Alice K -- SanGiovanni, John Paul -- Mane, Shrikant M -- Mayne, Susan T -- Bracken, Michael B -- Ferris, Frederick L -- Ott, Jurg -- Barnstable, Colin -- Hoh, Josephine -- K01RR16090/RR/NCRR NIH HHS/ -- K25HG000060/HG/NHGRI NIH HHS/ -- R01EY015771/EY/NEI NIH HHS/ -- R01MH44292/MH/NIMH NIH HHS/ -- Z99 EY999999/Intramural NIH HHS/ -- ZIA EY000489-01/Intramural NIH HHS/ -- New York, N.Y. -- Science. 2005 Apr 15;308(5720):385-9. Epub 2005 Mar 10.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Laboratory of Statistical Genetics, Rockefeller University, 1230 York Avenue, New York, NY 10021, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/15761122" target="_blank"〉PubMed〈/a〉
    Keywords: Aged ; Aged, 80 and over ; Aging ; Alleles ; Amino Acid Substitution ; Case-Control Studies ; Choroid/immunology ; Chromosomes, Human, Pair 1/genetics ; Complement Factor H/chemistry/*genetics/physiology ; Complement Membrane Attack Complex/analysis ; Exons ; Female ; Genetic Markers ; Genetic Predisposition to Disease ; Genotype ; Haplotypes ; Histidine/genetics ; Humans ; Immunity, Innate ; Introns ; Linkage Disequilibrium ; Macular Degeneration/*genetics ; Male ; Oligonucleotide Array Sequence Analysis ; Pigment Epithelium of Eye/immunology ; Polymorphism, Genetic ; *Polymorphism, Single Nucleotide ; Risk Factors ; Smoking
    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)
    Location Call Number Expected Availability
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    PAPER CURRENT
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