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  • 1
    Publication Date: 2007-05-05
    Description: The global endemic of cardiovascular diseases calls for improved risk assessment and treatment. Here, we describe an association between myocardial infarction (MI) and a common sequence variant on chromosome 9p21. This study included a total of 4587 cases and 12,767 controls. The identified variant, adjacent to the tumor suppressor genes CDKN2A and CDKN2B, was associated with the disease with high significance. Approximately 21% of individuals in the population are homozygous for this variant, and their estimated risk of suffering myocardial infarction is 1.64 times as great as that of noncarriers. The corresponding risk is 2.02 times as great for early-onset cases. The population attributable risk is 21% for MI in general and 31% for early-onset cases.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Helgadottir, Anna -- Thorleifsson, Gudmar -- Manolescu, Andrei -- Gretarsdottir, Solveig -- Blondal, Thorarinn -- Jonasdottir, Aslaug -- Jonasdottir, Adalbjorg -- Sigurdsson, Asgeir -- Baker, Adam -- Palsson, Arnar -- Masson, Gisli -- Gudbjartsson, Daniel F -- Magnusson, Kristinn P -- Andersen, Karl -- Levey, Allan I -- Backman, Valgerdur M -- Matthiasdottir, Sigurborg -- Jonsdottir, Thorbjorg -- Palsson, Stefan -- Einarsdottir, Helga -- Gunnarsdottir, Steinunn -- Gylfason, Arnaldur -- Vaccarino, Viola -- Hooper, W Craig -- Reilly, Muredach P -- Granger, Christopher B -- Austin, Harland -- Rader, Daniel J -- Shah, Svati H -- Quyyumi, Arshed A -- Gulcher, Jeffrey R -- Thorgeirsson, Gudmundur -- Thorsteinsdottir, Unnur -- Kong, Augustine -- Stefansson, Kari -- New York, N.Y. -- Science. 2007 Jun 8;316(5830):1491-3. Epub 2007 May 3.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉deCODE genetics, Sturlugata 8, IS-101 Reykjavik, Iceland.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/17478679" target="_blank"〉PubMed〈/a〉
    Keywords: Age of Onset ; Aged ; Case-Control Studies ; Chromosome Mapping ; Chromosomes, Human, Pair 9/*genetics ; Coronary Artery Disease/genetics ; Female ; Genes, p16 ; *Genetic Predisposition to Disease ; *Genetic Variation ; Genotype ; Haplotypes ; Heterozygote ; Homozygote ; Humans ; Linkage Disequilibrium ; Male ; Middle Aged ; Myocardial Infarction/*genetics ; *Polymorphism, Single Nucleotide ; Risk Factors
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 2
    Publication Date: 2008-02-09
    Description: Previous studies have reported that related human couples tend to produce more children than unrelated couples but have been unable to determine whether this difference is biological or stems from socioeconomic variables. Our results, drawn from all known couples of the Icelandic population born between 1800 and 1965, show a significant positive association between kinship and fertility, with the greatest reproductive success observed for couples related at the level of third and fourth cousins. Owing to the relative socioeconomic homogeneity of Icelanders, and the observation of highly significant differences in the fertility of couples separated by very fine intervals of kinship, we conclude that this association is likely to have a biological basis.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Helgason, Agnar -- Palsson, Saebjorn -- Gudbjartsson, Daniel F -- Kristjansson, Thornordur -- Stefansson, Kari -- New York, N.Y. -- Science. 2008 Feb 8;319(5864):813-6. doi: 10.1126/science.1150232.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland. agnar@decode.is〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/18258915" target="_blank"〉PubMed〈/a〉
    Keywords: Consanguinity ; *Family ; *Family Characteristics ; Female ; *Fertility ; Humans ; Iceland ; Male ; Socioeconomic Factors
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 3
    Publication Date: 2008-02-02
    Description: The genome-wide recombination rate varies between individuals, but the mechanism controlling this variation in humans has remained elusive. A genome-wide search identified sequence variants in the 4p16.3 region correlated with recombination rate in both males and females. These variants are located in the RNF212 gene, a putative ortholog of the ZHP-3 gene that is essential for recombinations and chiasma formation in Caenorhabditis elegans. It is noteworthy that the haplotype formed by two single-nucleotide polymorphisms (SNPs) associated with the highest recombination rate in males is associated with a low recombination rate in females. Consequently, if the frequency of the haplotype changes, the average recombination rate will increase for one sex and decrease for the other, but the sex-averaged recombination rate of the population can stay relatively constant.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Kong, Augustine -- Thorleifsson, Gudmar -- Stefansson, Hreinn -- Masson, Gisli -- Helgason, Agnar -- Gudbjartsson, Daniel F -- Jonsdottir, Gudrun M -- Gudjonsson, Sigurjon A -- Sverrisson, Sverrir -- Thorlacius, Theodora -- Jonasdottir, Aslaug -- Hardarson, Gudmundur A -- Palsson, Stefan T -- Frigge, Michael L -- Gulcher, Jeffrey R -- Thorsteinsdottir, Unnur -- Stefansson, Kari -- New York, N.Y. -- Science. 2008 Mar 7;319(5868):1398-401. doi: 10.1126/science.1152422. Epub 2008 Jan 31.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉deCODE Genetics Inc, 101 Reykjavik, Iceland. kong@decode.is〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/18239089" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Chromosomes, Human, Pair 4/*genetics ; Fathers ; Female ; *Genome, Human ; Haplotypes ; Humans ; Linkage Disequilibrium ; Male ; Meiosis ; Molecular Sequence Data ; Mothers ; Polymorphism, Single Nucleotide ; *Recombination, Genetic ; Sex Characteristics ; Synaptonemal Complex/metabolism ; Ubiquitin-Protein Ligases/*genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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