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  • 1
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Mutations of HFE are responsible for haemochromatosis, and a 5474A mutation (g.5474G→A, C282Y) was found to be present in 83–100% of typical patients with this disorder. Previous studies have determined the prevalence of haemochromatosis by restriction endonuclease digestion or ...
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  • 2
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature medicine 9 (2003), S. 644-645 
    ISSN: 1546-170X
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Hutchinson-Gilford progeria syndrome (HGPS), an extremely rare from of accelerated aging in childhood, is the latest and most conspicuous entry into the expanding catalogue of 'laminopathies', diseases caused by mutations affecting nuclear lamina proteins. Three recent studies in humans and one in ...
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  • 3
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature America Inc.
    Nature medicine 6 (2000), S. 136-137 
    ISSN: 1546-170X
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Naturally occurring mutations within the LMNA gene, which encodes nuclear lamin, have been identified in patients with three rare and apparently unrelated diseases. Understanding how these mutations cause disease will improve our knowledge of nuclear envelope function, as well as the pathogenesis ...
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Molecular and cellular biochemistry 113 (1992), S. 177-186 
    ISSN: 1573-4919
    Keywords: dyslipidemia ; segregation analysis ; inbred mice ; linkage analysis ; dietary fat
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology , Medicine
    Notes: Abstract The importance of environment and genetics working together to shape an individual's risk for atherosclerosis seems intuitively obvious. However, it is only recently that research strategies have begun to evolve that attempt to answer questions related to apportionment of risk that is due to specific environmental and genetic factors. These factors may impact upon risk either singly or, more likely, through a complex interaction that affects the metabolic history of the whole organism. Because the genetic bases of lipid and lipoprotein metabolism have been well-studied, and because of the epidemiologic and pathobiochemical associations between genetic disorders of lipid metabolism and atherosclerosis, researchers have searched for gene-environment interactions within animal and human systems in which the phenotype is defined by some index of lipoprotein metabolism. From work done in the lipoprotein area to this point a clear case can be made for: 1) the genetic influence over the phenotypic response to an environmental stimulus; 2) the environmental modulation of the phenotypic expression of severe genetic defects. In the realm of gene-environment interactions that affect lipoprotein phenotype, diet is the best-studied environmental factor.
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Journal of human genetics 45 (2000), S. 100-101 
    ISSN: 1435-232X
    Keywords: Key words Atherosclerosis ; Inflammation ; Risk factor
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We found a novel G → C change at nucleotide 1059 within exon 2 of the CRP gene encoding the C-reactive protein. The CRP 1059G/C polymorphism could be detected by digestion with endonuclease MaeIII. The frequency of the CRP 1059C allele was 0.109 in Caucasians, but it was absent from Canadian Oji-Cree. Because of the importance of the CRP gene product in inflammation and its recent association with ischemic heart disease syndromes, this polymorphism may be useful in the association studies of atherosclerosis and its related phenotypes.
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Journal of human genetics 45 (2000), S. 94-95 
    ISSN: 1435-232X
    Keywords: Key words Atherosclerosis ; Arterial wall matrix ; Lipodystrophy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We found a novel G → A change at nucleotide −25 within the promoter of the CTSS gene encoding the elastase cathepsin S. The CTSS−25G/A polymorphism could be detected by digestion with endonuclease BfmI. The frequency of the CTSS−25A allele was 0.457 in Caucasians and 0.431 in Canadian Inuit. Because of the importance of the CTSS gene product in vascular matrix remodeling, this polymorphism may be useful in the study of associations with atherosclerosis and related phenotypes.
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  • 7
    ISSN: 1435-232X
    Keywords: Key words Complex disease ; Cardiovascular ; Sodium ; Aboriginal populations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Since adducin modulates cellular sodium retention, its follows that ADD1, which encodes the α-subunit of adducin, is an attractive candidate gene for blood pressure variation. Association studies examining the relationship between polymorphism at ADD1 codon 460 (G460W) and both hypertension and blood pressure, which were performed in a variety of human population samples derived from different genetic backgrounds, have given inconsistent results. We examined the association between the ADD1 G460W polymorphism and variation in blood pressure in a sample of non-diabetic, largely normotensive Canadian Oji-Cree from an isolated community in Northern Ontario. Among 481 Oji-Cree subjects, we measured blood pressure and related clinical phenotypes and determined genotypes of ADD1 G460W. We observed an allele frequency of 0.08 for the ADD1 W460 variant, which is among the lowest so far observed in human populations. We found significant associations between variation in both systolic and diastolic blood pressure and gender, age, body mass index (BMI), and treatment for hypertension. However, we found no association between the ADD1 W460 allele and increased blood pressure, nor did we observe a higher frequency of the W460 allele in a hypertensive subgroup compared with normotensive subjects. While the low sample frequency of ADD1 W460 is consistent with the low sample prevalence of hypertension, the absence of a specific association with both blood pressure and hypertension suggests that the ADD1 W460 variant is not an important determinant of blood pressure among individuals of this genetic background.
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    Journal of human genetics 45 (2000), S. 92-93 
    ISSN: 1435-232X
    Keywords: Key words Pharmacogenetics ; Xenobiotics ; Cytochrome P450 ; Lipodystrophy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We found a novel A → C change in codon 511 of the ARNT gene, which predicted the substitution of Asn (AAC) for Asp (GAC) at this position. Amplification using mismatched primers allowed the ARNT D/N511 polymorphism to be detected by digestion with endonuclease Tth111I. The frequency of the ARNT N511 allele was 0.019 in Caucasians and 0.026 in Africans. Because of the importance of the ARNT gene product in the metabolism of xenobiotics, this polymorphism may be useful in the study of associations with metabolic phenotypes and in pharmacogenetic studies.
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Journal of human genetics 45 (2000), S. 98-99 
    ISSN: 1435-232X
    Keywords: Key words Diabetes ; Gene regulation ; Transcription factor
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We found a novel A → G change at nucleotide 1968 within the 3′-untranslated region of the HNF1B gene encoding the hepatocyte nuclear factor-1β. The HNF1B 1968A/G polymorphism could be detected by digestion with endonuclease MspI. The frequency of the HNF1B 1968G allele was 0.060 in Caucasians and 0.129 in Canadian Oji-Cree. Because of the importance of the HNF1B gene product in the regulation of transcription of several hepatic proteins, this polymorphism may be useful in the study of associations with metabolic phenotypes such as diabetes.
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  • 10
    Publication Date: 2007-06-01
    Print ISSN: 0014-4827
    Electronic ISSN: 1090-2422
    Topics: Biology , Medicine
    Published by Elsevier
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