Library

X
feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    Electronic Resource
    Electronic Resource
    Insulin receptor substrate-1 gene mutations in NIDDM; implications for the study of polygenic disease (1995)
    Springer
    Diabetologia 38 (1995), S. 481-486 
    Details
    ISSN: 1432-0428
    Keywords: Insulin receptor substrate-1 ; gene mutations ; non-insulin-dependent diabetes mellitus
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Variations in the coding regions of the insulin receptor substrate-1 (IRS-1) gene have recently been suggested to contribute to the susceptibility of non-insulin-dependent diabetes mellitus (NIDDM). The purpose of this study was to examine the role of the IRS-1 missense mutations at codons 972 (glycine to arginine) and 513 (alanine to proline) in two diverse populations from South India and Finland at high risk for NIDDM. DNA was amplified and digested with restriction enzymes BstN1 to detect the codon 972 mutation and Dra III to detect the codon 513 mutation. The codon 513 mutation was not found in the study subjects. The codon 972 mutation was present in 10.3% of 126 middle-aged NIDDM subjects and 5.3% of 95 matched control subjects in the South Indians (p=0.17). In elderly Finnish subjects the frequency of the mutation was 7.5% in 40 NIDDM subjects and 7% in 42 matched control subjects. The frequency of codon 972 mutation in the South Indian NIDDM subjects was very similar to the two previously published studies in Danish and French subjects although each study individually fails to reach conventional levels of significance. The data from all four ethnic groups were analysed together after ascertaining that significant heterogeneity did not exist between the studies. Overall, the frequency of the codon 972 mutation is found in 10.7% NIDDM subjects and 5.8% control subjects (p = 0.02). These studies suggest that the codon 972 mutation of the IRS-1 gene might act as a susceptibility gene predisposing to NIDDM in certain ethnic groups.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00410287
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Insulin receptor substrate-1 gene mutations in NIDDM; implications for the study of polygenic disease (1995)
    Springer
    Diabetologia 38 (1995), S. 481-486 
    Details
    ISSN: 1432-0428
    Keywords: Key words Insulin receptor substrate-1 ; gene mutations ; non-insulin-dependent diabetes mellitus.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Variations in the coding regions of the insulin receptor substrate-1 (IRS-1) gene have recently been suggested to contribute to the susceptibility of non-insulin-dependent diabetes mellitus (NIDDM). The purpose of this study was to examine the role of the IRS-1 missense mutations at codons 972 (glycine to arginine) and 513 (alanine to proline) in two diverse populations from South India and Finland at high risk for NIDDM. DNA was amplified and digested with restriction enzymes BstN1 to detect the codon 972 mutation and Dra III to detect the codon 513 mutation. The codon 513 mutation was not found in the study subjects. The codon 972 mutation was present in 10.3 % of 126 middle-aged NIDDM subjects and 5.3 % of 95 matched control subjects in the South Indians (p = 0.17). In elderly Finnish subjects the frequency of the mutation was 7.5 % in 40 NIDDM subjects and 7 % in 42 matched control subjects. The frequency of codon 972 mutation in the South Indian NIDDM subjects was very similar to the two previously published studies in Danish and French subjects although each study individually fails to reach conventional levels of significance. The data from all four ethnic groups were analysed together after ascertaining that significant heterogeneity did not exist between the studies. Overall, the frequency of the codon 972 mutation is found in 10.7 % NIDDM subjects and 5.8 % control subjects (p = 0.02). These studies suggest that the codon 972 mutation of the IRS-1 gene might act as a susceptibility gene predisposing to NIDDM in certain ethnic groups. [Diabetologia (1995) 38: 481–486]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00410287
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    The genetic susceptibility to type 1 (insulin-dependent) diabetes: Analysis of the HLA-DR association (1983)
    Springer
    Diabetologia 24 (1983), S. 224-230 
    Details
    ISSN: 1432-0428
    Keywords: Type 1 diabetes ; HLA-DR genotypes ; genetic susceptibility
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary HLA-DR and MT1, MT2, MT3 genotypes have been investigated in 123 Type 1 (insulin-dependent) diabetic subjects and their families. Ninety-eight percent of probands possessed either DR3 (relative risk = 5.0), or DR4 (relative risk = 6.8) or both antigens (relative risk = 14.3), emphasizing the strong association of the disease with these two antigens. Almost 51% of the probands were DR3, DR4 heterozygotes. The DR antigen combinations of the parents leading to DR3, DR4 heterozygous and to DR3 and DR4 homozygous offspring were analysed. There was a marked increase in DR3, DR4 heterozygosity, but no increase in homozygosity for these antigens compared with the expected frequencies. These results are compatible with the existence of two susceptibility genes operating at a locus or at loci closely linked to that of HLA-DR. There was a striking reduction of DR7 (relative risk = 0.1) and only five probands possessed DR2 (relative risk = 0.1). In each case, the other inherited allele was DR3 or DR4. Linkage disequilibrium between B7 and DR2 was much lower in the haplotypes of the probands than in the ‘non-diabetic’ parental haplotype. In contrast, the association of BW62 with DR4 was more pronounced in the haplotypes of the probands. There was no increase in recombination frequency in these families and no strong effect of HLA-DR on age of onset could be demonstrated. There was a significant shift towards DR identity compared with identity for the whole HLA haplotype (A, B, C and DR) in both healthy and diabetic siblings (p 〈 0.025).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00282704
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 4
    Electronic Resource
    Electronic Resource
    Increasing trend in Type 1 (insulin-dependent) diabetes mellitus in childhood in Finland (1991)
    Springer
    Diabetologia 34 (1991), S. 282-287 
    Details
    ISSN: 1432-0428
    Keywords: Type 1 diabetes ; incidence ; epidemiology ; time trends ; Finland
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The Central Drug Registry in Finland ascertained 5,920 incident cases of Type 1 (insulin-dependent) diabetes mellitus diagnosed under the age of 15 years, during 1965–1984. The incidence was higher for males 29.2/100,000 (95% confidence intervals 28.2–30.2/100,000) than for females 26.1/100,000 (25.1–27.1/100,000). A non-linear increase in incidence with age was confirmed, with peaks at ages 2,9 and 14 years in males and at 3,5–6 and 11 years in females. A significant temporal variation in incidence was found, adjusting for age and sex. During 1965 to 1984 the incidence rose by about 57% or by 2.4% annually. However, a non-linear curve with two incidence peaks in 1978 and 1983 would better describe the temporal pattern than a linear trend. There was no significant difference in the temporal variation between males and females. The changes in diabetes risk appeared to affect proportionally all age groups under 15 years. Two possible mechanisms were explored: a calendar period effect vs a birth cohort effect. The calendar time period effect was significant alone and also when adjusted for the birth cohort effect. One the contrary, the birth cohort effect was not significant, when adjusted for the calendar period effect. In conclusion, over the past two decades, the incidence of childhood Type 1 diabetes in Finland has increased by about 57%. The pattern of change was a steady rising background incidence superimposed by sudden outbreaks suggesting environmental causative factors.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00405089
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...