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  • 1
    Electronic Resource
    Electronic Resource
    Genetic studies of neuropeptide Y and neuropeptide Y receptors Y1 and Y5 regions in morbid obesity (1997)
    Springer
    Diabetologia 40 (1997), S. 671-675 
    Details
    ISSN: 1432-0428
    Keywords: Keywords Obesity ; genetic ; body mass index ; neuropeptide Y ; neuropeptide Y receptors ; leptin.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Synthesis and release of neuropeptide Y (NPY) are both regulated by leptin binding to its hypothalamic receptor mediating some of the effects of leptin on food intake. Moreover, NPY administration is a powerful stimulant of feeding behaviour. Thus, we investigated the potential implication of NPY, NPY-Y1 and -Y5 subtype receptors [rNPY-Y1/-Y5] in the development of human obesity. Two complementary genetic approaches were used: 1) linkage analyses between obesity and polymorphic markers located nearby NPY and rNPY-Y1/-Y5 genes (respectively on chromosomes 7p15.1 and 4q[31.3–32]) in 93 French Caucasian morbidly obese families; 2) single strand conformation polymorphism (SSCP) scanning of the coding region of the NPY and rNPY-Y1 genes performed in 50 unrelated obese patients ascertained on the basis of a body mass index of 27 kg/m2 or more and a family history of obesity. No evidence of linkage between morbid obesity or obesity-related quantitative traits and NPY and rNPY-Y1/Y5 regions was found in this population. Moreover, SSCP scanning revealed no mutation in the coding region of NPY and rNPY-Y1 genes among obese subjects. These results suggest that NPY and NPY-Y1/Y5 receptors are unlikely to be implicated in the development of human morbid obesity, at least in the French Caucasian population. [Diabetologia (1997) 40: 671–675]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001250050732
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  • 2
    Electronic Resource
    Electronic Resource
    Maternal diabetes alters birth weight in glucokinase-deficient (MODY2) kindred but has no influence on adult weight, height, insulin secretion or insulin sensitivity (2000)
    Springer
    Diabetologia 43 (2000), S. 1060-1063 
    Details
    ISSN: 1432-0428
    Keywords: Keywords MODY ; glucokinase mutations ; low birth weight ; macrosomia ; gestational diabetes ; insulin secretion defect.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Aims/hypothesis. Altered fetal insulin secretion caused by fetal or maternal glucokinase mutations influence birth weight. Here, we attempt to answer two additional questions: firstly, whether this variation in birth weight (from low birth weight to macrosomia) has an effect on adult height or weight. Secondly, whether maternal hyperglycaemia during fetal life has an effect on metabolic phenotypes of the adult offspring. Methods. We studied 447 family members from 37 MODY2 kindred, divided into four groups according to the presence or absence of a glucokinase mutation in the subject (S + or S–, respectively) and his/her mother (M + or M–). Birth weight data were obtained from a questionnaire sent to the mothers. Results. Birth weight was reduced in the presence of a fetal mutation (M–S + ) and increased in the presence of a maternal mutation (M + S–). These effects are additive as similar birth weights were observed in M + S + and M–S– offspring. Adult height, weight or body mass index (weight/height2) were, however, similar in the four groups of subjects. Non-diabetic adult offspring, regardless of the glycaemic status of the mothers (M + S– or M–S–), had similar insulin secretion, insulin sensitivity, blood pressures and lipid profiles. These variables as well as the severity of hyperglycaemia were similar in adult M + S + and M–S + MODY2 subjects. Conclusion/Interpretation. Maternal environment and fetal genotypes could alter growth in utero by changing fetal insulin secretion but these effects do not result in a persistent programming in latter life. [Diabetologia (2000) 43: 1060–1063]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001250051490
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  • 3
    Electronic Resource
    Electronic Resource
    Strategies for the collection of sibling-pair data for genetic studies in Type 2 (non-insulin-dependent) diabetes mellitus (1991)
    Springer
    Diabetologia 34 (1991), S. 685-685 
    Details
    ISSN: 1432-0428
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00401001
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  • 4
    Electronic Resource
    Electronic Resource
    The genetics of non-insulin-dependent diabetes mellitus: tools and aims (1994)
    Springer
    Diabetologia 37 (1994), S. 959-968 
    Details
    ISSN: 1432-0428
    Keywords: Non-insulin-dependent diabetes mellitus ; genetics ; linkage analysis ; population association studies ; complex inheritance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00400458
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  • 5
    Electronic Resource
    Electronic Resource
    The genetics of non-insulin-dependent diabetes mellitus: tools and aims (1994)
    Springer
    Diabetologia 37 (1994), S. 959-968 
    Details
    ISSN: 1432-0428
    Keywords: Key words Non-insulin-dependent diabetes mellitus ; genetics ; linkage analysis ; population association studies ; complex inheritance.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00400458
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  • 6
    Electronic Resource
    Electronic Resource
    Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families (1997)
    Springer
    Diabetologia 40 (1997), S. 217-224 
    Details
    ISSN: 1432-0428
    Keywords: Keywords Diabetes mellitus ; MODY ; glucokinase mutations ; insulin secretion ; genetics.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Mutations in glucokinase are associated with defects in insulin secretion and hepatic glycogen synthesis resulting in mild chronic hyperglycaemia, impaired glucose tolerance or diabetes mellitus. We screened members of 35 families with features of maturity-onset diabetes of the young for mutations in the glucokinase gene and found 16 different mutations. They included 14 new mutations in the glucokinase gene: 9 missense mutations (A53S, G80A, H137R, T168P, M210T, C213R, V226M, S336L and V367M); 2 nonsense mutations (E248X and S360X); a deletion of one nucleotide resulting in a frameshift (V401del1); a substitution of a conserved nucleotide at a splice acceptor site (L122-1G → T); and a 10 base pair deletion that removed the GT of the splice donor site and the following eight nucleotides (K161 + 2del10). In addition, we found two previously identified mutations: R186X and G261R. Study of 260 subjects with glucokinase-deficient hyperglycaemia from 42 families with 36 different GCK mutations made it possible to define the clinical profile of this subtype of non-insulin-dependent diabetes mellitus (NIDDM). Hyperglycaemia due to glucokinase deficiency is often mild (fewer than 50 % of subjects have overt diabetes) and is evident during the early years of life. Despite the long duration of hyperglycaemia, glucokinase-deficient subjects have a low prevalence of micro- and macro-vascular complications of diabetes. Obesity, arterial hypertension and dyslipidaemia are also uncommon in this form of NIDDM. [Diabetologia (1997) 40: 217–224]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001250050666
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  • 7
    Electronic Resource
    Electronic Resource
    An uncoupling protein 3 gene polymorphism associated with a lower risk of developing Type II diabetes and with atherogenic lipid profile in a French cohort (2000)
    Springer
    Diabetologia 43 (2000), S. 1424-1428 
    Details
    ISSN: 1432-0428
    Keywords: Keywords Uncoupling protein (UCP), polymorphism, Type II diabetes, obesity.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Aims/hypothesis. The UCP2-UCP3 gene region has been previously associated with obesity and diabetes. In a large representative cohort of Northern France (MONICA project), we studied the effect of a recently reported C/T polymorphism located in the 5' sequences of the UCP3 gene on anthropometric measurements and lipid profile. We also examined the association of this polymorphism with obesity and Type II (non-insulin-dependent) diabetes mellitus.¶Methods. The –55 C/T polymorphism of the UCP3 gene has been genotyped in 1155 subjects from the MONICA project. Association studies were done with diabetes, obesity and related phenotypes. Results were ascertained in a second cohort of well-characterized Type II diabetic and control subjects.¶Results. The variant T allele was associated with a decreased risk of developing Type II diabetes. Frequencies of the T allele were 13.3 % compared with 22 %, p = 0.04, in the diabetic and control groups, respectively. This observation was confirmed in the second cohort of French Type II diabetic (n = 171) and control (n = 124) subjects: 17.8 % compared with 25 %, p = 0.03. Moreover, subjects bearing the TT genotype had higher plasma total cholesterol and LDL-cholesterol concentrations (p = 0.0006 and p = 0.001, respectively) than subjects bearing wild or heterozygous genotypes.¶Conclusion/interpretation. The UCP3–55 C/T polymorphism was associated with a higher atherogenic profile and modified the risk for the development of Type II diabetes. [Diabetologia (2000) 43: 1424–1428]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001250051549
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  • 8
    Electronic Resource
    Electronic Resource
    Association of elevated lipoprotein(a) levels and coronary heart disease in NIDDM patients. Relationship with apolipoprotein(a) phenotypes (1994)
    Springer
    Diabetologia 37 (1994), S. 585-591 
    Details
    ISSN: 1432-0428
    Keywords: NIDDM ; lipoprotein(a) ; apo(a) isoforms ; coronary heart disease ; lipids ; lipoproteins ; cardiovascular risk factors
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Non-insulin-dependent diabetes mellitus (NIDDM) is a strong and independent risk factor for coronary heart disease. We assessed the potential relationship between plasma Lp(a) levels, apo(a) phenotypes and coronary heart disease in a population of NIDDM patients. Seventy-one patients with coronary heart disease, who previously have had transmural myocardial infarction, or significant stenosis on coronary angiography, or positive myocardial thallium scintigraphy, or in combination, were compared with 67 patients without coronary heart disease, who tested negatively upon either coronary angiography, myocardial thallium scintigraphy or a maximal exercise test. The prevalence of plasma Lp(a) levels elevated above the threshold for increased cardiovascular risk (〉0.30 g/l) was significantly higher (p=0.005) in patients with coronary heart disease (33.8%) compared to the control group (13.4%). The relative risk (odds ratio) of coronary heart disease among patients with high Lp(a) concentrations was 3.1 (95% confidence interval, 1.31–7.34;p=0.01). The overall frequency distribution of apo(a) phenotypes differed significantly between the two groups (p=0.043). However, the frequency of apo(a) isoforms of low apparent molecular mass (≤700 kDa) was of borderline significance (p=0.067) between patients with or without coronary heart disease (29.6% and 16.4%, respectively). In this Caucasian population of NIDDM patients, elevated Lp(a) levels were associated with coronary heart disease, an association which was partially accounted for by the higher frequency of apo(a) isoforms of small size. In multivariate analyses, elevated levels of Lp(a) were independently associated with coronary heart disease (odds ratio 3.48, p=0.0233).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00403377
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  • 9
    Electronic Resource
    Electronic Resource
    Missense mutations in the pancreatic islet beta cell inwardly rectifying K+ channel gene (KIR6.2/BIR ): a meta-analysis suggests a role in the polygenic basis of Type II diabetes mellitus in Caucasians (1998)
    Springer
    Diabetologia 41 (1998), S. 1511-1515 
    Details
    ISSN: 1432-0428
    Keywords: Keywords Type II (non-insulin-dependent) diabetes mellitus ; gene ; inwardly rectifier potassium channel ; mutation.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The K+ inwardly rectifier channel (KIR) is one of the two sub-units of the pancreatic islet ATP-sensitive potassium channel complex (IKATP), which has a key role in glucose-stimulated insulin secretion and thus is a potential candidate for a genetic defect in Type II (non-insulin-dependent) diabetes mellitus. We did a molecular screening of the KIR6.2 gene by single strand conformational polymorphism (SSCP) and direct sequencing in 72 French Caucasian Type II diabetic families. We identified three nucleotide substitutions resulting in three amino acid changes (E23K, L270V and I337V), that have also been identified in other Caucasian Type II diabetic subjects. These variants were genotyped in French cohorts of 191 unrelated Type II diabetic probands and 119 normoglycaemic control subjects and association studies were done. The genotype frequencies of the L270V and I337V variants were not very different between Type II diabetic subjects and control groups. In contrast, analysis of the E23K variant showed that the KK homozygocity was more frequent in Type II diabetic than in control subjects (27 vs 14 %, p = 0.015). Analyses in a recessive model (KK vs EK/EE) tended to show a stronger association of the K allele with diabetes (p = 0.0097, corrected p-value for multiple testing 〈 0.02). The data for the E23K variant obtained here and those obtained from three other Caucasian groups studied so far were combined and investigated by meta-analysis. Overall, the E23K variant was found to be significantly associated with Type II diabetes (0.001 ≤p≤ 0.0016, corrected p-values for multiple testing p≤ 0.01). This study shows that KIR6.2 polymorphisms are frequently associated with Type II diabetes in French Caucasians. Furthermore, a meta-analysis combining different Caucasian groups suggests an significant role of KIR6.2 in the polygenic context of Type II diabetes. [Diabetologia (1998) 41: 1511–1515]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001250051098
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  • 10
    Electronic Resource
    Electronic Resource
    A genetic variation in the 5 ′ flanking region of the UCP3 gene is associated with body mass index in humans in interaction with physical activity (2000)
    Springer
    Diabetologia 43 (2000), S. 245-249 
    Details
    ISSN: 1432-0428
    Keywords: Keywords Uncoupling protein (UCP), promoter, mutation, polymorphism, obesity, body mass index (BMI).
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Aims/hypothesis. In obese French Caucasian subjects we previously described a silent UCP3 Tyr99Tyr mutation, associated with body mass index. We hypothesised that an unknown polymorphism in the vicinity of the gene could contribute to obesity.¶Methods. Morbidly obese subjects were screened for mutations in 1 kb upstream from the UCP3 gene. Association studies were done between a variant and obesity in 401 morbidly obese and 231 control subjects.¶Results. We detected three rare genetic variants and one polymorphism: a + 5 G→A in exon 1, a –155 C→T, a –439 A insertion and a –55 C→T located 6 bp from the putative TATA box. This variant was in linkage disequilibrium with the Tyr99Tyr polymorphism. Frequencies of the variant allele at the –55 locus were similar in the obese and control groups (0.23 vs 0.21). The –55 polymorphism was associated with BMI in the obese group (p = 0.0031): BMI was higher in TT than in CC or CT patients. Likewise control subjects with a TT genotype had a higher BMI (p = 0.03). In the obese group, homozygocity for this variant is a risk factor for high BMI (odds ratio: 1:75, p = 0.02). Obese patients were divided into tertiles according to physical activity. In the group with a wild C/C genotype, BMI was negatively associated with physical activity (p = 0.015).¶Conclusion/interpretation. The C→T polymorphism in the 5 ′ sequences of the UCP3 gene might contribute to the corpulence in obese and normal weight subjects and alter the benefit of physical activity. The UCP3 gene can be considered as a gene modifying corpulence. [Diabetologia (2000) 43: 245–249]
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001250050037
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