RESUMO
Allele frequencies and haplotypes for 12 Y-chromosome STR loci (DYS19, DYS385a/b, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438 and DYS439), included in the PowerPlex Y multiplex kit, were determined for a Swiss population sample of 150 male individuals. The gene diversities for the different loci were in the same range as shown for other European Population samples. The haplotype diversity was 0.9922. Pairwise haplotype analysis showed no significant differences in comparison with other European Population samples.
Assuntos
Cromossomos Humanos Y , Frequência do Gene , Genética Populacional , Haplótipos , Sequências de Repetição em Tandem , Impressões Digitais de DNA , Humanos , Masculino , Reação em Cadeia da Polimerase , SuíçaRESUMO
The fat mass and obesity associated gene ( FTO) is associated with bodyweight and obesity. The aim of this study was to investigate if FTO genotype affects weight gain in adulthood. We investigated the weight development over a period of 11 years in a case-control study, consisting of 1,632 cases (BMI≥35 kg/m (2)) and 3,379 normal weight controls (BMI 20-24.9 kg/m (2)) from a Norwegian population based cohort, the HUNT study. Subjects were aged 20-80 at baseline, 25% men and 75% women. FTO genotype was assessed by genotyping of the SNP rs1421085. A strong association between FTO and obesity was found, consistent with an additive gene effect. Cases had an average weight gain of 11.1 kg, whereas controls had an average weight gain of 1.4 kg. Genotype was neither associated with weight gain in obese, nor controls. Cases had an average weight gain of 10.7 kg for individuals with zero risk alleles, 11.3 for one risk allele and 11.1 kg for two risk alleles. Controls had an average weight gain of 1.4 kg, 1.4 and 1.3 for the respective genotypes. In conclusion, FTO was associated with obesity, but not with weight gain in adults during 11 years of follow-up.
Assuntos
Peso Corporal Ideal/genética , Proteínas/genética , Aumento de Peso/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Dioxigenase FTO Dependente de alfa-Cetoglutarato , Estudos de Casos e Controles , Estudos de Coortes , Feminino , Seguimentos , Frequência do Gene , Estudos de Associação Genética , Predisposição Genética para Doença , Genética Populacional , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Noruega , Obesidade/genética , Polimorfismo de Nucleotídeo ÚnicoRESUMO
BACKGROUND: Mutations in the melanocortin 4 receptor ( MC4R) gene are the most frequent cause of monogenic forms of obesity, but the reported prevalences of mutations in obese individuals diverge, varying from 0.2 to 5.8%. OBJECTIVE: The aim of this study was to assess the prevalence of MC4R mutations in obese children and adults residing in Norway. SUBJECTS AND METHODS: We sequenced the coding region of MC4R in 1 027 obese patients. Among these, were 644 adults with a BMI >35 kg/m(2) and 383 children with a body weight >97.5 percentile for height. Identified mutations were analyzed by family studies and a bioinformatic approach including comparative sequence analysis and prediction of impact on transmembrane helix and three dimensional structure. RESULTS: Nine mutations were identified, of which four were novel and five previously described. The prevalence of MC4R mutations was 1.6% in pediatric and 0.8% in adult patients. All four novel mutations, I69R, M79I, I195S, and M200del were identified among pediatric patients. M79I was found in an ethnic Norwegian patient, while the rest were identified in second generation immigrants. The previously described mutations Y35X/D37V, V95I, T150I, R236C and V253I were identified in one pediatric and five adult patients. None of the adult patients reported childhood onset of obesity. The M200del mutation was found in a homozygous state, while the rest were heterozygous. CONCLUSION: MC4R mutations are not a common cause of obesity in Norway and screening of obese patients does not appear to be warranted. The results are consistent with results from previous studies.