| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T1 |
0-158 |
Sentence |
denotes |
Hepatocyte nuclear factor-6: associations between genetic variability and type II diabetes and between genetic variability and estimates of insulin secretion. |
| T2 |
159-175 |
Sentence |
denotes |
AIMS/HYPOTHESIS: |
| T3 |
176-346 |
Sentence |
denotes |
The transcription factor hepatocyte nuclear factor (HNF)-6 is an upstream regulator of several genes involved in the pathogenesis of maturity-onset diabetes of the young. |
| T4 |
347-561 |
Sentence |
denotes |
We therefore tested the hypothesis that variability in the HNF-6 gene is associated with subsets of Type II (non-insulin-dependent) diabetes mellitus and estimates of insulin secretion in glucose tolerant subjects. |
| T5 |
562-570 |
Sentence |
denotes |
METHODS: |
| T6 |
571-655 |
Sentence |
denotes |
We cloned the coding region as well as the intron-exon boundaries of the HNF-6 gene. |
| T7 |
656-949 |
Sentence |
denotes |
We then examined them on genomic DNA in six MODY probands without mutations in the MODY1, MODY3 and MODY4 genes and in 54 patients with late-onset Type II diabetes by combined single strand conformational polymorphism-heteroduplex analysis followed by direct sequencing of identified variants. |
| T8 |
950-1048 |
Sentence |
denotes |
An identified missense variant was examined in association studies and genotype-phenotype studies. |
| T9 |
1049-1057 |
Sentence |
denotes |
RESULTS: |
| T10 |
1058-1120 |
Sentence |
denotes |
We identified two silent and one missense (Pro75 Ala) variant. |
| T11 |
1121-1369 |
Sentence |
denotes |
In an association study the allelic frequency of the Pro75Ala polymorphism was 3.2% (95% confidence interval, 1.9-4.5) in 330 patients with Type II diabetes mellitus compared with 4.2% (2.4-6.0) in 238 age-matched glucose tolerant control subjects. |
| T12 |
1370-1657 |
Sentence |
denotes |
Moreover, in studies of 238 middle-aged glucose tolerant subjects, of 226 glucose tolerant offspring of Type II diabetic patients and of 367 young healthy subjects, the carriers of the polymorphism did not differ from non-carriers in glucose induced serum insulin or C-peptide responses. |
| T13 |
1658-1684 |
Sentence |
denotes |
CONCLUSION/INTERPRETATION: |
| T14 |
1685-1853 |
Sentence |
denotes |
Mutations in the coding region of the HNF-6 gene are not associated with Type II diabetes or with changes in insulin responses to glucose among the Caucasians examined. |