{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T00:37:40Z","timestamp":1773189460741,"version":"3.50.1"},"reference-count":19,"publisher":"American Diabetes Association","issue":"12","content-domain":{"domain":["diabetesjournals.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2002,12,1]]},"abstract":"<jats:p>OBJECTIVE\u2014To investigate the prevalence of the unique HNF-1\u03b1 G319S mutation in a population of aboriginal youth with type 2 diabetes and to describe the relationship between clinical and historical characteristics and the presence or absence of the HNF-1\u03b1 G319S mutation.<\/jats:p>\n               <jats:p>RESEARCH DESIGN AND METHODS\u2014Participating youth were genotyped for the G319S mutation of the HNF-1\u03b1 gene. Clinical, laboratory, and historical data were collected via chart review (blinded to genotype results). Comparison data were derived from another study involving young nondiabetic pregnant aboriginal women.<\/jats:p>\n               <jats:p>RESULTS\u2014A total of 51 youth seen sequentially in a type 2 diabetes clinic participated in this study. Of these, 21 (41.2%) had at least one copy of the mutant allele. The allele frequency in the study population was 0.29 (95% CI 0.20\u20130.38), which was significantly different from the allele frequency of 0.13 in the comparison population (\u03c72 = 6.78, P = 0.009). The frequency of the homozygous mutation (S319\/S319) was 0.18. Mean BMI was significantly lower (P = 0.002), mean HbA1c was significantly higher (P = 0.02), and acanthosis nigricans was significantly less frequent (P = 0.004) in those with the mutation compared with the wild type. Mean insulin levels were lower and insulin sensitivity (assessed by homeostasis model assessment [HOMA]) was greater in the homozygote group compared with the wild-type group (P = 0.002 and P = 0.0007, respectively). A dose-dependent gradient was observed for these characteristics.<\/jats:p>\n               <jats:p>CONCLUSIONS\u2014These data support the association between the HNF-1\u03b1 G319S mutation and early-onset type 2 diabetes in this population. Those with the mutation lacked clinical characteristics of insulin resistance (e.g., obesity and acanthosis nigricans) and had lower insulin levels, suggesting that an insulin-secretory and\/or -production defect plays an important role in the development of diabetes in this group. Further investigation of the pathophysiology of the S319 homo- and heterozygote is needed because it may impact treatment and\/or prevention of this disease.<\/jats:p>","DOI":"10.2337\/diacare.25.12.2202","type":"journal-article","created":{"date-parts":[[2007,3,5]],"date-time":"2007-03-05T22:51:27Z","timestamp":1173135087000},"page":"2202-2206","update-policy":"https:\/\/doi.org\/10.2337\/ada-journal-policies","source":"Crossref","is-referenced-by-count":53,"title":["The Prevalence of the <i>HNF-1\u03b1<\/i> G319S Mutation in Canadian Aboriginal Youth With Type 2 Diabetes"],"prefix":"10.2337","volume":"25","author":[{"given":"Elizabeth A.C.","family":"Sellers","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Triggs-Raine","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheryl","family":"Rockman-Greenberg","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heather J.","family":"Dean","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1167","reference":[{"key":"2022031215020031800_R1","doi-asserted-by":"crossref","unstructured":"Libman I, Arslanian SA: Type 2 diabetes mellitus: no longer just adults. 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