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  • Frayling, Timothy M. (author)

A Genome-Wide Scan in Families With Maturity-Onset Diabetes of the Young: Evidence for Further Genetic Heterogeneity.

  • Article/chapterEnglish2003

Publisher, publication year, extent ...

  • American Diabetes Association,2003

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:8245a967-003d-4ed6-9576-8a4e996543b2
  • https://lup.lub.lu.se/record/112144URI
  • https://doi.org/10.2337/diabetes.52.3.872DOI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • Maturity-onset diabetes of the young (MODY) is a heterogeneous single gene disorder characterized by non–insulin-dependent diabetes, an early onset and autosomal dominant inheritance. Mutations in six genes have been shown to cause MODY. Approximately 15–20% of families fitting MODY criteria do not have mutations in any of the known genes. These families provide a rich resource for the identification of new MODY genes. This will potentially enable further dissection of clinical heterogeneity and bring new insights into mechanisms of β-cell dysfunction. To facilitate the identification of novel MODY loci, we combined the results from three genome-wide scans on a total of 23 families fitting MODY criteria. We used both a strict parametric model of inheritance with heterogeneity and a model-free analysis. We did not identify any single novel locus but provided putative evidence for linkage to chromosomes 6 (nonparametric linkage [NPL]score 2.12 at 71 cM) and 10 (NPL score 1.88 at 169–175 cM), and to chromosomes 3 (heterogeneity LOD [HLOD] score 1.27 at 124 cM) and 5 (HLOD score 1.22 at 175 cM) in 14 more strictly defined families. Our results provide evidence for further heterogeneity in MODY.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Lindgren, CeciliaLund University,Lunds universitet,Institutionen för kliniska vetenskaper, Malmö,Medicinska fakulteten,Department of Clinical Sciences, Malmö,Faculty of Medicine(Swepub:lu)endo-cli (author)
  • Chevre, Jean Claude (author)
  • Menzel, Stephan (author)
  • Wishart, Marie (author)
  • Benmezroua, Yamina (author)
  • Brown, Alison (author)
  • Evans, Julie C. (author)
  • Rao, Pamidghantam Subba (author)
  • Dina, Christian (author)
  • Lecoeur, Cécile (author)
  • Kanninen, Timo (author)
  • Almgren, PeterLund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups(Swepub:lu)endo-pal (author)
  • Bulman, Michael P. (author)
  • Wang, Youxiang (author)
  • Mills, James (author)
  • Wright-Pascoe, Rosemarie (author)
  • Mahtani, Melanie M. (author)
  • Prisco, Francesco (author)
  • Costa, Angels (author)
  • Cognet, Ignacio (author)
  • Hansen, Torben (author)
  • Pedersen, Oluf (author)
  • Ellard, Sian (author)
  • Tuomi, TiinamaijaLund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups(Swepub:lu)ti8736tu (author)
  • Groop, LeifLund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups(Swepub:lu)endo-lgr (author)
  • Froguel, Philippe (author)
  • Hattersley, Andrew T. (author)
  • Vaxillaire, Martine (author)
  • Institutionen för kliniska vetenskaper, MalmöMedicinska fakulteten (creator_code:org_t)

Related titles

  • In:Diabetes: American Diabetes Association52:3, s. 872-8811939-327X0012-1797

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