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- Lindgren, CeciliaLund University,Lunds universitet,Institutionen för kliniska vetenskaper, Malmö,Medicinska fakulteten,Department of Clinical Sciences, Malmö,Faculty of Medicine (author)
Contribution of known and unknown susceptibility genes to early-onset diabetes in scandinavia: evidence for heterogeneity.
- Article/chapterEnglish2002
Publisher, publication year, extent ...
- American Diabetes Association,2002
Numbers
- LIBRIS-ID:oai:lup.lub.lu.se:4b9926fd-05d3-4adc-96c8-12e32af3cda2
- https://lup.lub.lu.se/record/115394URI
- https://doi.org/10.2337/diabetes.51.5.1609DOI
Supplementary language notes
- Language:English
- Summary in:English
Part of subdatabase
- SwePubSwePub
Classification
Notes
- In an attempt to identify novel susceptibility genes predisposing to early-onset diabetes (EOD), we performed a genome-wide scan using 433 markers in 222 individuals (119 with diabetes) from 29 Scandinavian families with ≥2 members with onset of diabetes ≤45 years. The highest nonparametric linkage (NPL) score, 2.7 (P < 0.01), was observed on chromosome 1p (D1S473/D1S438). Six other regions on chromosomes 3p, 7q, 11q, 18q, 20q, and 21q showed a nominal P value <0.05. Of the EOD subjects in these 29 families, 20% were GAD antibody positive and 68% displayed type 1 diabetes HLA risk alleles (DQB*02 or 0302). Mutations in maturity-onset diabetes of the young (MODY) 1–5 genes and the A3243G mitochondrial DNA mutation were detected by single-strand conformation polymorphism and direct sequencing. To increase homogeneity, we analyzed a subsample of five families with autosomal dominant inheritance of EOD (greater than or equal to two members with age at diagnosis ≤35 years). The highest NPL scores were found on chromosome 1p (D1S438–D1S1665; NPL 3.0; P < 0.01) and 16q (D16S419; NPL 2.9; P < 0.01). After exclusion of three families with MODY1, MODY3, and mitochondrial mutations, the highest NPL scores were observed on chromosomes 1p (D1S438; NPL 2.6; P < 0.01), 3p (D3S1620; NPL 2.2; P < 0.03), 5q (D5S1465; NPL 2.1; P < 0.03), 7q (D7S820; NPL 2.0; P < 0.03), 18q (D18S535; NPL 1.9; P < 0.04), 20q (D20S195; NPL 2.5; P < 0.02), and 21q (D21S1446; NPL 2.2; P < 0.03). We conclude that considerable heterogeneity exists in Scandinavian subjects with EOD; 24% had MODY or maternally inherited diabetes and deafness, and ∼60% were GAD antibody positive or had type 1 diabetes-associated HLA genotypes. Our data also point at putative chromosomal regions, which could harbor novel genes that contribute to EOD.
Subject headings and genre
- MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Endokrinologi och diabetes hsv//swe
- MEDICAL AND HEALTH SCIENCES Clinical Medicine Endocrinology and Diabetes hsv//eng
- Human
- Genome
- Genetic Screening
- Genetic Predisposition to Disease
- Genetic Markers
- Genetic Heterogeneity
- Female
- Insulin-Dependent: genetics
- Adult
- Diabetes Mellitus
- Biological Markers
- Autoantibodies: blood
- Aged
- Age of Onset
- Insulin-Dependent: immunology
- Family Health
- Genotype
- HLA-DQ Antigens: genetics
- Male
- Middle Age
- Mutation
- Pedigree
- Scandinavia
- Support
- Non-U.S. Gov't
Added entries (persons, corporate bodies, meetings, titles ...)
- Widén, Elisabeth (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)
- Li, HaiyanLund University,Lunds universitet,Institutionen för kliniska vetenskaper, Malmö,Medicinska fakulteten,Department of Clinical Sciences, Malmö,Faculty of Medicine(Swepub:lu)endo-hli (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)
- Kanninen, Timo (author)
- Melander, OlleLund University,Lunds universitet,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Cardiovascular Research - Hypertension,Lund University Research Groups(Swepub:lu)endo-ome (author)
- Weng, Jianping (author)
- Lehto, Markku (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)
- Institutionen för kliniska vetenskaper, MalmöMedicinska fakulteten (creator_code:org_t)
Related titles
- In:Diabetes: American Diabetes Association51:5, s. 1609-16171939-327X0012-1797
Internet link
- http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11978663&dopt=AbstractFULLTEXT
- http://dx.doi.org/10.2337/diabetes.51.5.1609FULLTEXT
- http://diabetes.diabetesjournals.org/content/51/5/1609.full.pdf
- https://lup.lub.lu.se/record/115394
- https://doi.org/10.2337/diabetes.51.5.1609
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