SwePub
Sök i LIBRIS databas

  Utökad sökning

WFRF:(Tuomi TiinaMaija)
 

Sökning: WFRF:(Tuomi TiinaMaija) > (2000-2004) > Contribution of kno...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00005623naa a2200709 4500
001oai:lup.lub.lu.se:4b9926fd-05d3-4adc-96c8-12e32af3cda2
003SwePub
008160401s2002 | |||||||||||000 ||eng|
0247 a https://lup.lub.lu.se/record/1153942 URI
0247 a https://doi.org/10.2337/diabetes.51.5.16092 DOI
040 a (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Lindgren, Ceciliau Lund University,Lunds universitet,Institutionen för kliniska vetenskaper, Malmö,Medicinska fakulteten,Department of Clinical Sciences, Malmö,Faculty of Medicine4 aut0 (Swepub:lu)endo-cli
2451 0a Contribution of known and unknown susceptibility genes to early-onset diabetes in scandinavia: evidence for heterogeneity.
264 1b American Diabetes Association,c 2002
520 a 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.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Endokrinologi och diabetes0 (SwePub)302052 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Endocrinology and Diabetes0 (SwePub)302052 hsv//eng
653 a Human
653 a Genome
653 a Genetic Screening
653 a Genetic Predisposition to Disease
653 a Genetic Markers
653 a Genetic Heterogeneity
653 a Female
653 a Insulin-Dependent: genetics
653 a Adult
653 a Diabetes Mellitus
653 a Biological Markers
653 a Autoantibodies: blood
653 a Aged
653 a Age of Onset
653 a Insulin-Dependent: immunology
653 a Family Health
653 a Genotype
653 a HLA-DQ Antigens: genetics
653 a Male
653 a Middle Age
653 a Mutation
653 a Pedigree
653 a Scandinavia
653 a Support
653 a Non-U.S. Gov't
7001 a Widén, Elisabeth4 aut
7001 a Tuomi, Tiinamaijau Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups4 aut0 (Swepub:lu)ti8736tu
7001 a Li, Haiyanu Lund University,Lunds universitet,Institutionen för kliniska vetenskaper, Malmö,Medicinska fakulteten,Department of Clinical Sciences, Malmö,Faculty of Medicine4 aut0 (Swepub:lu)endo-hli
7001 a Almgren, Peteru Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups4 aut0 (Swepub:lu)endo-pal
7001 a Kanninen, Timo4 aut
7001 a Melander, Olleu Lund University,Lunds universitet,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Cardiovascular Research - Hypertension,Lund University Research Groups4 aut0 (Swepub:lu)endo-ome
7001 a Weng, Jianping4 aut
7001 a Lehto, Markku4 aut
7001 a Groop, Leifu Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups4 aut0 (Swepub:lu)endo-lgr
7102 a Institutionen för kliniska vetenskaper, Malmöb Medicinska fakulteten4 org
7730 t Diabetesd : American Diabetes Associationg 51:5, s. 1609-1617q 51:5<1609-1617x 1939-327Xx 0012-1797
8564 u http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=11978663&dopt=Abstractx freey FULLTEXT
8564 u http://dx.doi.org/10.2337/diabetes.51.5.1609x freey FULLTEXT
8564 u http://diabetes.diabetesjournals.org/content/51/5/1609.full.pdf
8564 8u https://lup.lub.lu.se/record/115394
8564 8u https://doi.org/10.2337/diabetes.51.5.1609

Hitta via bibliotek

  • Diabetes (Sök värdpublikationen i LIBRIS)

Till lärosätets databas

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy