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HTR1A a Novel Type 1 Diabetes Susceptibility Gene on Chromosome 5p13-q13

Asad, Samina (author)
Karolinska Institutet,Karolinska Institute, Sweden
Nikamo, Pernilla (author)
Karolinska Institutet,Karolinska Institute, Sweden
Gyllenberg, Alexandra (author)
Karolinska Institutet,Karolinska Institute, Sweden
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Bennet, Hedvig (author)
Lund University,Lunds universitet,Celiaki och diabetes,Forskargrupper vid Lunds universitet,Celiac Disease and Diabetes Unit,Lund University Research Groups,Lund University, Sweden Lund University, Sweden
Hansson, Ola (author)
Lund University, Sweden
Wierup, Nils (author)
Lund University, Sweden
Carlsson, Annelie (author)
Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,University of Lund Hospital, Sweden
Forsander, Gun (author)
Queen Silvia Childrens Hospital, Sweden
Ivarsson, Sten (author)
Lund University,Lunds universitet,Pediatrisk endokrinologi,Forskargrupper vid Lunds universitet,Paediatric Endocrinology,Lund University Research Groups,Lund University, Sweden
Larsson, Helena (author)
Lund University,Lunds universitet,Pediatrisk endokrinologi,Forskargrupper vid Lunds universitet,Paediatric Endocrinology,Lund University Research Groups,Lund University, Sweden
Lernmark, Åke (author)
Lund University,Lunds universitet,Celiaki och diabetes,Forskargrupper vid Lunds universitet,Celiac Disease and Diabetes Unit,Lund University Research Groups,Lund University, Sweden
Lindblad, Bengt (author)
Queen Silvia Childrens Hospital, Sweden
Ludvigsson, Johnny (author)
Östergötlands Läns Landsting,Linköpings universitet,Pediatrik,Hälsouniversitetet,Barn- och ungdomskliniken i Linköping
Marcus, Claude (author)
Karolinska Institutet,Karolinska Institute, Sweden
Ronningen, Kjersti S. (author)
University of Oslo, Norway
Nerup, Jan (author)
Steno Diabet Centre, Denmark
Pociot, Flemming (author)
Lund University, Sweden University Hospital Glostrup, Denmark
Luthman, Holger (author)
Lund University,Lunds universitet,Genetik,Forskargrupper vid Lunds universitet,Genetics,Lund University Research Groups,Lund University, Sweden Lund University, Sweden
Fex, Malin (author)
Lund University,Lunds universitet,Celiaki och diabetes,Forskargrupper vid Lunds universitet,Celiac Disease and Diabetes Unit,Lund University Research Groups,Lund University, Sweden Lund University, Sweden
Kockum, Ingrid (author)
Karolinska Institutet,Karolinska Institute, Sweden
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 (creator_code:org_t)
2012-05-01
2012
English.
In: PLOS ONE. - : Public Library of Science. - 1932-6203. ; 7:5
  • Journal article (peer-reviewed)
Abstract Subject headings
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  • Background: We have previously performed a genome-wide linkage study in Scandinavian Type 1 diabetes (T1D) families. In the Swedish families, we detected suggestive linkage (LOD less than= 2.2) to the chromosome 5p13-q13 region. The aim of our study was to investigate the linked region in search for possible T1D susceptibility genes. Methodology/Principal Findings: Microsatellites were genotyped in the Scandinavian families to fine-map the previously linked region. Further, SNPs were genotyped in Swedish and Danish families as well as Swedish sporadic cases. In the Swedish families we detected genome-wide significant linkage to the 5-hydroxytryptamine receptor 1A (HTR1A) gene (LOD 3.98, pless than9.8x10(-6)). Markers tagging two separate genes; the ring finger protein 180 (RNF180) and HTR1A showed association to T1D in the Swedish and Danish families (pless than0.002, pless than0.001 respectively). The association was not confirmed in sporadic cases. Conditional analysis indicates that the primary association was to HTR1A. Quantitative PCR show that transcripts of both HTR1A and RNF180 are present in human islets of Langerhans. Moreover, immunohistochemical analysis confirmed the presence of the 5-HTR1A protein in isolated human islets of Langerhans as well as in sections of human pancreas. Conclusions: We have identified and confirmed the association of both HTR1A and RFN180, two genes in high linkage disequilibrium (LD) to T1D in two separate family materials. As both HTR1A and RFN180 were expressed at the mRNA level and HTR1A as protein in human islets of Langerhans, we suggest that HTR1A may affect T1D susceptibility by modulating the initial autoimmune attack or either islet regeneration, insulin release, or both.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Pediatrik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Pediatrics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)

Keyword

MEDICINE
MEDICIN

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