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CRYAB-650 C>G (rs22...
CRYAB-650 C>G (rs2234702) affects susceptibility to type 1 diabetes and IAA-positivity in Swedish population
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Sun, Chengjun (author)
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- Sedimbi, Saikiran K (author)
- Karolinska Institutet
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Ashok, Ayyappa K (author)
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- Sanjeevi, Carani B (author)
- Karolinska Institutet
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- Lernmark, Åke (author)
- Lund University,Lunds universitet,Celiaki och diabetes,Forskargrupper vid Lunds universitet,Celiac Disease and Diabetes Unit,Lund University Research Groups,University of Washington
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- Landin-Olsson, Mona (author)
- Lund University,Lunds universitet,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Department of Clinical Sciences, Lund,Faculty of Medicine
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Arnqvist, Hans (author)
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Björck, Elisabeth (author)
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- Eriksson, Jan (author)
- Umeå universitet,Medicin
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- Nyström, Lennarth (author)
- Umeå universitet,Epidemiologi och global hälsa
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Ohlson, Lars Olof (author)
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- Scherstén, Bengt (author)
- Lund University,Lunds universitet,Allmänmedicin och samhällsmedicin,Forskargrupper vid Lunds universitet,Family Medicine and Community Medicine,Lund University Research Groups
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Östman, Jan (author)
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Aili, M (author)
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Bååth, LE (author)
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Carlsson, E (author)
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Edenwall, H (author)
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Forsander, G (author)
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Granström, BW (author)
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Gustavsson, I (author)
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Hanås, R (author)
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Hellenberg, L (author)
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Hellgren, H (author)
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- Holmberg, E (author)
- Umeå universitet,Pediatrik
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Hörnell, H (author)
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- Ivarsson, Sten-A (author)
- Lund University,Lunds universitet,Celiaki och diabetes,Forskargrupper vid Lunds universitet,Pediatrisk endokrinologi,Celiac Disease and Diabetes Unit,Lund University Research Groups,Paediatric Endocrinology
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Johansson, C (author)
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Jonsell, G (author)
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Kockum, K (author)
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Lindblad, B (author)
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Lindh, A (author)
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Ludvigsson, J (author)
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Myrdal, U (author)
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Neiderud, J (author)
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Segnestam, K (author)
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- Sjöblad, S. (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
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Skogsberg, L (author)
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Strömberg, L (author)
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Ståhle, U (author)
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Thalme, B (author)
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Tullus, K (author)
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Tuvemo, T (author)
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Wallensteen, M (author)
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Westphal, O (author)
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- Dahlquist, Gisela (author)
- Umeå universitet,Pediatrik
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Åman, J (author)
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(creator_code:org_t)
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- Elsevier, 2012
- 2012
- English.
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In: Human Immunology. - : Elsevier. - 0198-8859 .- 1879-1166. ; 73:7, s. 759-766
- Related links:
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http://dx.doi.org/10...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Subject headings
Close
- BACKGROUND: Single nucleotide polymorphisms (SNPs) in the promoter region of CRYAB gene have been associated with in multiple sclerosis. CRYAB gene, which encodes alpha B-crystallin (a member of small heat shock protein), was reported as a potential autoimmune target. In this study we investigated whether SNPs in the promoter region of CRYAB gene were also important in the etiology of Type 1 diabetes (T1D).METHODS: Genotyping of SNPs in the promoter region of CRYAB gene was performed in a Swedish cohort containing 444 T1D patients and 350 healthy controls. Three SNPs were included in this study: CRYAB-652 A>G (rs762550), -650 C>G (rs2234702) and -249 C > G (rs14133). Two SNPs (CRYAB-652 and -650) were not included in previous genome wide association studies.RESULTS: CRYAB-650 (rs2234702)*C allele was significantly more frequent in patients than in controls (OR = 1.48, Pc = 0.03). CRYAB-650*C allele was associated with IAA positivity (OR = 8.17, Pc < 0.0001) and IA-2A positivity (OR = 2.14, Pc = 0.005) in T1D patients. This association with IAA was amplified by high-risk HLA carrier state (OR = 10.6, P < 0.0001). No association was found between CRYAB-650 and other autoantibody positivity (GADA and ICA). CRYAB haplotypes were also associated with IAA and IA-2A positivity (highest OR = 2.07 and 2.11, respectively), these associations remain in high HLA-risk T1D patients.CONCLUSIONS: CRYAB-650 was associated with T1D in the Swedish cohort we studied. CRYAB-650*C allele might confers susceptibility to the development of T1D. CRYAB-650 was also associated with the development of IAA-positivity in T1D patients, especially in those carrying T1D high-risk HLA haplotypes.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
Keyword
- Autoimmunity
- CRYAB
- Haplotype
- Type 1 diabetes
- Swedish
- Adolescent
- Adult
- Autoantibodies/blood
- Diabetes Mellitus, Type 1/diagnosis
- Female
- Gene Frequency
- Genetic Association Studies
- Genotype
- Humans
- Insulin/immunology
- Male
- Polymorphism, Single Nucleotide
- Promoter Regions, Genetic/genetics
- Sweden
- Young Adult
- alpha-Crystallin B Chain/genetics
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
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Sun, Chengjun
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Sedimbi, Saikira ...
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Ashok, Ayyappa K
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Sanjeevi, Carani ...
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Lernmark, Åke
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Landin-Olsson, M ...
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show more...
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Arnqvist, Hans
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Björck, Elisabet ...
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Eriksson, Jan
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Nyström, Lennart ...
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Ohlson, Lars Olo ...
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Scherstén, Bengt
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Östman, Jan
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Aili, M
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Bååth, LE
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Carlsson, E
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Edenwall, H
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Forsander, G
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Granström, BW
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Gustavsson, I
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Hanås, R
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Hellenberg, L
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Hellgren, H
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Holmberg, E
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Hörnell, H
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Ivarsson, Sten-A
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Johansson, C
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Jonsell, G
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Kockum, K
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Lindblad, B
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Lindh, A
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Ludvigsson, J
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Myrdal, U
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Neiderud, J
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Segnestam, K
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Sjöblad, S.
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Skogsberg, L
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Strömberg, L
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Ståhle, U
-
Thalme, B
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Tullus, K
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Tuvemo, T
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Wallensteen, M
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Westphal, O
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Dahlquist, Gisel ...
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Åman, J
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Endocrinology an ...
- Articles in the publication
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Human Immunology
- By the university
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Umeå University
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Karolinska Institutet
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Lund University