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Trisomy 21 is a Cause of Permanent Neonatal Diabetes that is Autoimmune but not HLA Associated

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Trisomy 21 is a Cause of Permanent Neonatal Diabetes that is Autoimmune but not HLA Associated. / Johnson, Matthew B.; De Franco, Elisa; Greeley, Siri Atma W.; Letourneau, Lisa R.; Gillespie, Kathleen M.; Wakeling, Matthew N.; Ellard, Sian; Flanagan, Sarah E.; Patel, Kashyap A.; Hattersley, Andrew T.

In: Diabetes, Vol. 68, No. 7, db190045, 01.07.2019, p. 1528-1535.

Research output: Contribution to journalArticle

Harvard

Johnson, MB, De Franco, E, Greeley, SAW, Letourneau, LR, Gillespie, KM, Wakeling, MN, Ellard, S, Flanagan, SE, Patel, KA & Hattersley, AT 2019, 'Trisomy 21 is a Cause of Permanent Neonatal Diabetes that is Autoimmune but not HLA Associated', Diabetes, vol. 68, no. 7, db190045, pp. 1528-1535. https://doi.org/10.2337/db19-0045

APA

Johnson, M. B., De Franco, E., Greeley, S. A. W., Letourneau, L. R., Gillespie, K. M., Wakeling, M. N., ... Hattersley, A. T. (2019). Trisomy 21 is a Cause of Permanent Neonatal Diabetes that is Autoimmune but not HLA Associated. Diabetes, 68(7), 1528-1535. [db190045]. https://doi.org/10.2337/db19-0045

Vancouver

Johnson MB, De Franco E, Greeley SAW, Letourneau LR, Gillespie KM, Wakeling MN et al. Trisomy 21 is a Cause of Permanent Neonatal Diabetes that is Autoimmune but not HLA Associated. Diabetes. 2019 Jul 1;68(7):1528-1535. db190045. https://doi.org/10.2337/db19-0045

Author

Johnson, Matthew B. ; De Franco, Elisa ; Greeley, Siri Atma W. ; Letourneau, Lisa R. ; Gillespie, Kathleen M. ; Wakeling, Matthew N. ; Ellard, Sian ; Flanagan, Sarah E. ; Patel, Kashyap A. ; Hattersley, Andrew T. / Trisomy 21 is a Cause of Permanent Neonatal Diabetes that is Autoimmune but not HLA Associated. In: Diabetes. 2019 ; Vol. 68, No. 7. pp. 1528-1535.

Bibtex

@article{1b502c1278c14b028061eab8882d16b2,
title = "Trisomy 21 is a Cause of Permanent Neonatal Diabetes that is Autoimmune but not HLA Associated",
abstract = "Identifying new causes of permanent neonatal diabetes (diagnosis <6 months; PNDM) provides important insights into β-cell biology. Patients with Down syndrome (DS) resulting from trisomy 21 are 4 times more likely to have childhood diabetes with an intermediate HLA association. It is not known if DS can cause PNDM. We found trisomy 21 was 7 times more likely in our PNDM cohort than in the population (13/1522 = 85/10,000 observed vs. 12.6/10,000 expected) and none of the 13 DS-PNDM cases had a mutation in the known PNDM genes which explained 82.9{\%} of non-DS PNDM. Islet autoantibodies were present in 4/9 DS-PNDM patients but DS-PNDM was not associated with polygenic susceptibility to type 1 diabetes. We conclude that trisomy 21 is a cause of autoimmune PNDM that is not HLA associated. We propose that autoimmune diabetes in DS is heterogeneous and includes coincidental type 1 diabetes that is HLA associated and diabetes caused by trisomy 21 that is not HLA associated.",
author = "Johnson, {Matthew B.} and {De Franco}, Elisa and Greeley, {Siri Atma W.} and Letourneau, {Lisa R.} and Gillespie, {Kathleen M.} and Wakeling, {Matthew N.} and Sian Ellard and Flanagan, {Sarah E.} and Patel, {Kashyap A.} and Hattersley, {Andrew T.}",
note = "{\circledC} 2019 by the American Diabetes Association.",
year = "2019",
month = "7",
day = "1",
doi = "10.2337/db19-0045",
language = "English",
volume = "68",
pages = "1528--1535",
journal = "Diabetes",
issn = "0012-1797",
publisher = "American Diabetes Association Inc.",
number = "7",

}

RIS - suitable for import to EndNote

TY - JOUR

T1 - Trisomy 21 is a Cause of Permanent Neonatal Diabetes that is Autoimmune but not HLA Associated

AU - Johnson, Matthew B.

AU - De Franco, Elisa

AU - Greeley, Siri Atma W.

AU - Letourneau, Lisa R.

AU - Gillespie, Kathleen M.

AU - Wakeling, Matthew N.

AU - Ellard, Sian

AU - Flanagan, Sarah E.

AU - Patel, Kashyap A.

AU - Hattersley, Andrew T.

N1 - © 2019 by the American Diabetes Association.

PY - 2019/7/1

Y1 - 2019/7/1

N2 - Identifying new causes of permanent neonatal diabetes (diagnosis <6 months; PNDM) provides important insights into β-cell biology. Patients with Down syndrome (DS) resulting from trisomy 21 are 4 times more likely to have childhood diabetes with an intermediate HLA association. It is not known if DS can cause PNDM. We found trisomy 21 was 7 times more likely in our PNDM cohort than in the population (13/1522 = 85/10,000 observed vs. 12.6/10,000 expected) and none of the 13 DS-PNDM cases had a mutation in the known PNDM genes which explained 82.9% of non-DS PNDM. Islet autoantibodies were present in 4/9 DS-PNDM patients but DS-PNDM was not associated with polygenic susceptibility to type 1 diabetes. We conclude that trisomy 21 is a cause of autoimmune PNDM that is not HLA associated. We propose that autoimmune diabetes in DS is heterogeneous and includes coincidental type 1 diabetes that is HLA associated and diabetes caused by trisomy 21 that is not HLA associated.

AB - Identifying new causes of permanent neonatal diabetes (diagnosis <6 months; PNDM) provides important insights into β-cell biology. Patients with Down syndrome (DS) resulting from trisomy 21 are 4 times more likely to have childhood diabetes with an intermediate HLA association. It is not known if DS can cause PNDM. We found trisomy 21 was 7 times more likely in our PNDM cohort than in the population (13/1522 = 85/10,000 observed vs. 12.6/10,000 expected) and none of the 13 DS-PNDM cases had a mutation in the known PNDM genes which explained 82.9% of non-DS PNDM. Islet autoantibodies were present in 4/9 DS-PNDM patients but DS-PNDM was not associated with polygenic susceptibility to type 1 diabetes. We conclude that trisomy 21 is a cause of autoimmune PNDM that is not HLA associated. We propose that autoimmune diabetes in DS is heterogeneous and includes coincidental type 1 diabetes that is HLA associated and diabetes caused by trisomy 21 that is not HLA associated.

UR - http://www.scopus.com/inward/record.url?scp=85068537509&partnerID=8YFLogxK

U2 - 10.2337/db19-0045

DO - 10.2337/db19-0045

M3 - Article

VL - 68

SP - 1528

EP - 1535

JO - Diabetes

JF - Diabetes

SN - 0012-1797

IS - 7

M1 - db190045

ER -