schliessen

Filtern

 

Bibliotheken

ABCC8 R1420H Loss-of-Function Variant in a Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of Type 2 Diabetes

Missense variants in KCNJ11 and ABCC8 , which encode the KIR6.2 and SUR1 subunits of the β-cell K ATP channel, have previously been implicated in type 2 diabetes, neonatal diabetes, and hyperinsulinemic hypoglycemia of infancy (HHI). To determine whether variation in these genes affects risk for typ... Full description

Journal Title: Diabetes 2015, Vol.64(12), p.4322-4332
Main Author: Baier, Leslie J
Other Authors: Muller, Yunhua Li , Remedi, Maria Sara , Traurig, Michael , Piaggi, Paolo , Wiessner, Gregory , Huang, Ke , Stacy, Alyssa , Kobes, Sayuko , Krakoff, Jonathan , Bennett, Peter H , Nelson, Robert G , Knowler, William C , Hanson, Robert L , Nichols, Colin G , Bogardus, Clifton
Format: Electronic Article Electronic Article
Language:
Subjects:
ID: ISSN: 0012-1797 ; E-ISSN: 1939-327X ; DOI: 10.2337/db15-0459 ; PMCID: 4657583 ; PMID: 26246406
Link: db150459.pdf
Zum Text:
SendSend as email Add to Book BagAdd to Book Bag
Staff View
recordid: pubmed_central4657583
title: ABCC8 R1420H Loss-of-Function Variant in a Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of Type 2 Diabetes
format: Article
creator:
  • Baier, Leslie J
  • Muller, Yunhua Li
  • Remedi, Maria Sara
  • Traurig, Michael
  • Piaggi, Paolo
  • Wiessner, Gregory
  • Huang, Ke
  • Stacy, Alyssa
  • Kobes, Sayuko
  • Krakoff, Jonathan
  • Bennett, Peter H
  • Nelson, Robert G
  • Knowler, William C
  • Hanson, Robert L
  • Nichols, Colin G
  • Bogardus, Clifton
subjects:
  • Genetics/Genomes/Proteomics/Metabolomics
ispartof: Diabetes, 2015, Vol.64(12), p.4322-4332
description: Missense variants in KCNJ11 and ABCC8 , which encode the KIR6.2 and SUR1 subunits of the β-cell K ATP channel, have previously been implicated in type 2 diabetes, neonatal diabetes, and hyperinsulinemic hypoglycemia of infancy (HHI). To determine whether variation in these genes affects risk for type 2 diabetes or increased birth weight as a consequence of fetal hyperinsulinemia in Pima Indians, missense and common noncoding variants were analyzed in individuals living in the Gila River Indian Community. A R1420H variant in SUR1 ( ABCC8 ) was identified in 3.3% of the population ( N = 7,710). R1420H carriers had higher mean birth weights and a twofold increased risk for type 2 diabetes with a 7-year earlier onset age despite being leaner than noncarriers. One individual homozygous for R1420H was identified; retrospective review of his medical records was consistent with HHI and a diagnosis of diabetes at age 3.5 years. In vitro studies showed that the R1420H substitution decreases K ATP channel activity. Identification of this loss-of-function variant in ABCC8 with a carrier frequency of 3.3% affects clinical care as homozygous inheritance and potential HHI will occur in 1/3,600 births in this American Indian population.
language:
source:
identifier: ISSN: 0012-1797 ; E-ISSN: 1939-327X ; DOI: 10.2337/db15-0459 ; PMCID: 4657583 ; PMID: 26246406
fulltext: fulltext
issn:
  • 0012-1797
  • 00121797
  • 1939-327X
  • 1939327X
url: Link


@attributes
ID225319391
RANK0.07
NO1
SEARCH_ENGINEprimo_central_multiple_fe
SEARCH_ENGINE_TYPEPrimo Central Search Engine
LOCALfalse
PrimoNMBib
record
control
sourcerecordid4657583
sourceidpubmed_central
recordidTN_pubmed_central4657583
sourceformatXML
sourcesystemPC
pqid1736681426
galeid448022782
display
typearticle
titleABCC8 R1420H Loss-of-Function Variant in a Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of Type 2 Diabetes
creatorBaier, Leslie J ; Muller, Yunhua Li ; Remedi, Maria Sara ; Traurig, Michael ; Piaggi, Paolo ; Wiessner, Gregory ; Huang, Ke ; Stacy, Alyssa ; Kobes, Sayuko ; Krakoff, Jonathan ; Bennett, Peter H ; Nelson, Robert G ; Knowler, William C ; Hanson, Robert L ; Nichols, Colin G ; Bogardus, Clifton
ispartofDiabetes, 2015, Vol.64(12), p.4322-4332
identifier
subjectGenetics/Genomes/Proteomics/Metabolomics
descriptionMissense variants in KCNJ11 and ABCC8 , which encode the KIR6.2 and SUR1 subunits of the β-cell K ATP channel, have previously been implicated in type 2 diabetes, neonatal diabetes, and hyperinsulinemic hypoglycemia of infancy (HHI). To determine whether variation in these genes affects risk for type 2 diabetes or increased birth weight as a consequence of fetal hyperinsulinemia in Pima Indians, missense and common noncoding variants were analyzed in individuals living in the Gila River Indian Community. A R1420H variant in SUR1 ( ABCC8 ) was identified in 3.3% of the population ( N = 7,710). R1420H carriers had higher mean birth weights and a twofold increased risk for type 2 diabetes with a 7-year earlier onset age despite being leaner than noncarriers. One individual homozygous for R1420H was identified; retrospective review of his medical records was consistent with HHI and a diagnosis of diabetes at age 3.5 years. In vitro studies showed that the R1420H substitution decreases K ATP channel activity. Identification of this loss-of-function variant in ABCC8 with a carrier frequency of 3.3% affects clinical care as homozygous inheritance and potential HHI will occur in 1/3,600 births in this American Indian population.
source
version5
lds50peer_reviewed
links
openurl$$Topenurl_article
backlink$$Udb150459.pdf$$EView_source_record
openurlfulltext$$Topenurlfull_article
search
creatorcontrib
0Baier, Leslie J
1Muller, Yunhua Li
2Remedi, Maria Sara
3Traurig, Michael
4Piaggi, Paolo
5Wiessner, Gregory
6Huang, Ke
7Stacy, Alyssa
8Kobes, Sayuko
9Krakoff, Jonathan
10Bennett, Peter H
11Nelson, Robert G
12Knowler, William C
13Hanson, Robert L
14Nichols, Colin G
15Bogardus, Clifton
titleABCC8 R1420H Loss-of-Function Variant in a Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of Type 2 Diabetes
descriptionMissense variants in KCNJ11 and ABCC8 , which encode the KIR6.2 and SUR1 subunits of the β-cell K ATP channel, have previously been implicated in type 2 diabetes, neonatal diabetes, and hyperinsulinemic hypoglycemia of infancy (HHI). To determine whether variation in these genes affects risk for type 2 diabetes or increased birth weight as a consequence of fetal hyperinsulinemia in Pima Indians, missense and common noncoding variants were analyzed in individuals living in the Gila River Indian Community. A R1420H variant in SUR1 ( ABCC8 ) was identified in 3.3% of the population ( N = 7,710). R1420H carriers had higher mean birth weights and a twofold increased risk for type 2 diabetes with a 7-year earlier onset age despite being leaner than noncarriers. One individual homozygous for R1420H was identified; retrospective review of his medical records was consistent with HHI and a diagnosis of diabetes at age 3.5 years. In vitro studies showed that the R1420H substitution decreases K ATP channel activity. Identification of this loss-of-function variant in ABCC8 with a carrier frequency of 3.3% affects clinical care as homozygous inheritance and potential HHI will occur in 1/3,600 births in this American Indian population.
subjectGenetics/Genomes/Proteomics/Metabolomics
general
026246406
14657583
210.2337/db15-0459
3PMC (PubMed Central)
sourceidpubmed_central
recordidpubmed_central4657583
issn
00012-1797
100121797
21939-327X
31939327X
rsrctypearticle
creationdate2015
addtitleDiabetes
searchscopepubmed_central
scopepubmed_central
lsr30VSR-Enriched:[galeid, pqid, pages]
sort
titleABCC8 R1420H Loss-of-Function Variant in a Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of Type 2 Diabetes
authorBaier, Leslie J ; Muller, Yunhua Li ; Remedi, Maria Sara ; Traurig, Michael ; Piaggi, Paolo ; Wiessner, Gregory ; Huang, Ke ; Stacy, Alyssa ; Kobes, Sayuko ; Krakoff, Jonathan ; Bennett, Peter H ; Nelson, Robert G ; Knowler, William C ; Hanson, Robert L ; Nichols, Colin G ; Bogardus, Clifton
creationdate20151200
facets
frbrgroupid8913465403629081081
frbrtype5
newrecords20161206
creationdate2015
topicGenetics/Genomes/Proteomics/Metabolomics
collectionPMC (PubMed Central)
prefilterarticles
rsrctypearticles
creatorcontrib
0Baier, Leslie J.
1Muller, Yunhua Li
2Remedi, Maria Sara
3Traurig, Michael
4Piaggi, Paolo
5Wiessner, Gregory
6Huang, Ke
7Stacy, Alyssa
8Kobes, Sayuko
9Krakoff, Jonathan
10Bennett, Peter H.
11Nelson, Robert G.
12Knowler, William C.
13Hanson, Robert L.
14Nichols, Colin G.
15Bogardus, Clifton
jtitleDiabetes
toplevelpeer_reviewed
delivery
delcategoryRemote Search Resource
fulltextfulltext
addata
aulast
0Baier
1Muller
2Remedi
3Traurig
4Piaggi
5Wiessner
6Huang
7Stacy
8Kobes
9Krakoff
10Bennett
11Nelson
12Knowler
13Hanson
14Nichols
15Bogardus
aufirst
0Leslie J.
1Yunhua Li
2Maria Sara
3Michael
4Paolo
5Gregory
6Ke
7Alyssa
8Sayuko
9Jonathan
10Peter H.
11Robert G.
12William C.
13Robert L.
14Colin G.
15Clifton
au
0Baier, Leslie J.
1Muller, Yunhua Li
2Remedi, Maria Sara
3Traurig, Michael
4Piaggi, Paolo
5Wiessner, Gregory
6Huang, Ke
7Stacy, Alyssa
8Kobes, Sayuko
9Krakoff, Jonathan
10Bennett, Peter H.
11Nelson, Robert G.
12Knowler, William C.
13Hanson, Robert L.
14Nichols, Colin G.
15Bogardus, Clifton
atitleABCC8 R1420H Loss-of-Function Variant in a Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of Type 2 Diabetes
jtitleDiabetes
risdate20151200
volume64
issue12
spage4322
epage4332
issn0012-1797
eissn1939-327X
formatjournal
genrearticle
ristypeJOUR
abstractMissense variants in KCNJ11 and ABCC8 , which encode the KIR6.2 and SUR1 subunits of the β-cell K ATP channel, have previously been implicated in type 2 diabetes, neonatal diabetes, and hyperinsulinemic hypoglycemia of infancy (HHI). To determine whether variation in these genes affects risk for type 2 diabetes or increased birth weight as a consequence of fetal hyperinsulinemia in Pima Indians, missense and common noncoding variants were analyzed in individuals living in the Gila River Indian Community. A R1420H variant in SUR1 ( ABCC8 ) was identified in 3.3% of the population ( N = 7,710). R1420H carriers had higher mean birth weights and a twofold increased risk for type 2 diabetes with a 7-year earlier onset age despite being leaner than noncarriers. One individual homozygous for R1420H was identified; retrospective review of his medical records was consistent with HHI and a diagnosis of diabetes at age 3.5 years. In vitro studies showed that the R1420H substitution decreases K ATP channel activity. Identification of this loss-of-function variant in ABCC8 with a carrier frequency of 3.3% affects clinical care as homozygous inheritance and potential HHI will occur in 1/3,600 births in this American Indian population.
pubAmerican Diabetes Association
doi10.2337/db15-0459
pmid26246406
pages4322-43232
oafree_for_read
date2015-12-00