RGD Reference Report - Type 2 diabetes susceptibility genes on chromosome 1q21-24. - Rat Genome Database

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Type 2 diabetes susceptibility genes on chromosome 1q21-24.

Authors: Hasstedt, SJ  Chu, WS  Das, SK  Wang, H  Elbein, SC 
Citation: Hasstedt SJ, etal., Ann Hum Genet. 2008 Mar;72(Pt 2):163-9.
RGD ID: 2314133
Pubmed: PMID:18269685   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1469-1809.2007.00416.x   (Journal Full-text)

Type 2 diabetes (T2D) has been linked to chromosome 1q21-24 in multiple samples, including a Utah family sample. Variants in 13 of the numerous candidate genes in the 1q region were tested for association with T2D in a Utah case-control sample. The most promising, 19 variants in 6 candidates, were genotyped on the Utah family sample. Herein, we tested the 19 variants individually and in pairs for an effect on T2D risk in family members using a logistic regression model that accounted for gender, age, and BMI and attributed residual genetic effects to a polygenic component. Seven variants increased risk significantly through 5 pairs of interactions. The significant variant pairs were apolipoprotein A-II (APOA2) rs6413453 interacting with calsequestrin 1 (CASQ1) rs617698, dual specificity phosphatase 12 (DUSP12) rs1503814, and retinoid X receptor gamma (RXRG) rs10918169, a poly-T insertion-deletion polymorphism in liver pyruvate kinase (PKLR) interacting with APOA2 rs12143180, and DUSP12 rs1027702 interacting with RXRG rs10918169. Genotypes of these 5 variant pairs accounted for 25.8% of the genetic variance in T2D in these pedigrees.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
type 2 diabetes mellitus  IAGP 2314133DNA:SNP: :rs617698(human)RGD 
type 2 diabetes mellitus  ISOCASQ1 (Homo sapiens)2314133; 2314133DNA:snp: :rs617698(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Casq1  (calsequestrin 1)

Genes (Mus musculus)
Casq1  (calsequestrin 1)

Genes (Homo sapiens)
CASQ1  (calsequestrin 1)


Additional Information