Have questions? Visit https://www.reddit.com/r/SNPedia

rs1044498

From SNPedia

Orientationplus
Stabilizedplus
Make rs1044498(A;A)
Make rs1044498(A;C)
Make rs1044498(C;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position131851228
GeneENPP1
is asnp
is mentioned by
dbSNPrs1044498
ebirs1044498
HLIrs1044498
Exacrs1044498
Varsomers1044498
Maprs1044498
PheGenIrs1044498
hapmaprs1044498
1000 genomesrs1044498
hgdprs1044498
ensemblrs1044498
gopubmedrs1044498
geneviewrs1044498
scholarrs1044498
googlers1044498
pharmgkbrs1044498
gwascentralrs1044498
openSNPrs1044498
23andMers1044498
23andMe allrs1044498
SNP Nexus

SNPshotrs1044498
SNPdbers1044498
MSV3drs1044498
GWAS Ctlgrs1044498
GMAF0.2925
Max Magnitude
? (A;A) (A;C) (C;C) 28
OMIM173335
DescINSULIN RESISTANCE, SUSCEPTIBILITY TO
Variant0006
Relatedalso

blog ENPP1 harbors a mutation with a derived state known to protect against obesity and type II diabetes27 that is present in 90% of non-Africans but virtually absent in Africans

[PMID 18426862OA-icon.png] K121Q (rs1044498) The Q allele of ENPP1 K121Q is associated with hyperglycemia and insulin resistance in whites. increased fasting plasma glucose (FPG), A1C, fasting insulin, and insulin resistance by homeostasis model assessment (HOMA-IR; all P = 0.01-0.006).


[PMID 19399648] Possible role for ENPP1 polymorphism in obesity but not for INSIG2 and PLIN variants


[PMID 19656007OA-icon.png] Genetic Variants of the ENPP1/PC-1 Gene Are Associated with Hypertriglyceridemia in Male Subjects


[PMID 20091022] The ENPP1 K121Q polymorphism determines individual susceptibility to the insulin-sensitising effect of lifestyle intervention


[PMID 21198320] Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 K173Q Polymorphism Is Associated with Diabetic Nephropathy in the Taiwanese Population


[PMID 21282363OA-icon.png] The ENPP1 Q121 Variant Predicts Major Cardiovascular Events in High-Risk Individuals: Evidence for Interaction With Obesity in Diabetic Patients


[PMID 21565692] ENPP1/PC-1 Gene K121Q Polymorphism Is Associated with Obesity in European Adult Populations: Evidence from A Meta-Analysis Involving 24 324 Subjects


ClinVar
Risk rs1044498(C;C)
Alt rs1044498(C;C)
Reference rs1044498(A;A)
Significance Other
Disease Insulin resistance Diabetes mellitus type 2 Obesity not specified
Variation info
Gene ENPP1
CLNDBN Insulin resistance, susceptibility to Diabetes mellitus type 2 Obesity not specified
Reversed 0
HGVS NC_000006.11:g.132172368A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014558.3, RCV000014559.3, RCV000033192.3, RCV000178259.1,



[PMID 16207325OA-icon.png] Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population.

[PMID 16865358] Studies of the relationship between the ENPP1 K121Q polymorphism and type 2 diabetes, insulin resistance and obesity in 7,333 Danish white subjects.

[PMID 17065359] Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity.

[PMID 17704904] ENPP1 K121Q polymorphism and obesity, hyperglycaemia and type 2 diabetes in the prospective DESIR Study.

[PMID 18184924] Association of the distal region of the ectonucleotide pyrophosphatase/phosphodiesterase 1 gene with type 2 diabetes in an African-American population enriched for nephropathy.

[PMID 18498634OA-icon.png] The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies.

[PMID 18603647OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.

[PMID 18678618OA-icon.png] Comprehensive association study of type 2 diabetes and related quantitative traits with 222 candidate genes.

[PMID 18719658OA-icon.png] Gender differences in the relationship of ENPP1/PC-1 variants to obesity in a Turkish population.

[PMID 18950909OA-icon.png] Association of the Q121 variant of ENPP1 gene with decreased kidney function among patients with type 2 diabetes.

[PMID 19017751OA-icon.png] The association of ENPP1 K121Q with diabetes incidence is abolished by lifestyle modification in the diabetes prevention program.

[PMID 19368707OA-icon.png] Contribution of type 2 diabetes associated loci in the Arabic population from Tunisia: a case-control study.

[PMID 19593725OA-icon.png] Association of maternally inherited GNAS alleles with African-American male birth weight.

[PMID 19643578OA-icon.png] Genetic risk factors for type 2 diabetes with pharmacologic intervention in African-American patients with schizophrenia or schizoaffective disorder.

[PMID 20981035] The ENPP1 K121Q polymorphism is not associated with type 2 diabetes or obesity in the Chinese Han population.

[PMID 21283750OA-icon.png] Studies of the association of Arg72Pro of tumor suppressor protein p53 with type 2 diabetes in a combined analysis of 55,521 Europeans.

[PMID 22391941] Meta-analysis of association studies between five candidate genes and type 2 diabetes in Chinese Han population.


[PMID 23036011OA-icon.png] Shared ancestral susceptibility to colorectal cancer and other nutrition related diseases


GET Evidence
ENPP1-K121Q
aa_change Lys121Gln
aa_change_short K121Q
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.330645
summary



[PMID 23111648] Evaluation of the ENPP1 and PLIN Single Nucleotide Polymorphisms With Type 2 Diabetes in a Taiwanese Population: Evidence for Replication and Gene-Gene Interaction


[PMID 22749234] Contribution of common variants of ENPP1, IGF2BP2, KCNJ11, MLXIPL, PPARγ, SLC30A8 and TCF7L2 to the risk of type 2 diabetes in Lebanese and Tunisian Arabs


[PMID 23633196] Joint effect of insulin signaling genes on insulin secretion and glucose homeostasis


[PMID 24332798OA-icon.png] Maternal-fetal metabolic gene-gene interactions and risk of neural tube defects


[PMID 23107043OA-icon.png] Joint effect of insulin signaling genes on cardiovascular events and on whole body and endothelial insulin resistance.


[PMID 25794151OA-icon.png] Association between the ENPP1 K121Q Polymorphism and Risk of Diabetic Kidney Disease: A Systematic Review and Meta-Analysis


[PMID 25463099OA-icon.png] Joint effect of insulin signaling genes on all-cause mortality


[PMID 27238374] The ENPP1 K121Q polymorphism is associated with type 2 diabetes and related metabolic phenotypes in a Taiwanese population.