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


From SNPedia

Make rs1044498(A;A)
Make rs1044498(A;C)
Make rs1044498(C;C)
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs1044498
23andMe allrs1044498
SNP Nexus

GWAS Ctlgrs1044498
Max Magnitude
? (A;A) (A;C) (C;C) 28

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

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
aa_change Lys121Gln
aa_change_short K121Q
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.330645

[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.