SNP information rs1044498

Research and publications:

  10480624   A polymorphism (K121Q) of the human glycoprotein PC-1 gene coding region is strongly associated with insulin resistance.

  11739459   The Q121 PC-1 variant and obesity have additive and independent effects in causing insulin resistance.

  14671192   Genetic polymorphism PC-1 K121Q and ethnic susceptibility to insulin resistance.

  14988267   A genome-wide scan for childhood obesity-associated traits in French families shows significant linkage on chromosome 6q22.31-q23.2.

  15001634   The PC-1 Q121 allele is exceptionally prevalent in the Dominican Republic and is associated with type 2 diabetes.

  15126519   The association of the K121Q polymorphism of the plasma cell glycoprotein-1 gene with type 2 diabetes and hypertension depends on size at birth.

  16025115   Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes.

  16207325   Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population.

  16607460   No evidence for association of the ENPP1 (PC-1) K121Q variant with risk of type 2 diabetes in a Japanese population.

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

  16968801   ENPP1 variants and haplotypes predispose to early onset obesity and impaired glucose and insulin metabolism in German obese children.

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

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

  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.

  18426862   Haplotype structure of the ENPP1 Gene and Nominal Association of the K121Q missense single nucleotide polymorphism with glycemic traits in the Framingham Heart Study.

  18498634   The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies

  18603647   Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response

  18678618   Comprehensive association study of type 2 diabetes and related quantitative traits with 222 candidate genes

  18719658   Gender differences in the relationship of ENPP1/PC-1 variants to obesity in a Turkish population.

  18950909   Association of the Q121 variant of ENPP1 gene with decreased kidney function among patients with type 2 diabetes.

  19017751   The association of ENPP1 K121Q with diabetes incidence is abolished by lifestyle modification in the diabetes prevention program.

  19368707   Contribution of type 2 diabetes associated loci in the Arabic population from Tunisia: a case-control study.

  19399648   Possible role for ENPP1 polymorphism in obesity but not for INSIG2 and PLIN variants.

  19593725   Association of maternally inherited GNAS alleles with African-American male birth weight.

  19643578   Genetic risk factors for type 2 diabetes with pharmacologic intervention in African-American patients with schizophrenia or schizoaffective disorder.

  19656007   Genetic variants of the ENPP1/PC-1 gene are associated with hypertriglyceridemia in male subjects.

  19888898   Hip geometry variation is associated with bone mineralization pathway gene variants: The Framingham Study.

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

  20200332   Family-based analysis of candidate genes for polycystic ovary syndrome.

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

  21198320   Ectonucleotide pyrophosphatase/phosphodiesterase 1 K173Q polymorphism is associated with diabetic nephropathy in the Taiwanese population.

  21282363   The ENPP1 Q121 variant predicts major cardiovascular events in high-risk individuals: evidence for interaction with obesity in diabetic patients.

  21283750   Studies of the association of Arg72Pro of tumor suppressor protein p53 with type 2 diabetes in a combined analysis of 55,521 Europeans.

  21807602   Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations.

  21848424   Genetic associations with metabolic syndrome and its quantitative traits by race/ethnicity in the United States.

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

  23036011   Shared ancestral susceptibility to colorectal cancer and other nutrition related diseases.

  23073174   From genotype to human β cell phenotype and beyond

  23107043   Joint effect of insulin signaling genes on cardiovascular events and on whole body and endothelial insulin resistance.

  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.

  23422753   Genetic mapping and exome sequencing identify 2 mutations associated with stroke protection in pediatric patients with sickle cell anemia.

  23633196   Joint effect of insulin signaling genes on insulin secretion and glucose homeostasis.

  23776349   Pilot study of an association between a common variant in the non-muscle myosin heavy chain 9 (MYH9) gene and type 2 diabetic nephropathy in a Taiwanese population.

  24278702   The complex interplay of genetic and lifestyle risk factors in type 2 diabetes: an overview.

  24309190   Genetics of new-onset diabetes after transplantation.

  25794151   Association between the ENPP1 K121Q polymorphism and risk of diabetic kidney disease: a systematic review and meta-analysis.

  26365620   Genetic association of APOA5 and APOE with metabolic syndrome and their interaction with health-related behavior in Korean men.

  27051588   Analysis of single nucleotide polymorphisms implicate mTOR signalling in the development of new-onset diabetes after transplantation.

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

  27547017   Genetic factors that affect nonalcoholic fatty liver disease: A systematic clinical review.

  27657051   Molecular Pathogenesis of NASH.

  28942038   The ENPP1 K121Q polymorphism modulates developing of bone disorders in type 2 diabetes: A cross sectional study.

  29979387   ENPP1 K121Q (rs1044498 C > A) genetic polymorphism confers a high risk of susceptibility to coronary heart disease: A PRISMA-compliant article.

  30099416   [The analysis of association between ENPP1 K121Q polymorphism and risk factors of type 2 diabetes mellitus in ukrainian population].

  30444569   Genetic determinants of steatosis and fibrosis progression in paediatric non-alcoholic fatty liver disease.

  31231424   Genetic and Epigenetic Studies in Diabetic Kidney Disease.

  31250990   Association of genetic polymorphism of PC-1 gene (rs1044498 Lys121Gln) with insulin-resistant type 2 diabetes mellitus in Punjabi Population of Pakistan.

  31350533   MC4R and ENPP1 gene polymorphisms and their implication in maternal and neonatal risk for obesity.

  31902046   Single locus and haplotype association of ENPP1 gene variants with the development of retinopathy among type 2 diabetic patients.

  32434137   Biomarkers and genetic modulators of cerebral vasculopathy in sub-Saharan ancestry children with sickle cell anemia.

  34117605   Type 2 diabetes is associated with the MTNR1B gene, a genetic bridge between circadian rhythm and glucose metabolism, in a Turkish population.

  34131278   Genetic polymorphisms associated with obesity in the Arab world: a systematic review.

  34208364   Influence of Single Nucleotide Polymorphism of ENPP1 and ADIPOQ on Insulin Resistance and Obesity: A Case-Control Study in a Javanese Population.

  34675608   Association of the ENPP1/ENTPD1 Polymorphisms in Hemodialysis Patients.

  34803393   Pharmacogenomics and Personalized Medicine in Type 2 Diabetes Mellitus: Potential Implications for Clinical Practice.

  35178663   Distinctive clinical and genetic features of lean vs overweight fatty liver disease using the UK Biobank.