SelfDecode uses the only scientifically validated genetic prediction technology for consumers. Read more

rs7756992

Chromosome : 6 , Position: 20679478

Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.

Reference Allele: A

Alternative Alleles: G, T

Associated Genes

CDKAL1

E2F3

MBOAT1

Traits

Trait	Variant	PMID	Author (year)
Infant head circumference (MTAG)	G	Front Genet	Yang XL (2019)
Birth length (MTAG)	G	Front Genet	Yang XL (2019)
Birth weight (MTAG)	G	Front Genet	Yang XL (2019)
Glycated hemoglobin levels	G	PLoS Med	Wheeler E (2017)
Psoriasis or type 2 diabetes (trans-disease meta-analysis)	G	J Invest Dermatol	Patrick MT (2020)
Type 2 diabetes	G	Nat Genet	Mahajan A (2014)
Type 2 diabetes (adjusted for BMI)	G	Nat Genet	Mahajan A (2018)
Type 2 diabetes [additive model]	G	Diabetologia	Wood AR (2016)

Summary

Polycystic Kidney disease

[type-2 diabetes in 1,630 Japanese subjects and in 1,064 controls

[type-2 diabetes risk in 1,900 Japanese patients, with odds ratio of 1.27 (CI: 1.15-1.40, p = 9.8 x 10e-7)

[type 2 diabetes patients and 1,858 controls

rs7756992 non-significant

[type-2 diabetes in a study of 500+ Japanese patients plus pooled meta-analysis with 6 previous association studies (also of Japanese).

[PMID 19718565] Genetic variants of cyclin-dependent kinase 5 regulatory subunit associated protein 1-like 1 and transcription factor 7-like 2 are not associated with polycystic ovary syndrome in Chinese women

[PMID 19592620] Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene

[PMID 20043145] Improvements in glucose homeostasis in response to regular exercise are influenced by the PPARG Pro12Ala variant: results from the HERITAGE Family Study

[PMID 20490451] Type 2 diabetes risk alleles near ADCY5, CDKAL1 and HHEX-IDE are associated with reduced birthweight

[PMID 22052079] Association analysis of 31 common polymorphisms with type 2 diabetes and its related traits in Indian sib pairs

[PMID 21611789] The carriage of risk variants of CDKAL1 impairs beta-cell function in both diabetic and non-diabetic patients and reduces response to non-sulfonylurea and sulfonylurea agonists of the pancreatic KATP channel

[PMID 22437209] Genetic variants on chromosome 6p21.1 and 6p22.3 are associated with type 2 diabetes risk: a case-control study in Han Chinese

[PMID 17786212] Heterogeneity in meta-analyses of genome-wide association investigations.

[PMID 17928989] Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population.

[PMID 18210030] Analysis of novel risk loci for type 2 diabetes in a general French population: the D.E.S.I.R. study.

[PMID 18426861] Association analysis of type 2 diabetes Loci in type 1 diabetes.

[PMID 18469204] Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 Asians.

[PMID 18633108] Common variants in CDKAL1, CDKN2A/B, IGF2BP2, SLC30A8, and HHEX/IDE genes are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population.

[PMID 18835935] Genome-wide linkage scan in Gullah-speaking African American families with type 2 diabetes: the Sea Islands Genetic African American Registry (Project SuGAR).

[PMID 19002430] Type 2 diabetes-associated genetic variants discovered in the recent genome-wide association studies are related to gestational diabetes mellitus in the Korean population.

[PMID 19008344] Association analysis of variation in/near FTO, CDKAL1, SLC30A8, HHEX, EXT2, IGF2BP2, LOC387761, and CDKN2B with type 2 diabetes and related quantitative traits in Pima Indians.

[PMID 19279076] Genetic predisposition, Western dietary pattern, and the risk of type 2 diabetes in men.

[PMID 19401414] Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.

[PMID 19455305] No association of multiple type 2 diabetes loci with type 1 diabetes.

[PMID 19474294] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

[PMID 19750184] Genome-wide association studies for atherosclerotic vascular disease and its risk factors.

[PMID 19862325] PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population.

[PMID 20080751] Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3.

[PMID 20580033] Replication of recently described type 2 diabetes gene variants in a South Indian population.

[PMID 21278902] Genetic risk profiling for prediction of type 2 diabetes.

[PMID 21368910] Heterogeneity of genetic associations of CDKAL1 and HHEX with susceptibility of type 2 diabetes mellitus by gender.

[PMID 21416855] [Relationship of the CDKAL1 and KCNQ1 gene polymorphisms to the age at diagnosis of type 2 diabetes in the Slovakian population].

[PMID 22119613] Replication study of common variants in CDKAL1 and CDKN2A/2B genes associated with type 2 diabetes in Lebanese Arab population.

[PMID 22292718] Variation in CDKAL1 gene is associated with therapeutic response to sulphonylureas.

[PMID 23990951] Association of genetic variants with isolated fasting hyperglycaemia and isolated postprandial hyperglycaemia in a han chinese population

[PMID 24468095] Genetic variants for type 2 diabetes and new-onset cancer in Chinese with type 2 diabetes

[PMID 25634229] A cautionary tale: the non-causal association between type 2 diabetes risk SNP, rs7756992, and levels of non-coding RNA, CDKAL1-v1

More Information

Polycystic Kidney disease

[type-2 diabetes in 1,630 Japanese subjects and in 1,064 controls

[type-2 diabetes risk in 1,900 Japanese patients, with odds ratio of 1.27 (CI: 1.15-1.40, p = 9.8 x 10e-7)

[type 2 diabetes patients and 1,858 controls

rs7756992 non-significant