rs696217, GHRL;GHRLOS

N. diseases: 32
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
METABOLIC SYNDROME, SUSCEPTIBILITY TO
0.700 SusceptibilityMutation CLINVAR
OBESITY, AGE AT ONSET OF
CUI: C4016925
Disease: OBESITY, AGE AT ONSET OF
0.700 CausalMutation CLINVAR
Diabetes Mellitus, Non-Insulin-Dependent
0.060 GeneticVariation BEFREE MTLRP genetic polymorphism (214C>A) was associated with Type 2 diabetes in Caucasian population: a meta-analysis. 25095788 2014
Diabetes Mellitus, Non-Insulin-Dependent
0.060 GeneticVariation BEFREE The GHRL Leu72Met polymorphism may help to maintain normal renal function and may protect against the development of DN by reducing albuminuria and improving renal function in Chinese patients with type 2 diabetes. 24132517 2014
Diabetes Mellitus, Non-Insulin-Dependent
0.060 GeneticVariation BEFREE The Leu72Met polymorphism of the preproghrelin gene was not associated with T2DM in Chinese population. 22441120 2012
Diabetes Mellitus, Non-Insulin-Dependent
0.060 GeneticVariation BEFREE Recent studies have shown that the preproghrelin Leu72Met polymorphism is associated with serum creatinine (Scr) concentration in type 2 diabetes; 72Met carriers exhibited lower Scr levels as compared with the 72Met non-carriers. 16793966 2006
Diabetes Mellitus, Non-Insulin-Dependent
0.060 GeneticVariation BEFREE Our data indicate that the preproghrelin Leu72Met polymorphism is not associated with type 2 diabetes mellitus. 16483881 2006
Diabetes Mellitus, Non-Insulin-Dependent
0.060 GeneticVariation BEFREE The Leu72Met polymorphism of the preproghrelin gene was not related to cardiovascular disease in type 2 diabetes mellitus patients. 12974878 2003
Obesity
CUI: C0028754
Disease: Obesity
0.050 GeneticVariation BEFREE Average dietary energy in lunch, rs3782886, and rs696217 were associated with obesity, and rs3782886 was associated with other metabolic abnormalities. 27245511 2019
Obesity
CUI: C0028754
Disease: Obesity
0.050 GeneticVariation BEFREE Minor homozygotes for five preproghrelin gene polymorphisms, namely, -1500C>G (rs3755777), -1062G>C (rs26311), -994C>T (rs26312) (promoter region), Leu72Met (rs696217) (exon 2), and +3056T>C (rs2075356) (intron 2), had high values of total and visceral fat areas, waist circumference, and BMI, indicating significant correlation of the polymorphisms with obesity and fat metabolism. 23257630 2013
Obesity
CUI: C0028754
Disease: Obesity
0.050 GeneticVariation BEFREE The Leu72Met (+408C>A) polymorphism of the preproghrelin, has been linked to obesity, insulin resistance and diabetes. 22441120 2012
Obesity
CUI: C0028754
Disease: Obesity
0.050 GeneticVariation BEFREE The Leu72Met (+408C>A) polymorphic variant of the preproghrelin, the gene for the ghrelin precursor, has been linked to obesity, diabetes and metabolic syndrome. 17884032 2008
Obesity
CUI: C0028754
Disease: Obesity
0.050 GeneticVariation BEFREE The frequencies of the Leu72Met polymorphism were 29.3% in obese, 32.3% in overweight, and 32.5% in lean Korean children. 16459454 2005
Diabetic Nephropathy
CUI: C0011881
Disease: Diabetic Nephropathy
0.020 GeneticVariation BEFREE The GHRL Leu72Met polymorphism may help to maintain normal renal function and may protect against the development of DN by reducing albuminuria and improving renal function in Chinese patients with type 2 diabetes. 24132517 2014
Diabetes
CUI: C0011847
Disease: Diabetes
0.020 GeneticVariation BEFREE The Leu72Met (+408C>A) polymorphism of the preproghrelin, has been linked to obesity, insulin resistance and diabetes. 22441120 2012
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.020 GeneticVariation BEFREE The Leu72Met (+408C>A) polymorphism of the preproghrelin, has been linked to obesity, insulin resistance and diabetes. 22441120 2012
Metabolic Syndrome X
CUI: C0524620
Disease: Metabolic Syndrome X
0.020 GeneticVariation BEFREE The Leu72Met (+408C>A) polymorphic variant of the preproghrelin, the gene for the ghrelin precursor, has been linked to obesity, diabetes and metabolic syndrome. 17884032 2008
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.020 GeneticVariation BEFREE The Leu72Met polymorphism was not associated with hypertension, diabetes, dyslipidemia, the number of diseased vessels, plasma total cholesterol, triglyceride, high density lipoprotein cholesterol, low density lipoprotein cholesterol or fasting glucose levels in CAD patients. 17884032 2008
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.020 GeneticVariation BEFREE The frequency of the Leu72Met polymorphism in diabetic nephropathy was significantly lower in patients with renal dysfunction (15.9%, P < 0.01) than in patients with normal renal function (42.0%) or in the diabetes control group (40.6%). 16793966 2006
Diabetic Nephropathy
CUI: C0011881
Disease: Diabetic Nephropathy
0.020 GeneticVariation BEFREE The Leu72Met polymorphism was also associated with serum total cholesterol levels in diabetic nephropathy patients with renal dysfunction; the 72Met carriers had lower total cholesterol levels than the 72Met non-carriers (P < 0.05). 16793966 2006
Diabetes
CUI: C0011847
Disease: Diabetes
0.020 GeneticVariation BEFREE The frequency of the Leu72Met polymorphism in diabetic nephropathy was significantly lower in patients with renal dysfunction (15.9%, P < 0.01) than in patients with normal renal function (42.0%) or in the diabetes control group (40.6%). 16793966 2006
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.020 GeneticVariation BEFREE The Leu72Met polymorphism was not associated with hypertension, macroangiopathy, retinopathy, serum cholesterol, triglyceride, blood urea nitrogen, HbA(1c), lipoprotein (a), fasting insulin, or 24-hour urinary protein levels in the type 2 diabetic group. 16483881 2006
Metabolic Syndrome X
CUI: C0524620
Disease: Metabolic Syndrome X
0.020 GeneticVariation BEFREE The Leu72Met variant was also associated with increased prevalence of metabolic syndrome (23.2 vs. 13.4%; age- and sex-adjusted odds ratio = 2.57; P = 0.02) as well as higher fasting glucose, lower high-density lipoprotein, and higher triglyceride levels (P = 0.02, P = 0.007, and P = 0.04, respectively). 16204371 2005
Post-Traumatic Stress Disorder
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
0.010 GeneticVariation BEFREE However, a significant interaction effect between GHRL rs696217 and HCRTR1 rs2271933 was found to predict the PTSD Checklist (PCL-5) total score (P =  0.007). 30326460 2019
Overweight and obesity
CUI: C1561826
Disease: Overweight and obesity
0.010 GeneticVariation BEFREE The major allele of rs696217 significantly increased BMI and an increased OR with obesity, while the minor allele of rs3782886 was associated with significantly decreased AC and the decreased ORs with overweight and obesity. 27245511 2019