Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28954113
rs28954113
LEP
CUI: C0028754
Disease: Obesity
Obesity
0.030 GeneticVariation BEFREE The p. N103K mutation of leptin (LEP) gene and severe early onset obesity in Pakistan. 27075752

2016

dbSNP: rs28954113
rs28954113
LEP
CUI: C0028754
Disease: Obesity
Obesity
0.030 GeneticVariation BEFREE We now describe two siblings, a 9-year-old girl and a 6-year-old boy with severe early-onset obesity and hyperphagia, both homozygous for a c.309C>A substitution in the leptin gene leading to a p.N103K amino acid exchange in the protein and detectable circulating levels of leptin. 26186301

2015

dbSNP: rs28954113
rs28954113
LEP
CUI: C0028754
Disease: Obesity
Obesity
0.030 GeneticVariation BEFREE The obese phenotype-inducing N82K mutation in human leptin disrupts receptor-binding and biological activity. 20307995

2010

dbSNP: rs2167270
rs2167270
LEP
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 GeneticVariation BEFREE Leptin rs2167270 G > A (G19A) polymorphism may decrease the risk of cancer: A case-control study and meta-analysis involving 19 989 subjects. 30697798

2019

dbSNP: rs2167270
rs2167270
LEP
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 GeneticVariation BEFREE Leptin rs2167270 G > A (G19A) polymorphism may decrease the risk of cancer: A case-control study and meta-analysis involving 19 989 subjects. 30697798

2019

dbSNP: rs2167270
rs2167270
LEP
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 GeneticVariation BEFREE Two variants in the leptin gene showed statistically significant associations with CRC among women: LEP rs2167270 (OR = 1.13, 95% CI: 1.06-1.21) and LEP rs4731426 (OR = 1.09, 95% CI: 1.02-1.17). 30379922

2018

dbSNP: rs2167270
rs2167270
LEP
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 GeneticVariation BEFREE Overall, the LEP A19G (rs2167270) genetic polymorphism was associated with lower cancer risk. 24845032

2014

dbSNP: rs2167270
rs2167270
LEP
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 GeneticVariation BEFREE Overall, the LEP A19G (rs2167270) genetic polymorphism was associated with lower cancer risk. 24845032

2014

dbSNP: rs2167270
rs2167270
LEP
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 GeneticVariation BEFREE These findings suggest that the LEP A19G (rs2167270) genetic polymorphism may decrease the susceptibility to cancers in colorectal cancer and non-Hodgkin's lymphoma, when assuming a homozygote codominant model and a recessive genetic model among Latin American population. 24845032

2014

dbSNP: rs13228377
rs13228377
LEP
CUI: C0004096
Disease: Asthma
Asthma
0.010 GeneticVariation BEFREE We observed that LEP polymorphism (rs13228377) was associated with higher serum leptin levels in asthma and these two variables had high predictive value for asthma risk (P = 0.007, odds ratio 17.5, predictive accuracy 83.9%). 30203371

2018

dbSNP: rs1800564
rs1800564
LEP
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
0.010 GeneticVariation BEFREE In this study, we explored whether functionally relevant genetic polymorphisms in SRD5A2 (V89L, A49T, [TA](n)) are linked to alcohol addiction and craving. 22707254

2012

dbSNP: rs199647957
rs199647957
LEP
CUI: C0028754
Disease: Obesity
Obesity
0.010 GeneticVariation BEFREE The IL-6 G174C polymorphism was also associated obesity when using allelic comparisons, the recessive genetic model and the dominant genetic model with OR (95% CI) of 1.95 (1.37-2.77), 1.44 (1.15-1.80), and 1.36 (1.16-1.59), respectively. 21660081

2012

dbSNP: rs200343690
rs200343690
LEP
CUI: C0028754
Disease: Obesity
Obesity
0.010 GeneticVariation BEFREE This study was to investigate the prevalence of single nucleotide polymorphisms (SNPs) in RETN gene 420C/G; 44G/A; 62G/A; 394C/G and 299 G/A and their association with Resistin level and obesity in Tunisian volunteers. 28393393

2018

dbSNP: rs200487063
rs200487063
LEP
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 GeneticVariation BEFREE Near the sites binding to TATA-binding protein (TBP) in human gene promoters, we found 22 obesity-related candidate SNP markers, including rs10895068 (male breast cancer in obesity); rs35036378 (reduced risk of obesity after ovariectomy); rs201739205 (reduced risk of obesity-related cancers due to weight loss by diet/exercise in obese postmenopausal women); rs183433761 (obesity resistance during a high-fat diet); rs367732974 and rs549591993 (both: cardiovascular complications in obese patients with type 2 diabetes mellitus); rs200487063 and rs34104384 (both: obesity-caused hypertension); rs35518301, rs72661131, and rs562962093 (all: obesity); and rs397509430, rs33980857, rs34598529, rs33931746, rs33981098, rs34500389, rs63750953, rs281864525, rs35518301, and rs34166473 (all: chronic inflammation in comorbidities of obesity). 26694100

2015

dbSNP: rs200487063
rs200487063
LEP
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE Near the sites binding to TATA-binding protein (TBP) in human gene promoters, we found 22 obesity-related candidate SNP markers, including rs10895068 (male breast cancer in obesity); rs35036378 (reduced risk of obesity after ovariectomy); rs201739205 (reduced risk of obesity-related cancers due to weight loss by diet/exercise in obese postmenopausal women); rs183433761 (obesity resistance during a high-fat diet); rs367732974 and rs549591993 (both: cardiovascular complications in obese patients with type 2 diabetes mellitus); rs200487063 and rs34104384 (both: obesity-caused hypertension); rs35518301, rs72661131, and rs562962093 (all: obesity); and rs397509430, rs33980857, rs34598529, rs33931746, rs33981098, rs34500389, rs63750953, rs281864525, rs35518301, and rs34166473 (all: chronic inflammation in comorbidities of obesity). 26694100

2015

dbSNP: rs200487063
rs200487063
LEP
CUI: C0028754
Disease: Obesity
Obesity
0.010 GeneticVariation BEFREE Near the sites binding to TATA-binding protein (TBP) in human gene promoters, we found 22 obesity-related candidate SNP markers, including rs10895068 (male breast cancer in obesity); rs35036378 (reduced risk of obesity after ovariectomy); rs201739205 (reduced risk of obesity-related cancers due to weight loss by diet/exercise in obese postmenopausal women); rs183433761 (obesity resistance during a high-fat diet); rs367732974 and rs549591993 (both: cardiovascular complications in obese patients with type 2 diabetes mellitus); rs200487063 and rs34104384 (both: obesity-caused hypertension); rs35518301, rs72661131, and rs562962093 (all: obesity); and rs397509430, rs33980857, rs34598529, rs33931746, rs33981098, rs34500389, rs63750953, rs281864525, rs35518301, and rs34166473 (all: chronic inflammation in comorbidities of obesity). 26694100

2015

dbSNP: rs200487063
rs200487063
LEP
CUI: C0242787
Disease: Malignant neoplasm of male breast
Malignant neoplasm of male breast
0.010 GeneticVariation BEFREE Near the sites binding to TATA-binding protein (TBP) in human gene promoters, we found 22 obesity-related candidate SNP markers, including rs10895068 (male breast cancer in obesity); rs35036378 (reduced risk of obesity after ovariectomy); rs201739205 (reduced risk of obesity-related cancers due to weight loss by diet/exercise in obese postmenopausal women); rs183433761 (obesity resistance during a high-fat diet); rs367732974 and rs549591993 (both: cardiovascular complications in obese patients with type 2 diabetes mellitus); rs200487063 and rs34104384 (both: obesity-caused hypertension); rs35518301, rs72661131, and rs562962093 (all: obesity); and rs397509430, rs33980857, rs34598529, rs33931746, rs33981098, rs34500389, rs63750953, rs281864525, rs35518301, and rs34166473 (all: chronic inflammation in comorbidities of obesity). 26694100

2015

dbSNP: rs200487063
rs200487063
LEP
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
0.010 GeneticVariation BEFREE Near the sites binding to TATA-binding protein (TBP) in human gene promoters, we found 22 obesity-related candidate SNP markers, including rs10895068 (male breast cancer in obesity); rs35036378 (reduced risk of obesity after ovariectomy); rs201739205 (reduced risk of obesity-related cancers due to weight loss by diet/exercise in obese postmenopausal women); rs183433761 (obesity resistance during a high-fat diet); rs367732974 and rs549591993 (both: cardiovascular complications in obese patients with type 2 diabetes mellitus); rs200487063 and rs34104384 (both: obesity-caused hypertension); rs35518301, rs72661131, and rs562962093 (all: obesity); and rs397509430, rs33980857, rs34598529, rs33931746, rs33981098, rs34500389, rs63750953, rs281864525, rs35518301, and rs34166473 (all: chronic inflammation in comorbidities of obesity). 26694100

2015

dbSNP: rs2071045
rs2071045
LEP
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.010 GeneticVariation BEFREE However, further analysis in patients with SLE showed that the TT genotype and T allele frequencies of the LEP rs2071045 polymorphism were nominally significantly higher in patients with pericarditis (P = 0.012, P = 0.011, respectively). 28244652

2017

dbSNP: rs2071045
rs2071045
LEP
CUI: C0031046
Disease: Pericarditis
Pericarditis
0.010 GeneticVariation BEFREE However, further analysis in patients with SLE showed that the TT genotype and T allele frequencies of the LEP rs2071045 polymorphism were nominally significantly higher in patients with pericarditis (P = 0.012, P = 0.011, respectively). 28244652

2017

dbSNP: rs2071045
rs2071045
LEP
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.010 GeneticVariation BEFREE Additionally, maternal LEP rs2071045 (RR = 1.31, 95% CI: 1.08, 1.60) and offspring UCP2 rs660339 (RR = 1.32, 95% CI: 1.06, 1.64) were associated with NTD risk. 23132673

2012

dbSNP: rs2167270
rs2167270
LEP
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 GeneticVariation BEFREE This case-control study highlights that <i>LEP</i> rs7799039 A>G and rs2167270 G>A polymorphisms increase the susceptibility to HCC; however, <i>LEPR</i> rs6588147 G>A polymorphism may be a protective factor for HCC in Eastern Chinese Han population. 29695916

2018

dbSNP: rs2167270
rs2167270
LEP
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes
0.010 GeneticVariation BEFREE The results of our study suggest an association between adiponectin gene rs266729 as well as leptin gene rs2167270 polymorphisms and GDM. 28050671

2017

dbSNP: rs2167270
rs2167270
LEP
CUI: C1504532
Disease: Post transplant diabetes mellitus
Post transplant diabetes mellitus
0.010 GeneticVariation BEFREE The results of our study suggest an association between the leptin rs2167270 gene A allele and PTDM. 26282401

2015

dbSNP: rs2167270
rs2167270
LEP
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
0.010 GeneticVariation BEFREE These findings suggest that the LEP A19G (rs2167270) genetic polymorphism may decrease the susceptibility to cancers in colorectal cancer and non-Hodgkin's lymphoma, when assuming a homozygote codominant model and a recessive genetic model among Latin American population. 24845032

2014