SNP ID Amino acid change Nucleotide change Parameter association Population Leptin level (% change)
valueReference
Leptin (Lep ) rs4731427 SNP associated with weight and waist circumference in African Americans Young adults (Caucasians, African Americans) [95 ] +19G > A No association with BMI, WHR, fasting glucose & insulin, lipids and leptin levels [96 ] No association with waist girth, plasma triglycerides, HDL-cholesterol, glucose and systolic, and diastolic blood pressure French Caucasian [97 ] No association with waist-to-hip ratio, fasting leptin, total cholesterol, high-density lipoproteins, triglycerides Italian Caucasian (obese/non-obese) [98 ] No genotype associated with BMI, but A allele associated with higher leptin levels in obese patients French Caucasian (obese/non-obese) 18.93 .001 [99 ] A allele in females associated with lower body weight, BMI and plasma leptin levels, lower risk of obesity African Americans and Caucasians 6.68 .01 [100 ] rs17151919 SNP associated with weight and waist circumference in African Americans and weight in Caucasians, waist circumference in Caucasian women Young adults (Caucasians, African Americans) [95 ] rs28954369 SNP associated with weight, waist circumference in African Americans and weight in Caucasians, waist circumference in Caucasian women Young adults (Caucasians, African Americans) [95 ] rs2167270 SNP associated with weight in Caucasians, waist circumference in Caucasian women Young adults (Caucasians, African Americans) [95 ] rs7799039 G > A A allele significantly associated with BMI Caucasians [101 ] ā2548 G > A G allele associated with overweight, and with lower leptin concentrations in men 17.46 .05 [102 ] A allele not associated with obesity Spanish Mediterranean [103 ]
Leptin Receptor (LepR ) rs1137101 Gln223Arg A > G G allele associated with BMI, WHR, leptin levels, and insulin levels Asian Indians (diabetic/ nondiabetic) .001 [104 ] G allele associated with higher BMI, fat mass, and serum leptin levels Caucasian women (post-menopausal) 31.15 .0001 [105 ] GG genotype associated with BMI in nonsmokers Brazilians of European descent (Caucasian) [106 ] G allele associated with increased rates of obesity, higher BMI and % fat mass Greek [107 ] GG genotype had larger subcutaneous abdominal adipocyte size than AA, however, no difference in overall adiposity Pima Indians [108 ] G allele associated with insulin resistance Caucasians [109 ] GG phenotype associated with lean phenotype Spanish Mediterranean [103 ] GG and AG genotypes associated with increased risk of familial hypercholesterolemia, but not obesity, insulin resistance or other lipid parameters Dutch [110 ] G allele associated with increased rate of obesity Brazilians (obese/non-obese) [111 ] AA genotype was associated with increased total abdominal fat Belgian Caucasian women (overweight and obese) [112 ] No association with BMI, fasting insulin, HOMA-IR, serum leptin, or soluble leptin receptor levels Japanese [113 ] G allele associated with increased adiposity Danish postmenopausal women [114 ] GG genotype had lower blood pressure compared to AA Swedish men (hypertensive/ normotensive) [115 ] G allele associated with CRC risk Czech (CRC patients) [46 ] G allele associated with higher fat mass and BMI [116 ] A allele associated with higher insulin, leptin levels, and body fat Mexican adolescents 62.02 .001 [117 ] No association with BMI, WHR, fasting glucose & insulin, lipids and leptin levels [96 ] AA genotype had greater risk of developing T2DM Finnish (impaired glucose tolerance) [118 ] G allele associated with BMI, change in BMI over time [119 ] Ser(T)343-Ser(C) T > C T allele associated with overweight and fat mass in women; C allele carriers more responsive to weight loss on a low calorie diet [120 ] +70 T > C C allele associated with fat mass in women [120 ] Lys656Asn G>C G allele associated with higher lean and fat mass Caucasians [121 ] No association with obesity, BMI, or % fat mass Greek [107 ] C allele associated with increased hip circumference, total abdominal fat, and subcutaneous fat Belgian Caucasian women (overweight and obese) [112 ] C allele associated with higher fasting glucose and fasting insulin in postmenopausal women Belgian Caucasian women (overweight and obese) [122 ] No association with blood pressure or BMI Swedish men (hypertensive/ normotensive) [115 ] No association with blood pressure, serum glucose, insulin, or leptin levels Mexican adolescents [117 ] Arg109Lys +5193 G > A No association with BMI, WHR, fasting glucose & insulin, lipids and leptin levels [96 ] AA genotype was associated with higher leptin levels in postmenopausal women Belgian Caucasian women (overweight and obese) 14.99 .02 [112 ] A allele positively associated with BMI Korean [123 ] No association with BMI, fasting insulin, HOMA-IR, serum leptin, or soluble leptin receptor levels Japanese [113 ] No association with obesity, BMI, or % fat mass Greek [107 ] A allele associated with fasting insulin in postmenopausal women Belgian Caucasian women (overweight and obese) [122 ] AA genotype had greater risk of developing T2DM Finnish (impaired glucose tolerance) [118 ] GG genotype had lower blood pressure and lower BMI compared to AA Swedish men (hypertensive/ normotensive) [115 ] rs1045895 SNP associated with change in BMI over time [119 ]