• This SNP is linked to the Leptin Receptor gene, which controls the production of leptin which regulates hunger [R].

The Minor "G" allele is associated with:

  • Lower BMI 

  • Higher total cholesterol, (highest in GG)

  • A lower thickness of the carotid (important blood vessel). [R]

  • Increased risk of developing luminal A subtype of breast cancer . [R]

  • Lower risk of developing breast cancer (R).

  • Increased risk of being overweight (found in french white women) [R].

  • Possible increased risk of development of nervous system defects (spina bifida) in GG children [R].

  • Increased effects of exercise on insulin effect (G) and glucose tolerance effect (GG) (found in white males) [R].

  • GG= lower risk of fatty liver disease compared to AA (in both Caucasian Americans and African Americans)  [R].

  • Less probability of developing fatty liver disease when infected with Hepatitis C virus (African Americans) [R]. AG and GG had 30% lower odds of developing fatty liver disease [R].

  • Milder symptoms (G) and decreased scarring tissue (GG) in patients with fatty liver disease [R]. 

  • Lower risk of developing metabolic syndrome (GG) [R].

  • Lower cholesterol in Japanese children (GG) [R].

  • Increased risk of neural defects (myelomeningocele) in children when this SNP is transmitted from the mother side (Chilean population) [R].

The Major "A" allele is associated with:

  • Higher BMI (body mass index) and FMI (fat mass index) in European adolescents [R

  • Increased waist length in European adolescents (AA) [R].

  • Glucose metabolism is not affected by exercise in white males [R].

  • A decrease in blood pressure after physical activity in overweight patients [R].

  • The A allele is more frequent in patients with Follicular thyroid cancer [R].

  • Association with reduced blood pressure during increased physical activity [R]

    • "Systolic blood pressure decreased only in the Lys109 homozygotes who increased their  physical activity (PA), whereas the carriers of the Arg109 allele did not respond to changes in PA"

This SNP is associated with (unknown alleles):

  • Increased obesity in Indian children [R]

  • Increased risk of fatty liver disease in a Malaysian population  [R]

  • Increased risk of osteoporosis [R]

  • higher weight and much higher risk of obesity (Pacific Islanders) [R].

  • Increased death rate from prostate cancer [R].


  • A=Lys=K [R]
  • G=Arg=R [R]


Parent Gene: LEPR

Importance: 4
Less common allele: G = 32%
More common allele: A = 68%
My Genotype: Log In