• Higher levels of Leptin binding activity (GG) (R).
  • Increased Leptin (in breast cancer) (G) (R).
  • Lower leptin binding to the leptin receptor (more leptin resistance) (A).

The Minor "A" allele is associated with:

  • high LDL cholesterol [R].
  • lower insulin in overweight patients [R].
  • an increased risk of type 2 diabetes and other cardiovascular diseases [R].
  • a higher risk of developing breast cancer in multiple studies [R]. Other research indicated that a higher frequency of the G allele was associated with increased risk. These differences might be based on ethnicity (R).
  • a higher risk for oral cancer (R).
  • a 30 pounds (13.6 kg) weight increase in females, but not males, using antipsychotics (AA vs GG). were associated with a lower risk of obesity (R).
  • faster growth and more weight loss from growth hormone treatment. People with one or two A alleles suffering from the short stature of unknown origin grew faster at 2 years after Growth Hormone treatment [R].
  • higher body weight, higher BMI, and higher weight in Growth Hormone-deficient patients before GH treatment, but not after GH treatment [R].

The Major "G"  allele is associated with:

  • obesity, but only in the overweight (GG) (OR=1.8, p=0.049). (R)
  • higher daily caloric intake (GG) (R)
  • higher BMI (GG) (R)
  • higher Total Cholesterol (GG) (R)
  • higher blood sugar, insulin and insulin resistance (GG) (R)
  • lower HDL-C levels (GG) (R)
  • Thyroid Cancer development, but it does not equate to the level or aggression of the tumor (GG and AG increases risk) [R].
  • increased risk of breast cancer (GG) (R), but a meta analysis found that the A allele is more likely to get breast cancer .
  • higher risk for liver cancer (GG) (R).
  • higher risk of non-small cell lung cancer (GG) (R).
  • REduced levels of physical activity [R, R]

Note: One study found only an increased risk of cancer in Africans (R).

This SNP is associated with (unknown which alleles):

  • polycystic ovary syndrome (R)

Other: This SNP is also known asQ223R

  • A=Gln=Q (R)
  • G=Arg=R (R)


Parent Gene: LEPR

Importance: 5
Less common allele: A = 42%
More common allele: G = 58%
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