- 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