Table 1.
Deleterious effect (disease) | Gene: variation | Benefit |
---|---|---|
Increased risk of cancers: ovarian (females), prostate (males). | AR: CAG trinucleotide repeat lengths. | Females: increased fertility via reduced degree of pre-mature ovarian failure, reduced risk of breast cancer. Males: increased number of viable sperm, reduced risk of Kennedy's Disease. |
Huntington's disease. | HTT: CAG trinucleotide repeat lengths. | Increased fertility, decreased risk of certain cancers. |
Sickle cell disease. | Hbb: various point mutations. | Protection against malaria in the heterozygous state. |
Beta-thalassemia. | HB: various point mutations | Protection against malaria in the heterozygous state. |
Glucose-6-phosphate dehydrogenase (G6PD) deficiency. | G6PD: various missense mutations. | Protection against malaria. |
Cystic fibrosis (CF) | CFTR: missense mutation. | Increased fertility. |
Increased risk of osteoporosis in old age. | ALOX15: A:G intronic polymorphism. | Reduced risk of osetoporosis in youth. |
These diseases are described in more detail in the text, the presence of an advantage in addition to the deleterious effects of the disease is well-supported by detailed genetic or epidemiological information.