|(A;A)||4||won't go bald|
|(A;G)||2||Increased risk of baldness|
|(G;G)||0.5||able to go bald|
|?||(A;A) (A;G) (G;G)||28|
rs6152, located in the first exon of the androgen receptor AR gene located on the X chromosome, is highly indicative of the ability to develop male pattern baldness. The risk allele is (G). However, although it appears to be necessary for baldness to develop, other (as yet unknown) variations must also be present for baldness to actually occur. [PMID 11231320], [PMID 17256155]
Since this SNP is on the X chromosome, and affects a trait primarily seen only in males, a single allele is shown as representing the individual's genotype. However, baldness may also occur in females, presumably only in females homozygous for rs6152(G;G) and also harboring the (as yet unknown) additional variations required for baldness.
Note: The colorful and informative Figure 1 in [PMID 17256155] shows the probability of varying degrees of baldness as men age depending on whether they are rs6152(A) or rs6152(G).
Note: A subsequent study has found that rs1160312 may be an important additional variant acting in conjunction with rs6152 to influence baldness.
- lowest P value of 2.1×10-12 for rs10521339
- family based rs938059 shows the lowest P value (4.03×10-6) (table 3)
- rs6152 (P=6.66×10-10)
[PMID 21981665] Androgen receptor gene polymorphisms and risk for androgenetic alopecia: a meta-analysis
[PMID 15570555] Systematic evaluation of genetic variation at the androgen receptor locus and risk of prostate cancer in a multiethnic cohort study.
[PMID 15994977] Androgen receptor cytosine, adenine, guanine repeats, and haplotypes in relation to ovarian cancer risk.
[PMID 16987421] A comprehensive analysis of the androgen receptor gene and risk of breast cancer: results from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3).
[PMID 18385763] EDA2R is associated with androgenetic alopecia.
[PMID 19167832] Possible association between the androgen receptor gene and autism spectrum disorder.
[PMID 19190146] Genetic variation in the androgen receptor gene and endometrial cancer risk.
[PMID 19555469] A prospective study of androgen levels, hormone-related genes and risk of rheumatoid arthritis.
[PMID 20450840] Association of AR rs6152G/A gene polymorphism with susceptibility to polycystic ovary syndrome in Chinese women.
[PMID 23441776] Androgen receptor genetic variants in male patients with ankylosing spondylitis in Taiwan
|Disease||Androgen resistance syndrome not specified|
|CLNDBN||Androgen resistance syndrome not specified|
[PMID 30900623] Association between androgen receptor gene polymorphisms and testicular germ cell tumor: A systematic review and meta-analysis.