rs17822931, also known as c.538G>A or G180R, is a SNP in the ATP-binding cassette, sub-family C (CFTR/MRP), member 11 ABCC11 gene. The ABCC11 protein helps transport small molecules across apical membranes such as those in apocrine secretory cells.
[PMID 16444273] This SNP determines wet vs dry earwax as well as sweat production, and it is also associated with lipid secretion. It is commonly (T;T) for Asians and (C;C) for Europeans and Africans.
[PMID 23325016] A study of deodorant usage in a large (17,000+) population showed that rs17822931(T;T) individuals were at least 5-fold less likely to use deodorant, consistent with them being "genotypically nonodorous". Although not statistically significant, there was some evidence for a heterozygote effect, implying that individuals with a (C;C) genotype for this SNP were likely to use deodorant at a higher frequency than (C;T) genotypes.PMID 19650936] A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene
[PMID 20937735] The impact of natural selection on an ABCC11 SNP determining earwax type
|Disease||Apocrine gland secretion, Axillary odor, Colostrum secretion|
|CLNDBN||Apocrine gland secretion, variation in, Axillary odor, Colostrum secretion|
|CLNSRC||OMIM Allelic Variant|
|CLNACC||RCV000003737.1, RCV000003738.1, RCV000003739.1|
[PMID 16255080] A haplotype map of the human genome.
[PMID 17394018] A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland.
[PMID 18037328] Allele frequencies of a SNP and a 27-bp deletion that are the determinant of earwax type in the ABCC11 gene.
[PMID 18817904] Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies.
[PMID 19737746] Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation.
[PMID 21423094] Down-regulation of ABCC11 protein (MRP8) in human breast cancer.
|qualified_impact||Low clinical importance, Uncertain benign|
|summary||This variant is associated with dry type ear wax (a benign trait) in a recessive manner.|