rs17822931

plus

Geno	Mag	Summary
(C;C)	2	Wet earwax. Normal body odour. Normal colostrum.
(C;T)	2	Wet earwax. Slightly better body odour.
(T;T)	2.5	Dry earwax. No body odour. Likely Asian ancestry. Reduced colostrum.

Reference

GRCh38 38.1/141

Chromosome

16

Position

48224287

Gene

ABCC11

is a	snp
is	mentioned by
dbSNP	rs17822931
dbSNP (classic)	rs17822931
ClinGen	rs17822931
ebi	rs17822931
HLI	rs17822931
Exac	rs17822931
Gnomad	rs17822931
Varsome	rs17822931
LitVar	rs17822931
Map	rs17822931
PheGenI	rs17822931
Biobank	rs17822931
1000 genomes	rs17822931
hgdp	rs17822931
ensembl	rs17822931
geneview	rs17822931
scholar	rs17822931
google	rs17822931
pharmgkb	rs17822931
gwascentral	rs17822931
openSNP	rs17822931
23andMe	rs17822931
SNPshot	rs17822931
SNPdbe	rs17822931
MSV3d	rs17822931
GWAS Ctlg	rs17822931

GMAF

0.3085

Max Magnitude

2.5

?

(C;C) (C;T) (T;T)

28

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 East 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.

gnxp indicates this SNP influences risk of breast cancer in Japanese women. This does not hold true in Caucasian women, though.[PMID 21655989]

reddit discussion

[PMID 23970085] Strong association of the SNP rs17822931 with wet earwax and bromhidrosis in a Chinese family

[PMID 23760047] The pharmacogenetics of body odor: as easy as ABCC?

[PMID 23325016 ] Dependence of deodorant usage on ABCC11 genotype: scope for personalized genetics in personal hygiene.

[PMID 21423094] Down-regulation of ABCC11 protein (MRP8) in human breast cancer.

[PMID 20937735] The impact of natural selection on an ABCC11 SNP determining earwax type

[PMID 19737746 ] Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation.

[PMID 19650936 ] A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of 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 18037328] Allele frequencies of a SNP and a 27-bp deletion that are the determinant of earwax type in the ABCC11 gene.

[PMID 17394018] A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland.

[PMID 16444273] A SNP in the ABCC11 gene is the determinant of human earwax type.

[PMID 16255080 ] A haplotype map of the human genome.

OMIM	607040
Desc	ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 11; ABCC11
Variant
Related	also

OMIM	607040
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs17822931(T;T)
Alt	Rs17822931(T;T)
Reference	Rs17822931(C;C)
Significance	Non-pathogenic
Disease	Apocrine gland secretion Axillary odor Colostrum secretion
Variation	info
Gene	ABCC11
CLNDBN	Apocrine gland secretion, variation in Axillary odor Colostrum secretion
Reversed	0
HGVS	NC_000016.9:g.48258198C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003737.3, RCV000003738.2, RCV000003739.2,

[PMID 27268641] No Association of the rs17822931 Polymorphism in ABCC11 with Breast Cancer Risk in Koreans.

[PMID 28485377 ] A missense variant of the ABCC11 gene is associated with Axillary Osmidrosis susceptibility and clinical phenotypes in the Chinese Han Population.

[PMID 30883634] A functional single nucleotide polymorphism in ABCC11, rs17822931, is associated with the risk of breast cancer in Japanese.