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rs6259

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) normal
(A;G) normal
(G;G) 0 best inverse correlation between tea-drinking, soy-consuming premenopausal women and risk of endometrial cancer
ReferenceGRCh38 38.1/141
Chromosome17
Position7633209
GeneSHBG
is asnp
is mentioned by
dbSNPrs6259
ebirs6259
HLIrs6259
Exacrs6259
Varsomers6259
Maprs6259
PheGenIrs6259
hapmaprs6259
1000 genomesrs6259
hgdprs6259
ensemblrs6259
gopubmedrs6259
geneviewrs6259
scholarrs6259
googlers6259
pharmgkbrs6259
gwascentralrs6259
openSNPrs6259
23andMers6259
23andMe allrs6259
SNP Nexus

SNPshotrs6259
SNPdbers6259
MSV3drs6259
GWAS Ctlgrs6259
GMAF0.08724
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs6259, also known as Asp327Asn, is a SNP in the sex hormone-binding globulin SHBG gene. The rs6259(G) allele encodes the Asp, while the rs6259(A) allele encodes the Asn.

rs6259 was associated with decreased risk of endometrial cancer, particularly among postmenopausal women (odds ratio 0.79, CI: 0.62-1.00), in a case-control study of 1,199 endometrial cancer patients and 1,212 controls. There was an inverse association of soy intake and tea consumption being more evident for those with the rs6259(G;G) genotype, particularly premenopausal women (P(interaction) = 0.06 and 0.02, respectively, for soy isoflavones and tea intake). In other words, premenopausal rs6259(G;G) women have reduced risk for endometrial cancer when they intake more soy and consume more tea.[PMID 19005973OA-icon.png]


[PMID 19168589OA-icon.png] Variants in hormone-related genes and the risk of biliary tract cancers and stones: a population-based study in China


[PMID 19657112OA-icon.png] Sex Hormone-Binding Globulin and Risk of Type 2 Diabetes in Women and Men

[PMID 19679209OA-icon.png] Effects of Polymorphisms of the Sex Hormone-Binding Globulin (SHBG) Gene on Free Estradiol and Bone Mineral Density


[PMID 20432167] Dietary isoflavone intake, polymorphisms in the CYP17, CYP19, 17beta-HSD1, and SHBG genes, and risk of breast cancer in case-control studies in Japanese, Japanese Brazilians, and non-Japanese Brazilians

[PMID 9435448] Human variant sex hormone-binding globulin (SHBG) with an additional carbohydrate chain has a reduced clearance rate in rabbit

OMIM125853
Desc
Variant
Relatedalso
[PMID 17411440OA-icon.png] Ovarian cancer risk and common variation in the sex hormone-binding globulin gene: a population-based case-control study.

[PMID 18603647OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.

[PMID 18628428OA-icon.png] Polymorphisms in genes involved in sex hormone metabolism, estrogen plus progestin hormone therapy use, and risk of postmenopausal breast cancer.

[PMID 18980759] Polymorphisms of estrogen-related genes jointly confer susceptibility to human spermatogenic defect.

[PMID 19015200OA-icon.png] Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer.

[PMID 19064566OA-icon.png] Identification of common variants in the SHBG gene affecting sex hormone-binding globulin levels and breast cancer risk in postmenopausal women.

[PMID 19649728] Asp327Asn polymorphism of sex hormone-binding globulin gene is associated with systemic lupus erythematosus incidence.

[PMID 20533011] Serotonin-1A receptor gene polymorphism and the ability of antipsychotic drugs to improve attention in schizophrenia.

[PMID 20616999OA-icon.png] Usefulness of Mendelian randomization in observational epidemiology.

[PMID 21030499OA-icon.png] Coffee and caffeine consumption in relation to sex hormone-binding globulin and risk of type 2 diabetes in postmenopausal women.

[PMID 21252242OA-icon.png] Polymorphisms in the SHBG gene influence serum SHBG levels in women with polycystic ovary syndrome.

[PMID 21429951] Quantitative trait analysis suggests polymorphisms of estrogen-related genes regulate human sperm concentrations and motility.


GET Evidence
SHBG-D356N
aa_change Asp356Asn
aa_change_short D356N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0926752
summary



[PMID 22633539OA-icon.png] Selected polymorphisms in sex hormone-related genes, circulating sex hormones and risk of endometrial cancer.


[PMID 22711300] Association between SHBG Asp327Asn (rs6259) polymorphism and breast cancer risk: a meta-analysis of 10,454 cases and 13,111 controls.


[PMID 22936694OA-icon.png] Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men.


[PMID 23001781] Common variants in the sex hormone-binding globulin gene (SHBG) and polycystic ovary syndrome (PCOS) in Mediterranean women.


[PMID 23305451] Association of anthropometric, androgenic and insulin-related features with polymorphisms in exon 8 of SHBG gene in women with polycystic ovary syndrome.