rs6259
| Orientation | plus |
| Stabilized | plus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 7633209 |
| Gene | SHBG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6259 |
| dbSNP (classic) | rs6259 |
| ClinGen | rs6259 |
| ebi | rs6259 |
| HLI | rs6259 |
| Exac | rs6259 |
| Gnomad | rs6259 |
| Varsome | rs6259 |
| LitVar | rs6259 |
| Map | rs6259 |
| PheGenI | rs6259 |
| Biobank | rs6259 |
| 1000 genomes | rs6259 |
| hgdp | rs6259 |
| ensembl | rs6259 |
| geneview | rs6259 |
| scholar | rs6259 |
| rs6259 | |
| pharmgkb | rs6259 |
| gwascentral | rs6259 |
| openSNP | rs6259 |
| 23andMe | rs6259 |
| SNPshot | rs6259 |
| SNPdbe | rs6259 |
| MSV3d | rs6259 |
| GWAS Ctlg | rs6259 |
| GMAF | 0.08724 |
| Max Magnitude | 0 |
| ? | (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 19005973
]
[PMID 19168589] Variants in hormone-related genes and the risk of biliary tract cancers and stones: a population-based study in China
[PMID 19657112] Sex Hormone-Binding Globulin and Risk of Type 2 Diabetes in Women and Men
[PMID 19679209] 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
[PMID 17411440] Ovarian cancer risk and common variation in the sex hormone-binding globulin gene: a population-based case-control study.
[PMID 18603647] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
[PMID 18628428] 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 19015200] Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer.
[PMID 19064566] 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 20616999] Usefulness of Mendelian randomization in observational epidemiology.
[PMID 21030499] Coffee and caffeine consumption in relation to sex hormone-binding globulin and risk of type 2 diabetes in postmenopausal women.
[PMID 21252242] 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.
[PMID 22633539] 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 22936694] 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.
[PMID 30520140] Effect of sex hormone-binding globulin polymorphisms on the outcome of in vitro fertilization-embryo transfer for polycystic ovary syndrome patients: A case-control study.
