rs6259

Chromosome : 17 , Position: 7633209

Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.

Reference Allele: G

Alternative Alleles: A

Associated Genes

TNFSF12

SHBG

TNFSF13

CD68

MPDU1

CHRNB1

SENP3

SAT2

TNFSF12-TNFSF13

SOX15

NAA38

EFNB3

CNTROB

KDM6B

TMEM88

POLR2A

ATP1B2

FXR2

EIF4A1

SENP3-EIF4A1

TP53

WRAP53

DNAH2

SLC35G6

ZBTB4

FGF11

SPEM1

SPEM2

SPEM3

TMEM102

CHD3

CYB5D1

NLGN2

PLSCR3

TMEM256

TMEM256-PLSCR3

TNK1

ACAP1

GPS2

KCNAB3

KCTD11

NEURL4

RNF227

TMEM95

TRAPPC1

CLDN7

EIF5A

GUCY2D

SLC2A4

YBX2

ACADVL

ALOX15B

CTDNEP1

DLG4

DVL2

ELP5

GABARAP

PHF23

ALOX12B

ASGR1

ALOXE3

HES7

Traits

Trait	Variant	Impact	PMID	Author (year)
Brain morphology (MOSTest)	A		Nat Commun	van der Meer D (2020)

Summary

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.

Population Alleles Frequency

ethhicity	frequency
African/African-American	0.028
Latino/Admixed American	0.0743
Ashkenazi Jewish	0.0966
East Asian	0.1224
European	0.1054
Other (population not assigned)	0.0965

Frequently Asked Questions

Why Are Alleles for This SNP Different Elsewhere? Major vs. Reference Allele Is My Variant Good or Bad? SNP vs. Mutation

Unlock Personalized Results And So Much More!

Shipping Worldwide

30-Days Money-Back Guarantee*

HSA/FSA Eligible

Essential Bundle

SelfDecode DNA Kit

24/7 AI Health Coach
1250+ Comprehensive DNA Health Reports
Personalized Diet, Supplement, & Lifestyle Recommendations
Lifestyle Risk Assessments
Unlimited access to Labs Analyzer

$418

$376

Men's Health Month 10% Off

Essential

Bundle

Everything in essential
SelfDecode DNA Kit
Methylation Pathway
+130 Medical Reports
25+ Longevity Screener Risk Assessments

Odds ratios to evaluate your risk for 25+ medical conditions
10-year risk scores to prioritize health conditions
Lifetime risk scores to plan for long-term health

$667

$566

Men's Health Month 15% Off

Men's Health Month 30% Off

Ultimate Bundle

Everything in essential+
SelfDecode DNA Kit
Medication Check (PGx testing) for 50+ medications
40+ Family Planning (Carrier Status) Reports
Ancestry Percentages
Mitochondrial Ancestry

$894

$625

* SelfDecode DNA kits are non-refundable. If you choose to cancel your plan within 30 days you will not be refunded the cost of the kit.

We will never share your data

We follow HIPAA and GDPR policies

We have World-Class Encryption & Security

People Love Us

Rated 4.7/5 from 750+ reviews

People Trust Us

200,000+ users, 2,000+ doctors & 80+ businesses

SelfDecode is a personalized health report service, which enables users to obtain detailed information and reports based on their genome. SelfDecode strongly encourages those who use our service to consult and work with an experienced healthcare provider as our services are not to replace the relationship with a licensed doctor or regular medical screenings.

Policies

About

Support
Our Team
Affiliate Program
Privacy
Media