rs727428
| Orientation | minus |
| Stabilized | minus |
| Make rs727428(A;A) |
| Make rs727428(A;G) |
| Make rs727428(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 7634474 |
| Gene | SHBG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs727428 |
| dbSNP (classic) | rs727428 |
| ClinGen | rs727428 |
| ebi | rs727428 |
| HLI | rs727428 |
| Exac | rs727428 |
| Gnomad | rs727428 |
| Varsome | rs727428 |
| LitVar | rs727428 |
| Map | rs727428 |
| PheGenI | rs727428 |
| Biobank | rs727428 |
| 1000 genomes | rs727428 |
| hgdp | rs727428 |
| ensembl | rs727428 |
| geneview | rs727428 |
| scholar | rs727428 |
| rs727428 | |
| pharmgkb | rs727428 |
| gwascentral | rs727428 |
| openSNP | rs727428 |
| 23andMe | rs727428 |
| SNPshot | rs727428 |
| SNPdbe | rs727428 |
| MSV3d | rs727428 |
| GWAS Ctlg | rs727428 |
| GMAF | 0.4646 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs727428 is a SNP in the sex-hormone binding globulin SHBG gene. SHBG binds steroid hormones, mostly testosterone and estradiol, rendering them biologically unavailable.
[PMID 21252242
] Based on a study of 758 women in 430 families, rs727428 is associated with levels of that sex-hormone binding globulin hormone, independent of the effects of insulin resistance and obesity. Specifically, levels of SHBG were decreased approximately 13% in (A;G) heterozygotes and 27% in (A;A) homozygotes compared with (G;G) homozygotes. [Note: designation of alleles is as shown in dbSNP.]
[PMID 19064566] Haplotype analysis suggested that rs858518, rs727428, or a variant in linkage disequilibrium with them acts to decrease SHBG levels but that this effect is neutralized by rs6259.
This SNP was previously associated with risk of type 2 diabetes mellitus.
[PMID 22675492] Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women
[PMID 12466288] Haplotype and linkage disequilibrium architecture for human cancer-associated genes.
[PMID 17411440] Ovarian cancer risk and common variation in the sex hormone-binding globulin gene: a population-based case-control study.
| GWAS snp | |
|---|---|
| PMID | [PMID 22936694]
|
| Trait | Androgen levels |
| Title | Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men. |
| Risk Allele | T |
| P-val | 1E-12 |
| Odds Ratio | .07 [0.053-0.093] unit decrease |
[PMID 23001781] Common variants in the sex hormone-binding globulin gene (SHBG) and polycystic ovary syndrome (PCOS) in Mediterranean women.
[PMID 26602056] The rs5934505 single nucleotide polymorphism (SNP) is associated with low testosterone and late-onset hypogonadism, but the rs10822184 SNP is associated with overweight and obesity in a Chinese Han population: a case-control study
[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.
