rs727428

This is a regulatory region variant variant.

▶

GWAS Catalog Trait Associations (16)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

testosterone measurement

Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele T
OR 0.09
p 8.0e-309
N 188,507
Large GWAS
European
Harrison S et al. “Testosterone and socioeconomic position: Mendelian randomization in 306,248 men and women in UK Biobank.” Science Advances 7(31) (2021)
Allele T
OR —
β 0.000
p 5.0e-21
N 36,203
Major Consortium StudyLarge GWAS
European
Pagadala MS et al. “Discovery of novel ancestry specific genes for androgens and hypogonadism in Million Veteran Program Men.” Nature Communications 16(1):4104 (2025)
Allele T
OR 0.11
p 2.0e-34
N 27,521
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean
Jin G et al. “Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men.” Human Molecular Genetics 21(23):5222-8 (2012)
Allele T
OR 0.07
p 1.0e-12
N 3,225
Large GWAS
European

sex hormone-binding globulin measurement

Harrison S et al. “Testosterone and socioeconomic position: Mendelian randomization in 306,248 men and women in UK Biobank.” Science Advances 7(31) (2021)
Allele C
OR 7.25
p 5.0e-109
N 36,203
Major Consortium StudyLarge GWAS
European
Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele C
OR 0.22
p 2.0e-16
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
Prescott J et al. “Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.” Plos One 7(6):e37815 (2012)
Allele C
OR 0.13
p 2.0e-16
N 1,598
Large GWAS
European

hemoglobin A1 measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.02
p 2.0e-32
N 415,403
Large GWAS
multi-ancestry

hypogonadism

Pagadala MS et al. “Discovery of novel ancestry specific genes for androgens and hypogonadism in Million Veteran Program Men.” Nature Communications 16(1):4104 (2025)
Allele C
OR 0.18
p 9.0e-23
N 27,736
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

BMI-adjusted waist-hip ratio

Lotta LA et al. “Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.” Jama 320(24):2553-2563 (2018)
Allele T
OR 0.02
p 2.0e-18
N 660,648
Large GWAS
European
Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)
Allele T
OR 0.02
p 4.0e-18
N 379,501
Meta-analysisLarge GWAS
European
Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele T
OR 0.02
p 4.0e-16
N 219,872
Major Consortium StudyLarge GWAS
European

cholesterol to total lipids in large HDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 4.0e-18
N 450,015
Large GWAS
multi-ancestry

cholesteryl esters to total lipids in large HDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 2.0e-17
N 450,015
Large GWAS
multi-ancestry

HbA1c measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.02
p 2.0e-12
N 491,836
Major Consortium StudyLarge GWAS
multi-ancestry

dihydrotestosterone measurement

Jin G et al. “Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men.” Human Molecular Genetics 21(23):5222-8 (2012)
Allele T
OR 0.10
p 1.0e-11
N 3,225
Large GWAS
European

triglyceride measurement

Klarin D et al. “Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.” Nature Genetics 50(11):1514-1523 (2018)
Allele T
OR 0.02
p 1.0e-11
N 297,626
Major Consortium StudyLarge GWAS
multi-ancestry
▶

Research that mentions this SNP (1)

▶
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
AssociationN=478Yang Liu et al.(2019)· Journal of Cellular Biochemistry

This case-control study investigated the association of SHBG polymorphisms with polycystic ovary syndrome (PCOS) and IVF-ET outcomes in 261 PCOS patients and 217 controls. SHBG rs6259 GA+AA genotypes showed significantly reduced SHBG protein levels (P<0.05) and were associated with increased PCOS risk (OR=1.734, 95% CI: 1.200-2.505). The rs6259 A allele was a risk factor for PCOS (OR=1.600, 95% CI: 1.184-2.162, P=0.002). rs6259 GA+AA carriers had lower retrieved oocyte and embryo numbers, reduced fertility rates, and elevated abortion rates and OHSS incidence compared to GG carriers.

Traits studied:In vitro fertilization-embryo transfer (IVF-ET) outcomeOvarian hyperstimulation syndrome (OHSS)Polycystic ovary syndrome (PCOS)
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…