Table 1.
A Selection of Endocrine Traits and Diseases From the NHGRI Catalog of Published Genome-Wide Association Studies
| Trait and Diseases | No. of Publications | No. of Associationsa | Top Locus by Effect Sizeb | Recognizable Nearby Genesc |
|---|---|---|---|---|
| 25-Hydroxyvitamin D levels | 6 | 12 | GC | CYP2R1, DHCR7, GC |
| Adiponectin | 13 | 34 | ADIPOQ | ADIPOQ, VEGFA |
| Calcium levels | 3 | 10 | CASR | CASR |
| Dehydroepiandrosterone sulfate levels | 1 | 8 | ZKSCAN5 | SULT2A1 |
| Estradiol levels | 5 | 4 | TSPYL5 | CYP19A1, SHBG |
| FSH | 2 | 2 | CYP19A1 | CYP19A1 |
| Graves' disease | 4 | 22 | HLA-B | ABO, HLA-B, CTLA4, MHC, TG, TSHR |
| Hypothyroidism | 2 | 6 | PHTF1 | HLA-C/HLA-B |
| Menopause (age of onset) | 9 | 29 | MCM8 | |
| PCOS | 3 | 16 | DENND1A | LHCGR, FSHR, INSR |
| Testosterone levels | 4 | 6 | SHBG | SHBG |
| Thyroid cancer | 4 | 8 | MBIP | |
| Thyroid peroxidase antibody levels or positivity | 5 | 7 | TPO (positivity), MAGI3 (levels) | TPO |
| TSH levels | 8 | 43 | PDE8B | DIO1 |
| T1D | 10 | 66 | HLA-DRB1 | CTLA4, HLA-DRB1, INS, IL10, IL2RA, MHC |
| T2D | 48 | 188 | TCF7L2 | HNF1A, HNF4A, HNF1B, IDE, INS-IGF2, IGF2BP2, IRS1, KCNJ11, MC4R, PPARG, WFS1 |
Total number of associations significant at P < 5 × 10−8. The number of independent associations will be lower after considering linkage disequilibrium.
Top locus determined by examining odds ratio or beta-coefficient, as listed in the database. Note that some entries do not have a listed effect size.
Gene names that an endocrinologist might recognize based on potential relevance to the associated trait. This subjective list reflects the author's opinion. The number of recognizable genes is generally a small proportion of the total associations. Gene names are assigned by proximity to each associated SNP. GC, group-specific component (vitamin D binding protein); CYP2R1, cytochrome P450, family 2, subfamily R, polypeptide 1 (vitamin D 25-hydroxylase); DHCR7, 7-dehydrocholesterol reductase; ADIPOQ, adiponectin; VEGFA, vascular endothelial growth factor A; CASR, calcium-sensing receptor; ZKSCAN5, zinc finger with KRAB and SCAN domains 5; SULT2A1, sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1; TSPYL5, TSPY-like 5; CYP19A1, cytochrome P450, family 19, subfamily A, polypeptide 1 (aromatase); SHBG, sex hormone-binding globulin; HLA-B, major histocompatibility complex, class I, B; ABO, ABO blood group; CTLA4, cytotoxic T-lymphocyte-associated protein 4; MHC, major histocompatibility complex; TG, thyroglobulin; TSHR, thyroid hormone stimulating receptor; PHTF1, putative homeodomain transcription factor 1; HLA-C, major histocompatibility complex, class I, C; MCM8, minichromosome maintenance 8 homologous recombination repair factor; DENND1A, DENN/MADD domain containing 1A; LHCGR, luteinizing hormone/choriogonadotropin receptor; FSHR, follicle stimulating hormone receptor; INSR, insulin receptor; MBIP, MAP3K12 binding inhibitory protein 1; TPO, thyroid peroxidase; MAGI3, membrane associated guanylate kinase, WW and PDZ domain containing 3; PDE8B, phosphodiesterase 8B; DIO1, deiodinase, iodothyronine, type I; HLA-DRB1, major histocompatibility complex, class II, DR beta 1; INS, insulin; IL10, interleukin 10; IL2RA, interleukin 2 receptor, α TCF7L2, transcription factor 7-like 2; HNF1A, HNF1 homeobox A; HNF4A, hepatocyte nuclear factor 4, alpha; HNF1B, HNF1 homeobox B; IDE, insulin degrading enzyme; IGF2, insulin-like growth factor 2; IGF2BP2, insulin-like growth factor 2 mRNA binding protein 2; IRS1, insulin receptor substrate 1; KCNJ11, potassium channel, inwardly rectifying subfamily J, member 11; MC4R, melanocortin 4 receptor; PPARG, peroxisome proliferator-activated receptor γ; WFS1, Wolfram syndrome 1 (wolframin).