PCOS in 2015: New insights into the genetics of polycystic ovary syndrome

Nature Reviews Endocrinology

Volumn 12, Issue 2, 2016, Pages 74-

  Azziz, Ricardo ^a  

^a MEDICAL COLLEGE OF GEORGIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN; ARL14 EFFECTOR PROTEIN; ARL14EP PROTEIN; DENND1A PROTEIN; EPIDERMAL GROWTH FACTOR RECEPTOR 4; FDFT1 PROTEIN; FOLLITROPIN; FSHB PROTEIN; FSHR PROTEIN; GONADOTROPIN; GONADOTROPIN RECEPTOR; INSULIN; INSULIN RECEPTOR; KRR1 PROTEIN; LHCGR PROTEIN; LUTEINIZING HORMONE; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; PROTEIN; RAB5B PROTEIN; RAD50 PROTEIN; SEX HORMONE BINDING GLOBULIN; SQUALENE SYNTHASE; SUOX PROTEIN; THADA PROTEIN; TRANSCRIPTION FACTOR GATA 4; TRANSCRIPTION FACTOR YAP1; UNCLASSIFIED DRUG; EGFR PROTEIN, HUMAN; EPIDERMAL GROWTH FACTOR RECEPTOR; FOLLITROPIN BETA SUBUNIT; INSR PROTEIN, HUMAN; LEUKOCYTE ANTIGEN; LUTEINIZING HORMONE RECEPTOR;

ALLELE; ANDROGEN RELEASE; ANDROGEN SYNTHESIS; BODY MASS; DNA METHYLATION; EPIGENETICS; FEMALE; FEMALE SUBFERTILITY; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENETICS; HERITABILITY; HUMAN; IMMUNOHISTOCHEMISTRY; INSULIN RESISTANCE; MENOPAUSE; MONOZYGOTIC TWINS; OBESITY; OPEN READING FRAME; OVARY POLYCYSTIC DISEASE; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; BIOSYNTHESIS; COMPLICATION; EVOLUTION; GENETIC PREDISPOSITION; GENOME-WIDE ASSOCIATION STUDY; METABOLISM; OVARY; SUBCUTANEOUS FAT;

ANDROGENS; ANTIGENS, CD; BIOLOGICAL EVOLUTION; FEMALE; FOLLICLE STIMULATING HORMONE, BETA SUBUNIT; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INSULIN; LUTEINIZING HORMONE; OBESITY; OVARY; POLYCYSTIC OVARY SYNDROME; RECEPTOR, EPIDERMAL GROWTH FACTOR; RECEPTOR, INSULIN; RECEPTORS, LH; SUBCUTANEOUS FAT;

EID: 84955180893     PISSN: 17595029     EISSN: 17595037     Source Type: Journal    
DOI: 10.1038/nrendo.2015.230     Document Type: Review

References (10)

1. Zawadski, J. K. & Dunaif, A. in Polycystic Ovay Syndrome (eds Dunaif, A. et al.) 377-384 (Blackwell Scientific, 1992).
2. Hayes, M. G. et al. Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations. Nat. Commun. 6, 7502 (2015).
3. Chen, Z. J. et al. Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3. Nat. Genet. 43, 55-59 (2011).
4. Shi, Y. et al. Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. Nat. Genet. 44, 1020-1025 (2012).
5. Day, F. R. et al. Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome. Nat. Commun. 6, 8464 (2015).
6. Jones, M. R. et al. Systems genetics reveals the functional context of PCOS loci and identifies genetic and molecular mechanisms of disease heterogeneity. PLoS Genet. 11, e1005455 (2015).
7. McAllister, J. M. et al. Overexpression of a DENND1A isoform produces a polycystic ovary syndrome theca phenotype. Proc. Natl Acad. Sci. USA 111, E1519-E1527 (2014).
8. Goodarzi, M. O. et al. Replication of association of DENND1A and THADA variants with polycystic ovary syndrome in European cohorts. J. Med. Genet. 49, 90-95 (2012).
9. Hardy, J. & Singleton, A. Genomewide association studies and human disease. N. Engl. J. Med. 360, 1759-1768 (2009).
10. Vink, J. M., Sadrzadeh, S., Lambalk, C. B. & Boomsma, D. I. Heritability of polycystic ovary syndrome in a Dutch twin-family study. J. Clin. Endocrinol. Metab. 91, 2100-2104 (2006).