The role of genetic variation in the lamin A/C gene in the etiology of polycystic ovary syndrome

Journal of Clinical Endocrinology and Metabolism

Volumn 94, Issue 7, 2009, Pages 2665-2669

  Urbanek, Margrit ^a   Nampiaparampil, Geetha ^a   D'Souza, Janine ^a   Sefton, Elizabeth ^a   Ackerman, Christine ^a   Legro, Richard S ^b   Dunaif, Andrea ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

^b PENN STATE COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE; INSULIN; LAMIN A; LAMIN C; LOW DENSITY LIPOPROTEIN; PRASTERONE SULFATE; TESTOSTERONE; TRIACYLGLYCEROL;

ADOLESCENT; ADULT; ARTICLE; BODY MASS; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; EUROPE; EXON; FEMALE; GENE; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; HYPERANDROGENISM; HYPOTHESIS; INSULIN RESISTANCE; LAMIN AC GENE; METABOLIC SYNDROME X; OBESITY; OVARY POLYCYSTIC DISEASE; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; QUANTITATIVE TRAIT; SINGLE NUCLEOTIDE POLYMORPHISM; WAIST CIRCUMFERENCE;

EID: 67650245558     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2008-2704     Document Type: Article

References (29)

1. Sam S, Dunaif A 2003 Polycystic ovary syndrome: syndrome XX? Trends Endocrinol Metab 14:365-370
2. Vink J, Sadrzadeh SM, Lambalk CB, Boomsma DI 2006 Heritability of polycystic ovary syndrome (PCOS) in a Dutch twin-family study. J Clin Endocrinol Metab 91:2100-2104
3. Legro RS, Driscoll D, Strauss 3rd JF, Fox J, Dunaif A 1998 Evidence for a genetic basis for hyperandrogenemia in polycystic ovary syndrome. Proc Natl Acad Sci USA 95:14956-14960
4. Hegele RA, Cao H, Frankowski C, Mathews ST, Leff T 2002 PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. Diabetes 51:3586-3590
5. Agarwal AK, Garg A 2002 A novel heterozygous mutation in peroxisome proliferator-activated receptor-γ gene in a patient with familial partial lipodystrophy. J Clin Endocrinol Metab 87:408-411
6. Altshuler D, Hirschhorn JN, Klannemark M, Lindgren CM, Vohl MC, Nemesh J, Lane CR, Schaffner SF, Bolk S, Brewer C, Tuomi T, Gaudet D, Hudson TJ, Daly M, Groop L, Lander ES 2000 The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet 26:76-80
7. Monajemi H, Stroes E, Hegele RA, Fliers E 2007 Inherited lipodystrophies and the metabolic syndrome. Clin Endocrinol (Oxf) 67:479-484
8. Antoine HJ, Pall M, Trader BC, Chen YD, Azziz R, Goodarzi MO 2007 Genetic variants in peroxisome proliferator-activated receptor γ influence insulin resistance and testosterone levels in normal women, but not those with polycystic ovary syndrome. Fertil Steril 87:862-869
9. Hahn S, Fingerhut A, Khomtsiv U, Khomtsiv L, Tan S, Quadbeck B, Herrmann BL, Knebel B, Mèuller-Wieland D, Mann K, Janssen OE 2005 The peroxisome proliferator activated receptor γ Pro12Ala polymorphism is associated with a lower hirsutism score and increased insulin sensitivity in women with polycystic ovary syndrome. Clin Endocrinol (Oxf) 62:573-579
10. Worman HJ, Bonne G 2007 "Laminopathies": a wide spectrum of human diseases. Exp Cell Res 313:2121-2133
11. Young J, Morbois-Trabut L, Couzinet B, Lascols O, Dion E, Bâerâeziat V, Fáeve B, Richard I, Capeau J, Chanson P, Vigouroux C 2005 Type A insulin resistance syndrome revealing a novel lamin A mutation. Diabetes 54:1873-1878
12. Urbanek M, Legro RS, Driscoll DA, Azziz R, Ehrmann DA, Norman RJ, Strauss 3rd JF, Spielman RS, Dunaif A 1999 Thirty-seven candidate genes for polycystic ovary syndrome: strongest evidence for linkage is with follistatin. Proc Natl Acad Sci USA 96:8573-8578
13. Zawadski JK, Dunaif A 1992 Diagnostic criteria for polycystic ovary syndrome. In: Givens J, Haseltine F, Merriman G, eds. The polycystic ovary syndrome. Cambridge, MA: Blackwell Scientific; 377-384
14. 2004 Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome (PCOS). Hum Reprod 19:41-47
15. Azziz R, Carmina E, Dewailly D, Diamanti-Kandarakis E, Escobar-Morreale HF, Futterweit W, Janssen OE, Legro RS, Norman RJ, Taylor AE, Witchel SF 2006 Positions statement: criteria for defining polycystic ovary syndrome as a predominantly hyperandrogenic syndrome: an Androgen Excess Society guideline. J Clin Endocrinol Metab 91:4237-4245
16. Urbanek M, Sam S, Legro RS, Dunaif A 2007 Identification of a polycystic ovary syndrome susceptibility variant in fibrillin-3 and association with a metabolic phenotype. J Clin Endocrinol Metabol 92:4191-4198
17. Sam S, Legro RS, Essah PA, Apridonidze T, Dunaif A 2006 Evidence for metabolic and reproductive phenotypes in mothers of women with polycystic ovary syndrome. Proc Nat Acad Sci USA 103:7030-7035
18. Sam S, Legro RS, Bentley-Lewis R, Dunaif A 2005 Dyslipidemia and metabolic syndrome in the sisters of women with polycystic ovary syndrome. J Clin Endocrinol Metab 90:4797-4802
19. Wellcome Trust Case Control Consortium 2007 Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447:661-678
20. McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, Ioannidis JP, Hirschhorn JN 2008 Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 9:356-369
21. Legro RS, Finegood D, Dunaif A 1998 A fasting glucose to insulin ratio is a useful measure of insulin sensitivity in women with polycystic ovary syndrome. J Clin Endocrinol Metab 83:2694-2698
22. Grundy SM, Cleeman JI, Daniels SR, Donato KA, Eckel RH, Franklin BA, Gordon DJ, Krauss RM, Savage PJ, Smith Jr SC, Spertus JA, Costa F 2005 Diagnosis and management of the metabolic syndrome: an American Heart Association/National Heart, Lung, and Blood Institute Scientific Statement. Circulation 112:2735-2752
23. Purcell S, Cherny SS, Sham PC 2003 Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics (Oxford, England) 19:149-150
24. Skol AD, Scott LJ, Abecasis GR, Boehnke M 2007 Optimal designs for two-stage genome-wide association studies. Genetic Epidemiol 31:776-788
25. Barrett JC, Fry B, Maller J, Daly MJ 2005 Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263-265
26. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC 2007 PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81:559-575
27. Decaudain A, Vantyghem MC, Guerci B, Hâecart AC, Auclair M, Reznik Y, Narbonne H, Ducluzeau PH, Donadille B, Lebbâe C, Bâerâeziat V, Capeau J, Lascols O, Vigouroux C 2007 New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome. J Clin Endocrinol Metab 92:4835-4844
28. Agarwal AK, Garg A 2006 Genetic basis of lipodystrophies and management of metabolic complications. Ann Rev Med 57:297-311
29. Gambineri A, Semple RK, Forlani G, Genghini S, Grassi I, Hyden CS, Pagotto U, O'Rahilly S, Pasquali R 2008 Monogenic polycystic ovary syndrome due to a mutation in the lamin a/c gene is sensitive to thiazolidinediones but not to metformin. Eur J Endocrinol 159:347-353