Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome

Human Reproduction

Volumn 21, Issue 4, 2006, Pages 943-951

  Gonzalez A ^a,b   Saez M E ^c   Aragon M J ^a   Galan J J ^c   Vettori, P ^a   Molina, L ^a   Rubio, C ^a   Real, L M ^c   Ruiz, Agustín ^c   Ramirez Lorca R ^c  

^a Instituto Médico Serman   (Spain)

^b Hospital Virgen de las Montañas de Villamartín   (Spain)

^c UNIVERSITY OF SEVILLE   (Spain)

Author keywords

Anovulation; CAPN5 gene; PCOS; SNP; Sterility

Indexed keywords

CALPAIN; CALPAIN 5; GENOMIC DNA; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CARDIOVASCULAR DISEASE; CASE CONTROL STUDY; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE ASSOCIATION; FAMILY HISTORY; FEMALE; GENE CLUSTER; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN TISSUE; HYPERTENSION; MAJOR CLINICAL STUDY; NON INSULIN DEPENDENT DIABETES MELLITUS; NUCLEOTIDE SEQUENCE; OBESITY; OVARY POLYCYSTIC DISEASE; PHENOTYPE; POPULATION DISTRIBUTION; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 33645295214     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/dei443     Document Type: Article

References (43)

1. Asteria C (2000) Identification of follistatin as a possible trait-causing gene in polycystic ovary syndrome. Eur J Endocrinol 143,467-469.
2. Asuncion M, Calvo RM, San Millan JL, Sancho J, Avila S and Escobar-Morreale HF (2000) A prospective study of the prevalence of the polycystic ovary syndrome in unselected Caucasian women from Spain. J Clin Endocrinol Metab 85,2434-2438.
3. Balen A (1999) Pathogenesis of polycystic ovary syndrome the enigma unravels? Lancet 3-53,966-967.
4. Barnes TM and Hodking J (1996) The tra-3 sex determination gene of Caenorhabditis elegans encodes a member of the calpain regulatory protease family. EMBO J 15 (17),4477-4484.
5. Buch B, Galan JJ, Lara M, Ruiz R, Segura C, Real LM, Martinez-Moya M and Ruiz A (2003) Scanning of Y-chromosome azoospermia factors loci using real-time polymerase chain reaction and melting curve analysis. Fertil Steril 80 (4),907-913.
6. Carey AH, Waterworth D, Patel K, White D, Little J, Novelli P, Franks S and Williamson R (1994) Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17. Hum Mol Genet 3,1873-1876.
7. Colilla S, Cox NJ and Ehrmann DA (2001) Heritability of insulin secretion and insulin action in women with polycystic ovary syndrome and their first degree relatives. J Clin Endocrinol Metab 86,2027-2031.
8. Crosignani PG and Nicolosi AE (2001) Polycystic ovarian disease: heritability and heterogeneity. Hum Reprod Update 7,3-7.
9. Dewailly D (1997) Definition and significance of polycystic ovaries. Baillieres Clin Obstet Gynaecol 11,349-368.
10. Eaves IA, Bennett ST, Forster P, Ferber KM, Ehrmann D, Wilson AJ, Bhattacharyya S, Ziegler AG, Brinkmann B and Todd JA (1999) Transmission ratio distortion at the INS-IGF2 VNTR. Nat Genet 22,324-325.
11. Ehrmann DA, Schwarz PE, Hara M, Tang X, Horikawa Y, Imperial J, Bell GI and Cox NJ (2002a) Relationship of calpain-10 genotype to phenotypic features of polycystic ovary syndrome. J Clin Endocrinol Metab 87,1669-1673.
12. Ehrmann DA, Tang X, Yoshiuchi I, Cox NJ and Bell GI (2002b) Relationship of insulin receptor substrate-1 and -2 genotypes to phenotypic features of polycystic ovary syndrome. J Clin Endocrinol Metab 87,4297-4300.
13. Escobar-Morreale HF, Peral B, Villuendas G, Calvo RM, Sancho J and San Millan JL (2002) Common single nucleotide polymorphisms in intron 3 of the calpain-10 gene influence hirsutism. Fertil Steril 77,581-587.
14. Evans JC, Frayling TM, Cassell PG, Saker PJ, Hitman GA, Walker M, Levy JC, O'Rahilly S, Rao PV, Bennett AJ et al. (2001) Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom. Am J Hum Genet 69,544-552.
15. Franks S (1995) Polycystic ovary syndrome. N Engl J Med 333,853-861.
16. Garant MJ, Kao WH, Brancati F, Coresh J, Rami TM, Hanis CL, Boerwinkle E and Shuldiner AR (2002) SNP43 of CAPN10 and the risk of type 2 diabetes in African-Americans: The Atherosclerosis Risk in Communities Study. Diabetes 51,231-237.
17. Gharani N, Waterworth DM, Batty S, White D, Gilling-Smith C, Conway GS, McCarthy M, Franks S and Williamson R (1997) Association of the steroid synthesis gene CYP11α with polycystic ovary syndrome and hyperandrogenism. Hum Mol Genet 6,397-402.
18. González A, Abril E, Roca A, Aragon MJ, Figueroa MJ, Velarde P, Royo JL, Real LM and Ruiz A (2002) CAPN10 alleles are associated with polycystic ovary syndrome. J Clin Endocrinol Metab 87,3971-3976.
19. González A, Abril E, Roca A, Aragon MJ, Figueroa MJ, Velarde P, Ruiz R, Fayez O, Galan JJ, Herreros JA et al. (2003) Specific CAPN10 gene haplotypes influence the clinical profile of polycystic ovary patients. J Clin Endocrinol Metab 88 (11),5529-5536.
20. Gonzalez-Gomez F, Vergara F, Fernandez A, Pedrosa C, Ramirez JP, Castilla JA, Ruiz R, Galan JJ, Ruiz A and Real LM (2003) Detection of pvull polymorphism within intron 1 of ESR1 gene by real-time PCR. Clin Chem Lab Med 41 (3),392-393.
21. Govind A, Obhrai MS and Clayton RN (1999) Polycystic ovaries are inherited as an autosomal dominant trait: Analysis of 29 polycystic ovary syndrome and 10 control families. J Clin Endocrinol Metab 84,38-43.
22. Hernandez ER, Hurwitz A, Vera A, Pellicer A, adashi EY, LeRoith D and Roberts CT Jr (1992) Expression of the genes encoding the insulin-like growth factors and their receptors in human ovary. J Clin Endocrinol Metab 74,419-425.
23. Homburg R (2002) What is polycystic ovarian syndrome? A proposal for a consensus on the definition and diagnosis of polycystic ovarian syndrome. Hum Reprod 17,2495-2499.
24. Horikawa Y, Oda N, Cox NJ, Li X, Orho-Melander M, Hara M, Hinokio Y, Lindner TH, Mashima H, Schwarz PE et al. (2000) Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat Genet 26,163-175.
25. Legro RS, Driscoll D, Strauss JF III, Fox J and Dunaif A (1998) Evidence for a genetic basis for hyperandrogenemia in polycystic ovary syndrome. Proc Natl Acad Sci USA 95,14956-14960.
26. Legro RS and Strauss JF (2002) Molecular progress in infertility: polycystic ovary syndrome. Fertil Steril 78,569-576.
27. Lewontin RC and Kojima K (1960) The evolutionary dynamics of complex polymorphisms. Evolution 14,450-472.
28. Lobo RA and Carmina E (2000) The importance of diagnosing the polycystic ovary syndrome. Ann Intern Med 132,989-993.
29. McKeigue P and Wild S (1997) Association of insulin gene VNTR polymorphism with polycystic ovary syndrome. Lancet 349,1771-1772.
30. Mroueh A and Kase N (1968) Olfactory-genital dysplasia. Am J Obstet Gynecol 15,100 (4),525-527.
31. Ono Y, Sorimachi H and Suzuki K (1998) Structure and physiology of calpain, an enigmatic protease. Biochem Biophys Res Commun 245,289-294.
32. Real LM, Gayoso AJ, Olivera M, Caruz A, Ruiz A and Gayoso F (2001) Detection of nucleotide c985 A→G mutation of medium-chain acyl-CoA dehydrogenase gene by real-time PCR. Clin Chem 47,958-959.
33. Sasieni PD (1997) From genotypes to genes: Doubling the sample size. Biometrics 53,1253-1261.
34. Solomon CG (1999) The epidemiology of polycystic ovary syndrome. Prevalence and associated disease risk. Endocrinol Metab Clin North Am 28,247-265.
35. Sorimachi H, Ishiura S and Suzuki K (1997) Structure and physiological function of calpains. Biochem J 328,721-732.
36. Suzuki H, Saido TC and Hirai S (1992) Modulation of cellular signals by calpain. Ann NY Acad Sci 674,218-227.
37. Talbot JA, Bicknell EJ, Rajkhowa M, Krook A, O'Rahilly S and Clayton RN (1996) Molecular scanning of the insulin receptor gene in women with polycystic ovarian syndrome. J Clin Endocrinol Metab 81,1979-1983.
38. Tregouet DA, Escolano S, Tiret L, Mallet A, Golmard JL (2004) A new algorithm for haplotype-based association analysis: The Stochastic-EM algorithm. Ann Hum Genet 68:165-167.
39. Urbanek M, Legro RS, Driscoll DA, Azziz R, Ehrmann DA, Norman RJ, Strauss JF, IIISpielman RS and Dunaif (1999) Thirty-seven candidate genes for polycystic ovary syndrome: Strongest evidence for linkage is with follistatin. Proc Natl Acad Sci USA 96,8573-8578.
40. Waghray A, Wang DS, McKinsey D, Hayes RL and Wang KK (2004) Molecular cloning and characterization of rat and human calpain-5. Biochem Biophys Res Commun 2004 (324),46-51.
41. Waterworth DM, Bennett ST, Gharani N, McCarthy MI, Hague S, Batty S, Conway GS, White D, Todd JA, Franks S et al. (1997) Linkage and association of insulin gene VNTR regulatory polymorphism with polycystic ovary syndrome. Lancet 349,986-990.
42. Weiss KM and Terwilliger JD (2000) How many diseases does it take to map a gene with SNPs? Nat Genet 26,151-157.
43. Zawadzky JK and Dunaif A (1992) Diagnostic criteria for polycystic ovary syndrome: Towards a rational approach. In Dunaif A, Givens JR, Haseltine F and Merrian GR (eds) Polycystic Ovary Syndrome. Blackwell, Boston, pp. 377-384.