Calpain 10 gene single-nucleotide 44 polymorphism may have been an influence on clinical and metabolic features in patients with polycystic ovary syndrome

Journal of Endocrinological Investigation

Volumn 32, Issue 1, 2009, Pages 13-17

  Yilmaz, Murartt ^a   Yurtcu E ^b   Demirci, H ^c   Ergun M A ^c   Ersoy, R ^c   Karakoc A ^c   Yetkin, I ^c   Cakir N ^c   Ayvaz, G ^c   Arslan, M ^c  

^a KIRIKKALE UNIVERSITY   (Turkey)

^b BASKENT UNIVERSITY   (Turkey)

^c GAZI UNIVERSITY   (Turkey)

Author keywords

Androgen; Calpain 10 gene; Hirsutismus; Insulin resistance; PCOS; PCR RFLP

Indexed keywords

ANDROSTENEDIONE; CALPAIN 10; PRASTERONE SULFATE; SEX HORMONE; TESTOSTERONE;

ADULT; ANDROSTENEDIONE BLOOD LEVEL; AREA UNDER THE CURVE; ARTICLE; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENOTYPE; HOMEOSTASIS; HORMONE BLOOD LEVEL; HUMAN; INSULIN BLOOD LEVEL; INSULIN RESISTANCE; INSULIN SENSITIVITY; MAJOR CLINICAL STUDY; ORAL GLUCOSE TOLERANCE TEST; OVARY POLYCYSTIC DISEASE; PATHOGENESIS; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM; TESTOSTERONE BLOOD LEVEL;

EID: 64549110731     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03345671     Document Type: Article

References (24)

1. Homburg R. What is polycystic ovarian syndrome? A proposal for a consensus on the definition and diagnosis of polycystic ovarian syndrome. Human Reprod 2002,17: 2495-9.
2. Dunaif A, Segal K, Futterweit W, Dobrjansky A. Profound peripheral insulin resistance, independent of obesity, in polycystic ovary syndrome. Diabetes 1989, 38: 1165-74.
3. Ehrmann DA, Barnes RB, Rosenfield RL, Cavaghan MK, Imperial J. Prevalance of impaired glucose tolerance and diabetes in women polycystic ovary syndrome. Diabetes Care 1999, 22: 141-6.
4. Wild S, Pierpoint T, McKeigue P, Jacobs H. Cardiovascular disease in women with polycystic ovary syndrome at long-term follow-up: a retrospective cohort study. Clin Endocrinol (Oxf) 2000, 52: 595-600.
5. Horikawa Y, Oda N, Cox NJ, et al. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat Genet 2000, 26: 163-75.
6. Evans JC, Frayling TM, Cassell PG, et al. Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom. Am J Hum Genet 2001, 69: 544-52.
7. Garant MJ, Kao WH, Brancati F, et al. SNP43 of CAPN10 and the risk of type 2 diabetes in African-Americans: the Atherosclerosis Risk in Communities Study. Diabetes 2002, 51: 231-7.
8. Weedon MN, Schwarz PE, Horikawa Y, et al. Meta-analysis and a large association study confirm a role for calpain 10 variation in type 2 diabetes susceptibility. Am J Hum Genet 2003, 73: 1208-12.
9. Gonzalez A, Abril E, Roca A, et al. Specific CAPN10 gene haplotypes influence the clinical profile of polycystic ovary syndrome. J Clinical Endocrinol Metab 2003, 88: 5529-36.
10. Gonzalez A, Abril E, Roca A, et al. CAPN10 alleles are associated with polycystic ovary syndrome. J Clin Endocrinol Metab 2002, 87: 3971-6.
11. Haddad L, Evans JC, Gharani N, et al. Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome. J Clin Endocrinol Metab 2002, 87: 2606-10.
12. Ehrmann DA, Schwarz PEH, Hara M, et al. Relationship of calpain-10 genotype to phenotypic features of polycystic ovary syndrome. J Clin Endocrinol Metab 2002, 87: 1669-73.
13. The Rotterdam ESHRE/ASRM-Sponsored PCOS consensus workshop group. Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome (PCOS). Hum Reprod 2004, 19: 41-7.
14. Ferriman D, Gallwey JD. Clinical assesment of body hair growth in women. J Clin Endocrinol Metab 1961, 21: 1440-7.
15. Genuth S, Alberti KG, Bennett P, et al; Expert Committee on the Diagnosis and Classification. Follow-up report on the diagnosis of diabetes mellitus. Diabetes Care 2003, 26: 3160-7.
16. Matthews DR, Hosker JP and Ruclenski AS. Homeostasis model assesssment: insulin resistance and beta-cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia 1985, 28: 412-9.
17. Katz A, Nambi SS, Mather K, et al. Quantitative insulin sensitivity check index: a simple, accurate method for assessing insulin sensitivity in humans. J Clin Endocrinol Metab 2000, 85: 2402-10.
18. Shima Y, Nakanishi K, Odawara M, Kobayashi T, Ohta H. Association of the SNP-19 genotype 22 in the calpain-10 gene with elevated body mass index and hemoglobin A1c levels in Japanese. Clin Chim Acta 2003, 336: 89-96.
19. Daimon M, Oizumi T, Saitoh T, et al. Calpain 10 gene polymorphisms are related, not to type 2 diabetes, but to increased serum cholesterol in Japanese. Diabetes Res Clin Pract 2002, 56: 147-52.
20. Orho-Melander M, Klannemark M, Svensson MK, Ridderstråle M, Lindgren CM, Groop L. Variants in the calpain-10 gene predispose to insulin resistance and elevated free fatty acid levels. Diabetes 2002, 51: 2658-64.
21. Malecki MT, Moczulski DK, Klupa T, et al, Homozygous combination of calpain 10 gene haplotypes is associated with type 2 diabetes mellitus in a Polish population. Eur J Endocrinol 2002, 146: 695-9.
22. Vollmert C, Hahn S, Lamina C, et al; the KORA group. Calpain-10 variants and haplotypes are associated with polycystic ovary syndrome in Caucasians. Am J Physiol Endocrinol Metab 2007, 292: E836-44.
23. Wiltgen D, Furtado L, Kohek MB, Spritzer PM. CAPN10 UCSNP-43, UCSNP-19 and UCSNP-63 polymorphisms and metabolic syndrome in polycystic ovary syndrome. Gynecol Endocrinol 2007, 23: 173-8.
24. Escobar-Morreale HF, Peral B, Villuenclas G, Calvo RM, Sancho J, San Millán. Common singie nucleotide polymorphisms in intron 3 of the calpain-10 gene influence hirsutism. Fertil Steril 2002, 77: 581-7.