Phosphatidylinositol 3-kinase p85α regulatory subunit gene Met326Ile polymorphism in women with polycystic ovary syndrome

Human Reproduction

Volumn 24, Issue 5, 2009, Pages 1184-1190

  Kim, Jin Ju ^a,b   Choi, Young Min ^a   Hong, Min A ^a   Hwang, Seung Sik ^c   Yoon, Sang Ho ^d   Chae, Soo Jin ^e   Jee, Byung Chul ^a   Ku, Seung Yup ^a   Kim, Jung Gu ^a   Moon, Shin Yong ^a  

^a Seoul National University   (South Korea)

^b Seoul National University Hospital Healthcare System Gangnam Center   (South Korea)

^c Inha University School of Medicine   (South Korea)

^d Dongguk University Ilsan Hospital   (South Korea)

^e Maria Infertility Hospital   (South Korea)

Author keywords

Hyperinsulinemia; Met326Ile polymorphism; Phosphatidylinositol 3 kinase; Polycystic ovary syndrome

Indexed keywords

DNA; HYDROXYPROGESTERONE; ISOLEUCINE; METHIONINE; PHOSPHATIDYLINOSITOL 3 KINASE; PROTEIN P85ALPHA; PROTEIN SUBUNIT; TESTOSTERONE; UNCLASSIFIED DRUG;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; OVARY POLYCYSTIC DISEASE; PROGESTERONE BLOOD LEVEL; REGULATOR GENE; TESTOSTERONE BLOOD LEVEL;

EID: 67449128162     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/dep019     Document Type: Article

References (31)

1. Algenstaedt P, Hennigs N, Telkamp N, Schwarzloh B, Kausch C, Matthaei S, Hansen Algenstaedt N, Greten H. Met326lle amino acid polymorphism in the human p85 alpha gene has no major impact on early insulin signaling In type 2 diabetes. Horm Metab Res 2004; 36:686-692.
2. Almind K, Delahaye L, Hansen T, Van Obberghen E, Pedersen O, Kahn CR. Characterization of the Met326lle variant of phosphatidylinositol 3-kinase p85alpha. Proc Natl Acad Sci USA 2002; 99:2124-2128.
3. Anai M, Funaki M, Ogihara T, Terasaki J, inukal K, Katagiri H, Fukushima Y, Yazaki Y, Kikuchi M, Oka Y et al. Altered expression levels and impaired steps In the pathway to phosphatidylinositol 3 kinase activation via insulin receptor substrates I and 2 In Zucker fatty rats. Diabetes 1998:47:13 23.
4. Asuncion M, Calvo RM, San Millan JL, Sancho J, Avila S, Escobar Morreale HF. A prospective study of the prevalence of the polycystic ovary syndrome in unselected Caucasian women from Spain. J ClIn Endocrinol Metab 2000;85:2434-2438.
5. Baier LJ, Wiedrich C, Hanson RL, Bogardus C. Variant in the regulatory subunit of phosphatidylinositol 3-kinase (p85alpha): preliminary evidence indicates a potential role of this variant in the acute insulin response and type 2 diabetes In Pima women. Diabetes 1998; 47:973-975.
6. Balen AH, Laven JS, Tan SL, Dewailly D. Ultrasound assessment of the polycystic ovary: international consensus definitions. Hum Reprod Update 2003;9:505-514.
7. Bloom MS, Schisterman EF, Hediger ML. The use and misuse of matching in case control studies: the example of polycystic ovary syndrome. Fertil Steril 2007:88:707-710.
8. Chae SJ, Kim JJ, Choi YM, Hwang KR, Jee BC, Ku SY, Suh CS, Kim SH, Kim JG, Moon SY. Clinical and biochemical characteristics of polycystic ovary syndrome in Korean women. Hum Reprod 2008; 23:24-1931.
9. Chen S, Yan W, Huang J, Ge D, Yao Z, Gu D. Association analysis of the variant in the regulatory subunit of phosphoinositide 3-kinase (p85alpha) with Type 2 diabetes mellitus and hypertension In the Chinese Han population. Drobet Med 2005:22:737 743.
10. Ciaraldi TP, el Roely A, Madar Z, Reichart D, Olefsky JM, Yen SS. Cellular mechanisms of insulin resistance in polycystic ovarian syndrome. J Clin Endocrinol Metab 1992:75:577 -583.
11. Corbould A, Kim YB, Youngren JF, Pender C, Kahn BB, Lee A, Dunaif A. insulin resistance In the skeletal muscle of women with PCOS involves iIntrinsic and acquired defects In insulin signaling. Am J Physiol Endocrinol Metab 2005;288:E1047-El 054.
12. Diamanti-Kandarakis E, Papavassillou AG. Molecular mechanisms of insulin resistance In polycystic ovary syndrome. Trends Mol Med 2006;12:324-332.
13. Dunaif A, Xia J, Book CB, Schenker E, Tang Z. Excessive insulin receptor serine phosphorylation in cultured fibroblasts and in skeletal muscle. A potential mechanism for insulin resistance in the polycystic ovary syndrome. J Clin Invest 1995;96:801 810.
14. Dunaif A, Wu X, Lee A, Diamanti Kandarakis E. Defects in insulin receptor signaling in vivo In the polycystic ovary syndrome (PCOS). AmJ Physiol Endocrinol Metab 2001;281 :E392 -E399.
15. Fruman DA, Meyers RE, Cantley LC. Phosphoinositide kinases. Annu Rev Biochem 1998;67:481-507.
16. Giovannone B, Scaldaferri ML, Federia M, Porzio O, Lauro D, Fusco A, Sbraccia P, Borboni P, Lauro R, Sesti G. Insulin receptor substrate (1RS) transduction system: distinct and overlapping signaling potential. Diabetes Metab Res Rev 2000;16:434-441.
17. Hansen T, Andersen CB, Echwald SM, Urhammer SA, Clausen JO, Vestergaard H, Owens D, Hansen L, Pedersen O. Identification of a common amino acid polymorphism In the p85alpha regulatory subunit of phosphatidylinositol 3 kinase: effects on glucose disappearance constant, glucose effectiveness, and the insulin sensitivity index. Diabetes 1997;46:494-501.
18. Hansen L, Zethelius B, Berglund L, Reneland R, Hansen T, Berne C, Lithell H, Hemmings BA, Pedersen O. In vitro and in vivo studies of a naturally occurring variant of the human p85alpha regulatory subunit of the phosphoinositide 3-kinase: inhibition of protein kinase B and relationships with type 2 diabetes, insulin secretion, glucose disappearance constant, and insulin sensitivity. Diabetes 2001:50:690-693.
19. Hatch R, Rosenfield RL, Kim MH, Tredway D. Hirsutism: implications, etiology, and management. Am J Obstet Gynecol 1981;140:815 830.
20. Jones MR, Wilson SG, Mullin BH, Mead R, Dudbridge F, Watts GF, Stuckey BG. Polymorphism in postinsuit receptor signaling pathway is not associated with polycystic ovary syndrome. Fertil Steril 2008; 90:2298-2303.
21. Kawanishi M, Tamori Y, Masugi J, Mori H, Ito C, Hansen T, Andersen CB, Pedersen O, Kasuga M. Prevalence of a polymorphism of the phosphatidylinositol 3-kinase p85 alpha regulatory subunit (codon 326 Met->lle) in Japanese NIDDM patients. Diabetes Care 1997:20:1043.
22. Kerouz NJ, Horsch D, Pons S, Kahn CR. Differential regulation of insulin receptor substrates-1 and -2 (IRS-I and IRS-2) and phosphatidylinositol 3-kinase isoforms In liver and muscle of the obese diabetic (ob/ob) mouse. J Clin Invest 1997;100:3164-3172.
23. Knochenhauer ES, Key TJ, Kahsar Miller M, Waggoner W, Boots LR, Azziz R. Prevalence of the polycystic ovary syndrome In unselected black and white women of the southeastern United States: a prospective study. J Clin Endocrinol Metab 1998:83:3078 -3082.
24. Laukkanen O, Pihlajamaki J, Lindstrom J, Eriksson J, ValleTT, Hamalainen H, lianne-Parikka P, Keinanen-Kiukaanniemi S, Tuomilehto J, Uusitupa M et al. Common polymorphisms in the genes regulating the early insulin signaling pathway: effects on weight change and the conversion from impaired glucose tolerance to Type 2 diabetes. The Finnish Diabetes Prevention Study. Dlabetologia 2004;47:871-877.
25. Li M, Youngren JF, Dunaif A, Goldfine ID, Maddux BA, Zhang BB, Evans JL. Decreased insulin receptor (IR) autophosphorylatlon in fibroblasts from patients with PCOS: effects of serine kinase inhibitors and IR activators. J Clin Endocrinol Metab 2002:87:4088 4093.
26. Mauvais Jarvis F, Ueki K, Fruman DA, Hirshman MF, Sakamoto K, Goodyear LJ, lannacone M, Accili D, Cantley LC, Kahn CR. Reduced expression of the murine p85alpha subunlt of phosphoinositide 3 kinase improves insulin signaling and ameliorates diabetes. J Clin Invest 2002:109:141 -149.
27. Munir I, Yen HW, Geiler DH, Torbati D, Bierden RM, Weitsman SR, Agarwal SK, Magoffin DA. Insulin augmentation of 17alpha-hydroxylase activity is mediated by phosphatidyl inositol 3-kinase but not extracellular signal-regulated kinase-1 /2 in human ovarian theca cells. Endocrinology 2004:145:175- 183.
28. Seow KM, Juan CC, Hsu YP, Hwang JL, Huang LW, Ho LT. Amelioration of insulin resistance In women with PCOS via reduced insulin receptor substrate-1 Ser3 12 phosphorylation following laparoscopic ovarian electrocautery. Hum Reprod 2007;22:1003-1010.
29. Terauchi Y, Tsuji Y, Satoh S, Minoura H, Murakami K, Okuno A, inukai K, Asano T, Kaburagi Y, Ueki K et al. Increased insulin sensitivity and hypoglycemia in mice lacking the p85 alpha subunit of hosphoinositide 3 kinase. Nat Genet 1999;21:230-235.
30. Ueki K, Algenstaedt P, Mauvais Jarvis F, Kahn CR. Positive and negative regulation of phosphoinositide 3 kinase dependent signaling pathways by three different gene products of the p85alpha regulatory subunit. Mol Cell Biol 2000:20:8035-8046.
31. Vlrkamakl A, Ueki K, Kahn CR. Protein-protein interaction In insulin signaling and the molecular mechanisms of insulin resistance. J Clin invest 1999;103:931-943.