Evaluation of the association between GHR exon 3 polymorphism and polycystic ovary syndrome among Han Chinese women

Growth Hormone and IGF Research

Volumn 21, Issue 5, 2011, Pages 248-251

  Shen, Yun ^a,c   Wang, Laicheng ^a   Zhao, Yueran ^a   You, Li ^a   Geng, Ling ^a   Gu, Harvest F ^b   Chen, Zi Jiang ^a  

^a SHANDONG PROVINCIAL HOSPITAL AFFILIATED TO SHANDONG UNIVERSITY   (China)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

Author keywords

Exon 3 polymorphism; Growth hormone receptor; Polycystic ovary syndrome

Indexed keywords

GLUCOSE; GROWTH HORMONE RECEPTOR;

ADULT; AGAR GEL ELECTROPHORESIS; ANTHROPOMETRIC PARAMETERS; ARTICLE; CHINESE; CLINICAL PROTOCOL; CONTROLLED STUDY; DNA SEQUENCE; EXON; FEMALE; GENE; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENOTYPE; GLUCOSE BLOOD LEVEL; GLUCOSE METABOLISM; GROWTH HORMONE RECEPTOR D3 GENE; HIP CIRCUMFERENCE; HUMAN; INSULIN RESISTANCE; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; OVARY POLYCYSTIC DISEASE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; WAIST CIRCUMFERENCE;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BLOOD GLUCOSE; CASE-CONTROL STUDIES; EXONS; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; POLYCYSTIC OVARY SYNDROME; POLYMORPHISM, GENETIC; RECEPTORS, SOMATOTROPIN; WAIST CIRCUMFERENCE;

EID: 80052599005     PISSN: 10966374     EISSN: 15322238     Source Type: Journal    
DOI: 10.1016/j.ghir.2011.07.002     Document Type: Article

References (17)

1. Azziz R. Polycystic ovary syndrome, insulin resistance, and molecular defects of insulin signaling. J. Clin. Endocrinol. Metab. 2002, 87:4085-4087.
2. Azziz R., Woods K.S., Reyna R., Key T.J., Knochenhauer E.S., Yildiz B.O. The prevalence and features of the polycystic ovary syndrome in an unselected population. J. Clin. Endocrinol. Metab. 2004, 89:2745-2749.
3. Legro R.S., Myers E. Surrogate end-points or primary outcomes in clinical trials in women with polycystic ovary syndrome?. Hum. Reprod. 2004, 19:1697-1704.
4. Carmina E. Genetic and environmental aspect of polycystic ovary syndrome. J. Endocrinol. Invest. 2003, 26:1151-1159.
5. Pantel J., Machinis K., Sobrier M.L., Duquesnoy P., Goossens M., Amselem S. Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution. J. Biol. Chem. 2000, 275:18664-18669.
6. Dos Santos C., Essioux L., Teinturier C., Tauber M., Goffin V., Bougneres P. A common polymorphism of the growth hormone receptor is associated with increased responsiveness to growth hormone. Nat. Genet. 2004, 36:720-724.
7. Urbanek M., Russell J.E., Cooke N.E., Liebhaber S.A. Functional characterization of the alternatively spliced, placental human growth hormone receptor. J. Biol. Chem. 1993, 268:19025-19032.
8. Kratzsch J., Wu Z., Kiess W., Dehmel B., Bosse-Henck A., Reuter W., Pflaum C.D., Strasburger C.J. The exon 3-retaining and the exon 3-deleted forms of the growth hormone-binding protein (GHBP) in human serum are regulated differently. Clin. Endocrinol. (Oxf) 2001, 54:61-68.
9. Strawbridge R.J., Karvestedt L., Li C., Efendic S., Ostenson C.G., Gu H.F., Brismar K. GHR exon 3 polymorphism: association with type 2 diabetes mellitus and metabolic disorder. Growth Horm. IGF Res. 2007, 17:392-398.
10. Sorensen K., Aksglaede L., Munch-Andersen T., Aachmann-Andersen N.J., Leffers H., Helge J.W., Hilsted L., Juul A. Impact of the growth hormone receptor exon 3 deletion gene polymorphism on glucose metabolism, lipids, and insulin-like growth factor-I levels during puberty. J. Clin. Endocrinol. Metab. 2009, 94:2966-2969.
11. Giavoli C., Ferrante E., Profka E., Olgiati L., Bergamaschi S., Ronchi C.L., Verrua E., Filopanti M., Passeri E., Montefusco L., Lania A.G., Corbetta S., Arosio M., Ambrosi B., Spada A., Beck-Peccoz P. Influence of the d3GH receptor polymorphism on the metabolic and biochemical phenotype of GH-deficient adults at baseline and during short- and long-term recombinant human GH replacement therapy. Eur. J. Endocrinol. 2010, 163:361-368.
12. Chen Z.J., Zhao H., He L., Shi Y., Qin Y., Shi Y., Li Z., You L., Zhao J., Liu J., Liang X., Zhao X., Zhao J., Sun Y., Zhang B., Jiang H., Zhao D., Bian Y., Gao X., Geng L., Li Y., Zhu D., Sun X., Xu J.E., Hao C., Ren C.E., Zhang Y., Chen S., Zhang W., Yang A., Yan J., Li Y., Ma J., Zhao Y. Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3. Nat. Genet. Jan. 2011, 43(1):55-59.
13. Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome (PCOS). Hum. Reprod. 2004, 19:41-47. Group REA-SPCW.
14. Matthews D.R., Hosker J.P., Rudenski A.S., Naylor B.A., Treacher D.F., Turner R.C. Homeostasis model assessment: insulin resistance and beta-cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia 1985, 28:412-419.
15. Lin J.F., Li X., Zhu M.W. Exploration of the classification of polycystic ovarian syndrome. Chin. J. Obstet. Gynecol. 2006, 41:684-688.
16. Toyoshima M.T., Castroneves L.A., Costalonga E.F., Mendonca B.B., Arnhold I.J., Jorge A.A. Exon 3-deleted genotype of growth hormone receptor (GHRd3) positively influences IGF-1 increase at generation test in children with idiopathic short stature. Clin Endocrinol (Oxf) 2007, 67(4):500-504.
17. Schreiner F., Gohlke B., Stutte S., Bartmann P., Woelfle J. Growth hormone receptor d3-variant, insulin-like growth factor binding protein-1-575G/A polymorphism and postnatal catch-up growth: association with parameters of glucose homeostasis in former extremely low birth weight preterm infants. Growth Horm. IGF Res. 2010, 20:201-204.