Steroid hormone receptor gene polymorphisms and osteoporosis: a pharmacogenomic review

Bibliography

• Osteoporosis prevention, diagnosis, and therapy consensus statement 2000. JAMA (2001) 285:785-795.
   PubMed Web of Science ®Google Scholar
• MELTON LJ, THAMER M, RAY NF et al.: Fractures attributable to osteoporosis: report from the national osteoporosis foundation. J. Bone Miner. Res. (1997) 12:16-23.
   PubMed Web of Science ®Google Scholar
• CUMMINGS SR, BLACK DM, NEVITT MC et al.: Bone density at various sites for prediction of hip fractures. Lancet (1993) 341:72-75.
   PubMed Web of Science ®Google Scholar
• SMITH DM, NANCE WE, KANG KW, CHRISTIAN JC, JOHNSTON CC: Genetic factors in determining bone mass. J. Clin. Invest. (1973) 52:2800-2808.
   PubMed Web of Science ®Google Scholar
• POCOCK NA, EISMAN JA, HOPPER I, YEATES MG, SAMBROOK PN, EBER S: Genetic determinants of bone mass in adults. J. Clin. Invest. (1987) 80:706-710.
   PubMed Web of Science ®Google Scholar
• EISMAN JA: Genetics of osteoporosis. Endocr. Rev. (1999) 20:788-804.
   PubMed Web of Science ®Google Scholar
• SMITH EP, BOYOD J, FRANK GR et al.: Estrogen resistance caused by a mutation in the estrogen receptor gene in a man. New Engl. J. Med. (1994) 331:1056-1061.
   PubMed Web of Science ®Google Scholar
• MORISHIMA A, GRUMBACH MM, SIMPSON ER, FISHER C, QIN K: Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. J. Clin. Endocrinol. Metab. (1995) 80:3689-3698.
   PubMed Web of Science ®Google Scholar
• JOHNSON ML, GONG G, KIMBERLING W, RECKER SM, KIMMEL DB, RECKER RB: Linkage of a gene causing high bone mass to human chromosome 11 (11q12-13). Am. J. Hum. Genet. (1997) 60:1326-1332.
   PubMed Web of Science ®Google Scholar
• WHYTE MP, REINUS WH, MUMM S: High-bone-mass disease and LRP5. N. Engl. J. Med. (2004) 350(20):2096-2099.
   PubMedGoogle Scholar
• STEWART TL, RALSTON SH: Role of genetic factors in the pathogenesis of osteoporosis. J. Endocrinol. (2000) 166:235-245.
   PubMedGoogle Scholar
• GENNARI L, BECHERINI L, FALCHETTI A, MASI L, MASSART F, BRANDI ML: Genetics of osteoporosis: role of steroid hormone receptor gene polymorphisms. J. Steroid Biochem. Mol. Biol. (2002) 81(1):1-24.
   PubMed Web of Science ®Google Scholar
• JENSEN EV: Steroid hormones, receptors, and antagonists. Ann. NY Acad. Sci. (1996) 784:1-17.
   PubMed Web of Science ®Google Scholar
• CATO AC, STOCK G, FUHRMANN U: Steroid hormone action 1998: novel challenges for drug design. J. Mol. Med. (1998) 76:459-460.
   PubMedGoogle Scholar
• LANDERS JP, SPELSBERG TC: Updates and new models for steroid hormone action. Ann. N Y Acad. Sci. (1991) 637:26-55.
   PubMedGoogle Scholar
• LAZAR MA: Mechanism of action of hormones that act on nuclear receptors. In: Williams Textbook of Endocrinology, 10th edn. Larsen PR, Kronenberg HM, Melmed S, Polonsky KS (eds). Saunders, Elsevier, Philadelphia PA (2002).
   Google Scholar
• CHAMBON P: The nuclear receptor superfamily: a personal retrospect on the first two decades. Mol. Endocrinol. (2005) 19:1418-1428.
   PubMed Web of Science ®Google Scholar
• MANGELSDORF DJ, THUMMEL C, BEATO M et al.: The nuclear receptor superfamily: the second decade. Cell (1995) 83:835-839.
   PubMed Web of Science ®Google Scholar
• BLAND R: Steroid hormone receptor and action on bone. Clin. Sci. (2000) 98:217-240.
   PubMed Web of Science ®Google Scholar
• COMPSTON JE: Sex steroids and bone. Physiol. Rev. (2001) 81:419-447.
   PubMed Web of Science ®Google Scholar
• TURNER RT, RIGGS BL, SPELSBERG TC: Skeletal effects of estrogen. Endocr. Rev. (1994) 15:275-300.
   PubMed Web of Science ®Google Scholar
• HOFBAUER LC, KHOSLA S: Androgen effects on bone metabolism: recent progress and controversies. Eur. J. Endocrinol. (1999) 140:271-286.
   PubMed Web of Science ®Google Scholar
• HAUSSLER MR, WHITFIELD GK, HAUSSLER CA et al.: The nuclear vitamin D receptor: biological and molecular regulatory properties revealed. J. Bone Miner. Res. (1998) 13:325-349.
   PubMed Web of Science ®Google Scholar
• LIESEGANG P, ROMALO G, SUDMANN M, WOLF L, SCHWEIKERT HU: Human osteoblast-like cells contain specific saturable, high-affinity glucocorticoid, androgen, estrogen and 1,25-dihydroxycholecalciferol receptors. J. Androl. (1994) 15:194-199.
   PubMedGoogle Scholar
• ABU EO, HORNER A, KUSEC V, TRIFFITT JT, COMPSTON JE: The localization of the functional glucocorticoid receptor α in human bone. J. Clin. Endocrinol. Metab. (2000) 85:883-889.
   PubMed Web of Science ®Google Scholar
• CANALIS E: Mechanisms of glucocorticoid action on bone: implications to glucocorticoid-induced osteoporosis. J. Clin. Endocrinol. Metab. (1996) 81:3441-3447.
   PubMed Web of Science ®Google Scholar
• WEINSTEIN RS, JILKA RL, PARFITT AM, MANOLAGAS SC: Inhibition of osteoblastogenesis and promotion of apoptosis of osteoblasts and osteocytes by glucocorticoids. Potential mechanisms of their deleterious effects on bone. J. Clin. Invest. (1998) 102:274-282.
   PubMed Web of Science ®Google Scholar
• MORRISON NA, YEOMAN R, KELLY PJ, EISMAN JA: Contribution of trans-acting factors alleles to normal physiological variability: Vitamin D receptor gene polymorphisms and circulating osteocalcin. Proc. Natl. Acad. Sci. USA (1992) 89:6665-6669.
   PubMed Web of Science ®Google Scholar
• MORRISON NA, CHENG JQI, AKIFUMI T et al.: Prediction of bone density from Vitamin D receptor alleles. Nature (1994) 367:284-287.
   PubMed Web of Science ®Google Scholar
• WILLING M, SOWERS M, ARON D et al.: Bone mineral density and its change in white women: estrogen and vitamin D receptor genotypes and their interaction. J. Bone Miner. Res. (1998) 13:695-705.
   PubMed Web of Science ®Google Scholar
• GENNARI L, BECHERINI L, MASI L et al.: Vitamin D and estrogen receptor allelic variants in post-menopausal women: evidence of multiple gene contribution on bone mineral density. J. Clin. Endocrinol. Metab. (1998) 83:939-944.
   PubMed Web of Science ®Google Scholar
• COOPER GS, UMBACH DM: Are Vitamin D receptor polymorphisms associated with bone mineral density? A meta-analysis. J. Bone Miner. Res. (1996) 11:1841-1849.
   PubMed Web of Science ®Google Scholar
• GONG G, STERN HS, CHENG SC et al.: The association of bone mineral density with Vitamin D receptor gene polymorphisms. Osteoporos. Int. (1999) 9:55-64.
   PubMed Web of Science ®Google Scholar
• THAKKINSTIAN A, D’ESTE C, EISMAN J, NGUYEN T, ATTIA J: Meta-analysis of molecular association studies: vitamin D receptor gene polymorphisms and BMD as a case study. J. Bone Miner. Res. (2004) 19:419-428.
   PubMed Web of Science ®Google Scholar
• MACDONALD HM, MCGUIGAN FE, STEWART A et al.: Large-scale population-based study shows no evidence of association between common polymorphisms of the VDR gene and BMD in British women. J. Bone Miner. Res. (2006) 21:151-162.
   PubMed Web of Science ®Google Scholar
• UITTERLINDEN AG, RALSTON SH, BRANDI ML et al.: Large-scale analysis of association between common vitamin D receptor gene variations and osteoporosis: the GENOMOS study. Ann. Int. Med. (2006) 145:255-264.
   PubMed Web of Science ®Google Scholar
• FERRARI SL, BONJOUR JP, RIZZOLI R: The Vitamin D receptor gene and calcium metabolism. Trends Endocrinol. Metab. (1998) 9:259- 264.
   PubMedGoogle Scholar
• FERRARI SL, RIZZOLI R, SLOSMAN DO, BONJOUR JP: Do dietary calcium and age explain the controversy surrounding the relationship between bone mineral density and vitamin D receptor gene polymorphisms? J.Bone Miner. Res. (1998) 13:363-370.
   PubMed Web of Science ®Google Scholar
• KRALL EA, PARRY P, LICHTER JB, DAWSON-HUGHES B: Vitamin D receptor alleles and rates of bone loss: influences of years since menopause and calcium intake. J. Bone Miner. Res. (1995) 10:978-984.
   PubMedGoogle Scholar
• FERRARI S, RIZZOLI R, CHEVALLERY T, SLOSMAN D, EISMAN JA, BONJOUR JP: Vitamin D receptor gene polymorphisms and change in lumbar spine bone mineral density. Lancet (1995) 345:423-424.
   PubMed Web of Science ®Google Scholar
• SALAMONE LM, GLYNN NW, BLACK DM et al.: Determinants of post-menopausal bone mineral density: the interplay of genetic and lifestyle factors. J. Bone Miner. Res. (1996) 11:1557-1565.
   PubMed Web of Science ®Google Scholar
• KIEL DP, MYERS RH, CUPPLES LA et al.: The Bsm I Vitamin D receptor restriction fragment length polymorphism (bb) influences the effect of calcium intake on bone mineral density. J. Bone Miner. Res. (1997) 12:1049-1057.
   PubMed Web of Science ®Google Scholar
• DAWSON-HUGHES B, HARRRIS SS, FINNERAN S: Calcium absorption on high and low calcium intake in relation to Vitamin D receptor genotype. J. Clin. Endocrinol. Metab. (1995) 80:3657-3661.
   PubMed Web of Science ®Google Scholar
• WISHART JM, HOROWITZ M, NEED AG et al.: Relations between calcium intake, calcitriol, polymorphisms of Vitamin D receptor gene and calcium absorption in pre-menopausal women. Am. J. Clin. Nutr. (1997) 65:798-802.
   PubMed Web of Science ®Google Scholar
• GENNARI L, BECHERINI L, MASI L et al.: Vitamin D receptor genotypes and intestinal calcium absorption in post-menopausal women. Calcif. Tissue Int. (1197) 61:460-463.
   Google Scholar
• AMES SK, ELLIS KJ, GUNN SK, COPELAND KC, ABRAMS SA: Vitamin D receptor gene Fok I polymorphism predicts calcium absorption and bone mineral density in children. J. Bone Miner. Res. (1999) 14:740-746.
   PubMed Web of Science ®Google Scholar
• BARGER LUX MJ, HEANEY RP, HAYES J, DE LUCA HF, JOHNSON ML, GONG G: Vitamin D receptor gene polymorphisms, bone mass, body size and mucosal VDR density. Calcif. Tissue Int. (1995) 57:161-162.
   PubMedGoogle Scholar
• KINYAMU UK, GALLAGHER JC, KNEZETIC JA, DE LUCA HF, PRAHL JM, LANSPA SJ: Effect of Vitamin D receptor genotypes on calcium absorption, duodenal Vitamin D receptor concentration and serum 1,25-dihydroxy-Vitamin D levels in normal women. Calcif. Tissue Int. (1997) 60:491-495.
   PubMed Web of Science ®Google Scholar
• YAMAGATA Z, MIYAMURA T, IIJIMA S et al.: Vitamin D receptor gene polymorphism and bone mineral density in healthy Japanese women. Lancet (1994) 344(8928):1027.
   PubMedGoogle Scholar
• HOWARD G, NGUYEN T, MORRISON N et al.: Genetic influences on bone density: physiological correlates of vitamin D receptor gene alleles in premenopausal women. J. Clin. Endocrinol. Metab. (1995) 80(9):2800-2805.
   PubMed Web of Science ®Google Scholar
• MATSUYAMA T, ISHII S, TOKITA A et al.: Vitamin D receptor genotypes and bone mineral density. Lancet (1995) 345(8959):1238-1239.
   PubMed Web of Science ®Google Scholar
• GRAAFMANS WC, LIPS P, OOMS ME, VAN LEEUWEN JP, POLS HA, UITTERLINDEN AG: The effect of vitamin D supplementation on the bone mineral density of the femoral neck is associated with vitamin D receptor genotype. J. Bone Miner. Res. (1997) 12(8):1241-1245.
   PubMed Web of Science ®Google Scholar
• HUNTER D, MAJOR P, ARDEN N et al.: A randomized controlled trial of vitamin D supplementation on preventing postmenopausal bone loss and modifying bone metabolism using identical twin pairs. J. Bone Miner. Res. (2000) 15(11):2276-2283.
   PubMed Web of Science ®Google Scholar
• PALOMBA S, ORIO F JR, RUSSO T et al.: BsmI vitamin D receptor genotypes influence the efficacy of antiresorptive treatments in postmenopausal osteoporotic women A 1-year multicenter, randomized and controlled trial. Osteoporos. Int. (2005) 16(8):943-952.
   PubMed Web of Science ®Google Scholar
• MORRISON NA, GEORGE PM, VAUGHAN T, TILYARD MW, FRAMPTON CM, GILCHRIST NL: Vitamin D receptor genotypes influence the success of calcitriol therapy for recurrent vertebral fracture in osteoporosis. Pharmacogenet. Genomics (2005) 15(2):127-135.
   PubMed Web of Science ®Google Scholar
• INGLES SA, HAILE RW, HENDERSON BE et al.: Strength of linkage disequilibrium between two vitamin D receptor markers in five ethnic groups: implications for association studies. Cancer Epidemiol. Biomarkers Prev. (1997) 6:93-98.
   PubMed Web of Science ®Google Scholar
• JURUTKA PW, WHITFIELD GK, HSIEH JC, THOMPSON PD, HAUSSLER CA, HAUSSLER MR: Molecular nature of the vitamin D receptor and its role in regulation of gene expression. Rev. Endocr. Metab. Disord. (2001) 2(2):203-216.
   PubMedGoogle Scholar
• SUH E, CHEN L, TAYLOR J, TRABER PG: A homeodomain protein related to caudal regulates intestine-specific gene transcription. Mol. Cell. Biol. (1994) 14(11):7340-7351.
   PubMed Web of Science ®Google Scholar
• FANG Y, VAN MEURS JB, D’ALESIO A: Promoter and 3´-untranslated-region haplotypes in the vitamin d receptor gene predispose to osteoporotic fracture: the rotterdam study. Am. J. Hum. Genet. (2005) 77(5):807-823.
   PubMed Web of Science ®Google Scholar
• ARAI H, MYAMOTO K, TAKETANI Y et al.: A vitamin D receptor gene polymorphism in the translation initiation codon: effect on protein activity and relation to bone mineral density in Japanese women. J. Bone Miner. Res. (1997) 12:915-921.
   PubMed Web of Science ®Google Scholar
• COLLIN EM, WEEL AEAM, UITTERLINDEN AG et al.: Consequences of vitamin D receptor gene polymorphisms for growth inhibition of cultured human peripheral blood mononuclear cells by 1,25-dihydroxy-vitamin D3. Clin. Endocrinol. (2000) 52:211-216.
   PubMedGoogle Scholar
• GROSS C, KRISHNAN AV, MALLOY PJ, ECCLESHALL TR, ZHAO XY, FELDMAN D: The vitamin D receptor start codon polymorphism: a functional analysis of Fok I variants. J. Bone Miner. Res. (1998) 13:1691-1699.
   PubMed Web of Science ®Google Scholar
• JURUTKA PW, REMUS LS, WHITFIELD GK et al.: The polymorphic N-terminus in human vitamin D receptor isoforms influences transcriptional activity by modulating interaction with transcription Factor IIB. Mol. Endocrinol. (2000) 14:401-420.
   PubMed Web of Science ®Google Scholar
• ARAI H, MIYAMOTO KI, YOSHIDA M et al.: The polymorphism in the caudal-related homeodomain protein Cdx-2 binding element in the human vitamin D receptor gene. J. Bone Miner. Res. (2001) 16(7):1256-1264.
   PubMed Web of Science ®Google Scholar
• UITTERLINDEN AG, FANG Y, VAN MEURS JB, POLS HA, VAN LEEUWEN JP: Genetics and biology of vitamin D receptor polymorphisms. Gene (2004) 338(2):143-156.
   PubMed Web of Science ®Google Scholar
• CROFTS L, HANCOCK M, MORRISON N, EISMAN J: Multiple promoters direct the tissue specific expression of novel N-terminal variant human Vitamin D receptor gene transcripts. Proc. Natl. Acad. Sci. USA (1998) 95:10529-10534.
   PubMed Web of Science ®Google Scholar
• GREEN S, WALTER P, KUMAR V et al.: Human oestrogen receptor cDNA: sequence, expression and homology to v-erb-A. Nature (1986) 320:134-139.
   PubMed Web of Science ®Google Scholar
• GREENE GL, GILNA P, WATERFIELD M et al.: Sequence and expression of human estrogen receptor complementary DNA. Science (1986) 231:1150-1154.
   PubMed Web of Science ®Google Scholar
• KUIPER GG, GUSTAFSSON JA: The novel estrogen receptor-β subtype: potential role in the cell- and promoter-specific actions of estrogens and anti-estrogens. FEBS Lett. (1997) 410:87-90.
   PubMed Web of Science ®Google Scholar
• MOSSELMAN S, POLMAN J, DIJKEMA R: ER β: identification and characterization of a novel human estrogen receptor. FEBS Lett. (1996) 392:49-53.
   PubMed Web of Science ®Google Scholar
• BATRA GS, HAINEY L, FREEMONT AJ et al.: Evidence for cell-specific changes with age in expression of oestrogen receptor (ER) α and β in bone fractures from men and women. J.Pathol. (2003) 200:65-73.
   PubMed Web of Science ®Google Scholar
• ONOE Y, MIYAURA C, OHTA H et al. : Expression of estrogen receptor β in rat bone. Endocrinology (1997) 138:4509-4512.
   PubMed Web of Science ®Google Scholar
• LIM SK, WON YJ, LEE HC et al.: A PCR analysis of ERα and ERβ mRNA abundance in rats and the effect of ovariectomy. J. Bone Miner. Res. (1999) 14:1189-1196.
   PubMed Web of Science ®Google Scholar
• BORD S, HORNER A, BEAVAN S et al.: Estrogen receptors α and β are differentially expressed in developing human bone. J. Clin. Endocrinol. Metab. (2001) 86:2309-2314.
   PubMed Web of Science ®Google Scholar
• VIDAL O, LINDBERG MK, HOLLBERG K et al.: Estrogen receptor specificity in the regulation of skeletal growth and maturation in male mice. Proc. Natl. Acad. Sci. USA (2000) 97:5474-5479.
   PubMed Web of Science ®Google Scholar
• LINDBERG MK, ALATALO SL, HALLEEN JM et al.: Estrogen receptor specificity in the regulation of the skeleton in female mice. J. Endocrinol. (2001) 171:229-236.
   PubMed Web of Science ®Google Scholar
• CHAGIN AS, LINDBERG MK, ANDERSSON N et al.: Estrogen receptor-β inhibits skeletal growth and has the capacity to mediate growth plate fusion in female mice. J. Bone Miner. Res. (2004) 19:72-7.
   PubMed Web of Science ®Google Scholar
• GENNARI L, MERLOTTI D, DE PAOLA V et al.: Estrogen receptor gene polymorphisms and the genetics of osteoporosis: a HuGE review. Am. J. Epidemiol. (2005) 161(4):307-320.
   PubMed Web of Science ®Google Scholar
• HERRINGTON DM, HOWARD TD, BROSNIHAN KB et al.: Common estrogen receptor polymorphism augments effects of hormone replacement therapy on E-selectin but not C-reactive protein. Circulation (2002) 105:1879-1882.
   PubMed Web of Science ®Google Scholar
• BECHERINI L, GENNARI L, MASI L et al.: Evidence of a linkage disequilibrium between polymorphisms in the human estrogen receptor α gene and their relationship to bone mass variation in postmenopausal Italian women. Hum. Mol. Genet. (2000) 12:2043-2050.
   Google Scholar
• IWASHITA S, KOYAMA K, NAKAMURA Y: VNTR sequence on human chromosome 11p15 that affects transcriptional activity. J. Hum. Genet. (2001) 46:717-721.
   PubMedGoogle Scholar
• SCHUBERT EL, LEE MK, NEWMAN B et al.: Single nucleotide polymorphisms (SNPs) in the estrogen receptor gene and breast cancer susceptibility. J. Steroid. Biochem. Mol. Biol. (1999) 71:21-27.
   PubMedGoogle Scholar
• MASSART F, REGINSTER JY, BRANDI ML: Genetics of menopause-associated diseases. Maturitas (2001) 40:103-116.
   PubMed Web of Science ®Google Scholar
• BRANDI ML, BECHERINI L, GENNARI L et al.: Association of the estrogen receptor α gene polymorphisms with sporadic Alzheimer’s disease. Biochem. Biophys. Res. Commun. (1999) 265:335-338.
   PubMed Web of Science ®Google Scholar
• TANAKA Y, SASAKI M, KANEUCHI M et al.: Polymorphisms of estrogen receptor α in prostate cancer. Mol. Carcinog. (2003) 37:202-208.
   PubMedGoogle Scholar
• YAMADA Y, ANDO F, NIINO N et al.: Association of polymorphisms of the estrogen receptor α gene with bone mineral density of the femoral neck in elderly Japanese women. J. Mol. Med. (2002) 80:452-460.
   PubMedGoogle Scholar
• IOANNIDIS JP, STAVROU I, TRIKALINOS TA et al.: Association of polymorphisms of the estrogen receptor α gene with bone mineral density and fracture risk in women: a meta-analysis. J. Bone Miner. Res. (2002) 17:2048-2060.
   PubMed Web of Science ®Google Scholar
• IOANNIDIS JP, RALSTON SH, BENNETT ST et al.: GENOMOS Study Differential genetic effects of ESR1 gene polymorphisms on osteoporosis outcomes. JAMA (2004) 292(17):2105-2114.
   PubMed Web of Science ®Google Scholar
• DVORNYK V, LIU XH, SHEN H et al.: Differentiation of Caucasians and Chinese at bone mass candidate genes: implication for ethnic difference of bone mass. Ann. Hum. Genet. (2003) 67:216-227.
   PubMedGoogle Scholar
• VAN MEURS JB, SCHUIT SC, WEEL AE et al.: Association of 5 estrogen receptor α gene polymorphisms with bone mineral density, vertebral bone area and fracture risk. Hum. Mol. Genet. (2003) 12:1745-1754.
   PubMed Web of Science ®Google Scholar
• KHOSLA S, RIGGS BL, ATKINSON EJ et al.: Relationship of estrogen receptor genotypes to bone mineral density and to rates of bone loss in men. J. Clin. Endocrinol. Metab. (2004) 89:1808-1816.
   PubMed Web of Science ®Google Scholar
• HASSAGER C, JENSEN SD, CHRISTIANSEN C: Non-responders to hormone replacement therapy for the prevention of postmenopausal bone loss: do they exist? Osteoporos.Int. (1994) 4:36-41.
   PubMedGoogle Scholar
• HAN KO, MOON IG, KANG YS et al.: Non-association of estrogen receptor genotypes with bone mineral density and estrogen responsiveness to hormone replacement therapy in Korean post-menopausal women. J. Clin. Endocrinol. Metab. (1997) 82:991-995.
   PubMed Web of Science ®Google Scholar
• DENG HV, LI J, LI JL et al.: Change of bone mass in post-menopausal Caucasian women with and without hormone replacement therapy is associated with vitamin D receptor and estrogen receptor genotypes. Hum. Genet. (1998) 103:576-585.
   PubMed Web of Science ®Google Scholar
• KURABAYASHI T, TOMITA M, MATSUSHITA H et al.: Association of vitamin D and estrogen receptor gene polymorphism with the effect of hormone replacement therapy on bone mineral density in Japanese women. Am. J. Obstet. Gynecol. (1999) 180:1115-1120.
   PubMed Web of Science ®Google Scholar
• SALMÉN T, HEIKKINEN AM, MAHONEN A et al.: Early post-menopausal bone loss is associated with PvuII estrogen receptor gene polymorphism in Finnish women: effect of hormone replacement therapy. J. Bone Miner. Res. (2000) 15:315-321.
   PubMed Web of Science ®Google Scholar
• ONGPHIPHADHANAKUL B, CHANPRASERTYOTHIN S, PAYATIKUL P et al.: Oestrogen-receptor-α gene polymorphism affects response in bone mineral density to oestrogen in post-menopausal women. Clin. Endocrinol. (2000) 52:581-585.
   PubMed Web of Science ®Google Scholar
• GIGUERE Y, DODIN S, BLANCHET C et al.: The association between heel ultrasound and hormone replacement therapy is modulated by a two-locus vitamin D and estrogen receptor genotype. J. Bone Miner. Res. (2000) 15:1076-1084.
   PubMed Web of Science ®Google Scholar
• SALMÉN T, HEIKKINEN AM, MAHONEN A et al.: The protective effect of hormone-replacement therapy on fracture risk is modulated by estrogen receptor-α genotype in early post-menopausal women. J. Bone Miner. Res. (2000) 15:2479-2486.
   PubMed Web of Science ®Google Scholar
• BAGGER YZ, HASSAGER C, HEEGAARD AM et al.: Vitamin D receptor and estrogen receptor gene polymorphisms in postmenopausal Danish women: no relation to bone markers or serum lipoproteins. Climacteric (2000) 3:84-91.
   PubMedGoogle Scholar
• ONGPHIPHADHANAKUL B, CHANPRASERTYOTHIN S, PAYATTIKUL P et al.: Association of a T262C transition in exon 1 of estrogen-receptor-α gene with skeletal responsiveness to estrogen in post-menopausal women. J. Endocrinol. Invest. (2001) 24:749-755.
   PubMedGoogle Scholar
• KOBAYASHI N, FUJINO T, SHIROGANE T et al.: Estrogen receptor α polymorphism as a genetic marker for bone loss, vertebral fractures and susceptibility to estrogen. Maturitas (2002) 41:193-201.
   PubMed Web of Science ®Google Scholar
• KURABAYASHI T, MATSUSHITA H, KATO N et al.: Effect of vitamin D receptor and estrogen receptor gene polymorphism on the relationship between dietary calcium and bone mineral density in Japanese women. J. Bone Miner. Metab. (2004) 22:139-147.
   PubMed Web of Science ®Google Scholar
• YAHATA T, QUAN J, TAMURA N, NAGATA H, KURABAYASHI T, TANAKA K: Association between single nucleotide polymorphisms of estrogen receptor α gene and efficacy of HRT on bone mineral density in post-menopausal Japanese women. Hum. Reprod. (2005) 20(7):1860-1866.
   PubMedGoogle Scholar
• SILVESTRI S, THOMSEN AB, GOZZINI A, BAGGER Y, CHRISTIANSEN C, BRANDI ML: Estrogen receptor α and β polymorphisms: is there an association with bone mineral density, plasma lipids, and response to postmenopausal hormone therapy? Menopause (2006) 13(3):451-461.
   PubMed Web of Science ®Google Scholar
• MASSART F: Human races and pharmacogenomics of effective bone treatments. Gyecol. Endocrinol. (2005) 20(1):36-44.
   PubMed Web of Science ®Google Scholar
• HERRINGTON DM, HOWARD TD, HAWKINS GA et al.: Estrogen-receptor polymorphisms and effects of estrogen replacement on high-density lipoprotein cholesterol in women with coronary disease. N. Engl. J. Med. (2002) 346:967-974.
   PubMed Web of Science ®Google Scholar
• ALMEIDA S, FIEGENBAUM M, DE ANDRADE FM, OSORIO-WENDER MC, HUTZ MH: ESR1 and APOE gene polymorphisms, serum lipids, and hormonal replacement therapy. Maturitas (2006) 54(2):119-126.
   PubMed Web of Science ®Google Scholar
• VAN DUIJNHOVEN FJ, PEETERS PH, WARREN RM et al.: Influence of estrogen receptor α and progesterone receptor polymorphisms on the effects of hormone therapy on mammographic density. Cancer Epidemiol. Biomarkers Prev. (2006) 15(3):462-467.
   PubMed Web of Science ®Google Scholar
• HERRINGTON DM, HOWARD TD: ER-α variants and the cardiovascular effects of hormone replacement therapy. Pharmacogenomics (2003) 4:269-277.
   PubMed Web of Science ®Google Scholar
• HERRINGTON DM: Role of estrogen receptor-α in pharmacogenetics of estrogen action. Curr. Opin. Lipidol. (2003) 14(2):145-150.
   PubMed Web of Science ®Google Scholar
• HERRINGTON DM, KLEIN KP: Invited review: pharmacogenetics of estrogen replacement therapy. J. Appl. Physiol. (2001) 91(6):2776-2784.
   PubMed Web of Science ®Google Scholar
• TEMPFER CB, SCHNEEBERGER C, HUBER JC: Applications of polymorphisms and pharmacogenomics in obstetrics and gynecology. Pharmacogenomics (2004) 5(1):57-65.
   PubMed Web of Science ®Google Scholar
• DELMAS PD, BJARNASON NH, MITLAK BH et al.: Effects of raloxifene on bone mineral density, serum cholesterol concentrations, and uterine endometrium in postmenopausal women. N. Engl. J. Med. (1997) 337:1641-1647.
   PubMed Web of Science ®Google Scholar
• HEILBERG IP, HERNANDEZ E, ALONZO E et al.: Estrogen receptor (ER) gene polymorphism may predict the bone mineral density response to raloxifene in postmenopausal women on chronic hemodialysis. Ren. Fail. (2005) 27(2):155-161.
   PubMed Web of Science ®Google Scholar
• ZHANG ZL, HE JW, QIN YJ et al.: Association of bone metabolism related genes polymorphisms with the effect of raloxifene hydrochloride on bone mineral density and bone turnover markers in postmenopausal women with osteoporosis. Zhonghua Yi Xue Yi Chuan Xue Za Zhi (2006) 23(2):129-133.
   PubMedGoogle Scholar
• YONEDA K, TANJI Y, IKEDA N et al.: Influence of adjuvant tamoxifen treatment on bone mineral density and bone turnover markers in postmenopausal breast cancer patients in Japan. Cancer Lett. (2002) 186:223-230.
   PubMedGoogle Scholar
• GARBER K: Tamoxifen pharmacogenetics moves closer to reality. J. Natl. Cancer Inst. (2005) 97(6):412-413.
   PubMedGoogle Scholar
• BROWN CJ, GOSS SJ, LUBAHN DB et al.: Androgen receptor locus on the human X chromosome: regional localization to Xq11-12 and description of a DNA polymorphism. Am. J. Hum. Genet. (1989) 44:264-269.
   PubMed Web of Science ®Google Scholar
• LUBAHN DB, JOSEPH DR, SAR M et al.: The human androgen receptor: complementary deoxyribonucleic acid cloning, sequence analysis and gene expression in prostate. Mol. Endocrinol. (1988) 2:1265- 1275.
   PubMed Web of Science ®Google Scholar
• CHOONG CS, WILSON EM: Trinucleotide repeats in the human androgen receptor: a molecular basis for disease. J. Mol. Endocrinol. (1998) 21:235-257.
   PubMed Web of Science ®Google Scholar
• LANGLEY E, ZHOU ZX, WILSON EM: Evidence for an anti-parallel orientation of the ligand-activated human androgen receptor dimmer. J. Biol. Chem. (1995) 270:29983-29990.
   PubMed Web of Science ®Google Scholar
• CHOONG CS, KEMPPAINEN JA, ZHOU ZX, WILSON EM: Reduced androgen receptor gene expression with first exon CAG repeat expansions. Mol. Endocr. (1996) 10:1527-1535.
   PubMedGoogle Scholar
• GIOVANNUCCI E, STAMPFER MJ, KRITHIVAS K et al.: The CAG repeat within the androgen receptor gene and its relationship to prostate cancer. Proc. Natl. Acad. Sci. USA (1997) 94:3320-3323.
   PubMed Web of Science ®Google Scholar
• SOWERS M, WILLING M, BURNS T et al.: Genetic markers, bone mineral density and serum osteocalcin levels. J. Bone Miner. Res. (1999) 14:1411- 1419.
   PubMed Web of Science ®Google Scholar
• VAN POTTELBERGH I, LUMBROSO S, GOEMAERE S, SULTAN C, KAUFMAN JM: Lack of influence of the androgen receptor gene CAG-repeat polymorphism on sex steroid status and bone metabolism in elderly men. Clin. Endocrinol. (2001) 55(5):659-666.
   Google Scholar
• ZITZMANN M, BRUNE M, KORNMANN B, GROMOLL J, JUNKER R, NIESCHLAG E: The CAG repeat polymorphism in the androgen receptor gene affects bone density and bone metabolism in healthy males. Clin. Endocrinol. (2001) 55(5):649-657.
   PubMed Web of Science ®Google Scholar
• LANGDAHL BL, STENKJAER L, CARSTENS M, TOFTENG CL, ERIKSEN EF: A CAG repeat polymorphism in the androgen receptor gene is associated with reduced bone mass and increased risk of osteoporotic fractures. Calcif. Tissue Int. (2003) 73(3):237-243.
   PubMedGoogle Scholar
• TOFTENG CL, KINDMARK A, BRANDSTROM H et al.: Danish Osteoporosis Prevention Study Polymorphisms in the CYP19 and AR genes-relation to bone mass and longitudinal bone changes in postmenopausal women with or without hormone replacement therapy: the Danish Osteoporosis Prevention Study. Calcif. Tissue Int. (2004) 74(1):25-34.
   PubMed Web of Science ®Google Scholar
• ZITZMANN M, DEPENBUSCH M, GROMOLL J, NIESCHLAG E: X chromosome inactivation patterns and androgen receptor functionality influence phenotype and social characteristics as well as pharmacogenetics of testosterone therapy in Klinefelter patients. J. Clin. Endocrinol. Metab. (2004) 89:6208-6217.
   PubMed Web of Science ®Google Scholar
• ZITZMANN M, DEPENBUSCH M, GROMOLL J, NIESCHLAG E: Prostate volume and growth in testosterone- substituted hypogonadal men are dependent on the CAG repeat polymorphism of the androgen receptor gene: a longitudinal pharmacogenetic study. J. Clin. Endocrinol. Metab. (2003) 88:2049-2054.
   PubMed Web of Science ®Google Scholar
• RETORNAZ F, PARIS F, LUMBROSO S et al.: Association between androgen receptor gene polymorphism and bone density in older women using hormone replacement therapy. Maturitas (2006) [Epub ahead of print].
   PubMedGoogle Scholar
• HOLLENBERG SM, WEINBERGER C, ONG ES et al.: Primary structure and expression of a functional human glucocorticoid receptor cDNA. Nature (1985) 318:635-641.
   PubMed Web of Science ®Google Scholar
• OAKLEY RH, JEWELL CM, YUDT MR, BOFETIADO DM, CIDLOWSKI JA: The dominant negative activity of the human glucocorticoid receptor β isoform specificity and mechanisms of action. J. Biol. Chem. (1999) 274(39):27857-27866.
   PubMed Web of Science ®Google Scholar
• ORII F, ASHIDA T, NOMURA M et al.: Quantitative analysis for human glucocorticoid receptor α/β mRNA in IBD. Biochem. Biophys. Res. Commun. (2002) 296(5):1286-1294.
   PubMed Web of Science ®Google Scholar
• TURNER JD, MULLER CP: Structure of the glucocorticoid receptor (NR3C1) gene 5’ untranslated region: identification, and tissue distribution of multiple new human exon 1. J. Mol. Endocrinol. (2005) 35(2):283-292.
   PubMed Web of Science ®Google Scholar
• VAN ROSSUM EF, LAMBERTS SW: Polymorphisms in the glucocorticoid receptor gene and their associations with metabolic parameters and body composition. Recent Prog. Horm. Res. (2004) 59:333-357.
   PubMedGoogle Scholar
• HURLEY DM, ACCILI D, STRATAKIS CA et al.: Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance. J. Clin. Invest. (1991) 87(2):680-686.
   PubMed Web of Science ®Google Scholar
• HUIZENGA NA, KOPER JW, DE LANGE P et al.: A polymorphism in the glucocorticoid receptor gene may be associated with and increased sensitivity to glucocorticoids in vivo. J. Clin. Endocrinol. Metab. (1998) 83(1):144-151.
   PubMed Web of Science ®Google Scholar
• VAN ROSSUM EF, KOPER JW, VAN DEN BELD AW et al.: Identification of the BclI polymorphism in the glucocorticoid receptor gene: association with sensitivity to glucocorticoids in vivo and body mass index. Clin. Endocrinol. (2003) 59(5):585-592.
   PubMed Web of Science ®Google Scholar
• VAN ROSSUM EF, VOORHOEVE PG, TE VELDE SJ et al.: The ER22/23EK polymorphism in the glucocorticoid receptor gene is associated with a beneficial body composition and muscle strength in young adults. J. Clin. Endocrinol. Metab. (2004) 89(8):4004-4009.
   PubMed Web of Science ®Google Scholar
• VAN ROSSUM EF, KOPER JW, HUIZENGA NA et al.: A polymorphism in the glucocorticoid receptor gene, which decreases sensitivity to glucocorticoids in vivo, is associated with low insulin and cholesterol levels. Diabetes (2002) 51(10):3128-3134.
   PubMed Web of Science ®Google Scholar
• FENG J, ZHENG J, BENNETT WP et al.: Five missense variants in the amino-terminal domain of the glucocorticoid receptor: no association with puerperal psychosis or schizophrenia. Am. J. Med. Genet. (2000) 96(3):412-417.
   PubMed Web of Science ®Google Scholar
• DE LANGE P, KOPER JW, HUIZENGA NA et al.: Differential hormone-dependent transcriptional activation and -repression by naturally occurring human glucocorticoid receptor variants. Mol. Endocrinol. (1997) 11(8):1156-1164.
   PubMed Web of Science ®Google Scholar
• SCHAAF MJ, CIDLOWSKI JA: AUUUA motifs in the 3´UTR of human glucocorticoid receptor α and mRNA destabilize mRNA and decrease receptor protein expression. Steroids (2002) 67:627-636.
   PubMed Web of Science ®Google Scholar
• DERIJK RH, SCHAAF MJ, TURNER G et al.: A human glucocorticoid receptor gene variant that increases the stability of the glucocorticoid receptor α-isoform mRNA is associated with rheumatoid arthritis. J. Rheumatol. (2001) 28:2383-2388.
   PubMed Web of Science ®Google Scholar
• KOYANO S, SAITO Y, NAGANO M et al.: Functional analysis of three genetic polymorphisms in the glucocorticoid receptor gene. J. Pharmacol. Exp. Ther. (2003) 307(1):110-116.
   PubMed Web of Science ®Google Scholar
• KASTNER P, KRUST A, TURCOTTE B et al.: Two distinct estrogen-regulated promoters generate transcripts encoding the two functionally different human progesterone receptor forms A and B. EMBO J. (1990) 9:1603-1614.
   PubMed Web of Science ®Google Scholar
• TSUKAMOTO K, WATANABE I, SHIBA T, EMI M: Isolation of a polymorphic CA repeat sequence at the human progesterone receptor (PGR) locus. J. Hum. Genet. (1988) 43:287-288.
   Google Scholar
• ROWE SM, COUGHLAN SJ, MCKENNA NJ et al.: Ovarian carcinoma- associated Taq I restriction fragment length polymorphism in intron G of the progesterone receptor gene is due to an Alu sequence insertion. Cancer Res. (1995) 55:2743-2745
   PubMed Web of Science ®Google Scholar
• SAKURAI A, BELL GI, DEGROOT LJ: Dinucleotide repeat polymorphism in the human thyroid hormone receptor β gene (THRB) on chromosome 3. Nucleic Acids Res. (1991) 19:6661
   PubMedGoogle Scholar
• SAKURAI A, BELL GI, DEGROOT LJ: Dinucleotide repeat polymorphism in the human thyroid hormone receptor 1α gene (THRA1) on chromosome 17. Hum. Mol. Genet. (1992) 1:553
   PubMedGoogle Scholar
• TASSI V, SCARNECCHIA L, DI CERBO A et al.: A thyroid hormone receptor α gene polymorphism associated with Graves’ disease. J. Mol. Endocrinol. (1995) 15:267-272
   PubMedGoogle Scholar
• NEBERT DW: Pharmacogenetics and pharmacogenomics: why is this relevant to the clinical genetists? Clin. Genet. (1999) 56(4):247-258.
   PubMed Web of Science ®Google Scholar
• NGUYEN TV, EISMAN JA: Pharmacogenomics of osteoporosis: opportunities and challenges. J. Musculoskelet. Neuronal. Interact. (2006) 6(1):62-72.
   PubMedGoogle Scholar
• BRACCO L, KEARSEY J: The relevance of alternative RNA splicing to pharmacogenomics. Trends Biotech. (2003) 21:346-353.
   PubMedGoogle Scholar