Bertram L, Tanzi RE: The current status of Alzheimer's disease genetics: what do we tell the patients?. Pharmacol Res. 2004, 50: 385-396. 10.1016/j.phrs.2003.11.018.
Article
CAS
PubMed
Google Scholar
Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE, Gaskell PC, Small GW, Roses AD, Haines JL, Pericak-Vance MA: Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science. 1993, 261: 921-923. 10.1126/science.8346443.
Article
CAS
PubMed
Google Scholar
Saunders AM, Strittmatter WJ, Schmechel D, George-Hyslop PH, Pericak-Vance MA, Joo SH, Rosi BL, Gusella JF, Crapper-MacLachlan DR, Alberts MJ, et al: Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease. Neurology. 1993, 43: 1467-1472.
Article
CAS
PubMed
Google Scholar
Farrer LA, Cupples LA, Haines JL, Hyman B, Kukull WA, Mayeux R, Myers RH, Pericak-Vance MA, Risch N, van Duijn CM: Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium. Jama. 1997, 278: 1349-1356. 10.1001/jama.278.16.1349.
Article
CAS
PubMed
Google Scholar
Roses A, Devlin B, Conneally P, Small G, Saunders A, Pritchard M: Measuring the genetic contribution of APOE in late-onset Alzheimer disease. Am J Hum Genet. 1995, 57: A202-
Google Scholar
Daw EW, Payami H, Nemens EJ, Nochlin D, Bird TD, Schellenberg GD, Wijsman EM: The number of trait loci in late-onset Alzheimer disease. Am J Hum Genet. 2000, 66: 196-204. 10.1086/302710.
Article
CAS
PubMed
Google Scholar
Chapuis J, Tian J, Shi J, Bensemain F, Cottel D, Lendon C, Amouyel P, Mann D, Lambert JC: Association study of the vascular endothelial growth factor gene with the risk of developing Alzheimer's disease. Neurobiol Aging. 2006, 27: 1212-1215. 10.1016/j.neurobiolaging.2005.07.013.
Article
CAS
PubMed
Google Scholar
Ozturk A, DeKosky ST, Kamboh MI: Lack of association of 5 SNPs in the vicinity of the insulin-degrading enzyme (IDE) gene with late-onset Alzheimer's disease. Neurosci Lett. 2006, 406: 265-269. 10.1016/j.neulet.2006.07.054.
Article
CAS
PubMed
Google Scholar
Pritchard A, Harris J, Pritchard CW, St Clair D, Lemmon H, Lambert JC, Chartier-Harlin MC, Hayes A, Thaker U, Iwatsubo T, Mann DM, Lendon C: Association study and meta-analysis of low-density lipoprotein receptor related protein in Alzheimer's disease. Neurosci Lett. 2005, 382: 221-226. 10.1016/j.neulet.2005.03.016.
Article
CAS
PubMed
Google Scholar
Monastero R, Cefalu AB, Camarda C, Noto D, Camarda LK, Caldarella R, Imbornone E, Averna MR, Camarda R: Association of estrogen receptor alpha gene with Alzheimer's disease: a case-control study. J Alzheimers Dis. 2006, 9: 273-278.
CAS
PubMed
Google Scholar
Pirskanen M, Hiltunen M, Mannermaa A, Helisalmi S, Lehtovirta M, Hanninen T, Soininen H: Estrogen receptor beta gene variants are associated with increased risk of Alzheimer's disease in women. Eur J Hum Genet. 2005, 13: 1000-1006. 10.1038/sj.ejhg.5201447.
Article
CAS
PubMed
Google Scholar
Bowen RL, Isley JP, Atkinson RL: An association of elevated serum gonadotropin concentrations and Alzheimer disease?. J Neuroendocrinol. 2000, 12: 351-354. 10.1046/j.1365-2826.2000.00461.x.
Article
CAS
PubMed
Google Scholar
Short RA, Bowen RL, O'Brien PC, Graff-Radford NR: Elevated gonadotropin levels in patients with Alzheimer disease. Mayo Clin Proc. 2001, 76: 906-909.
Article
CAS
PubMed
Google Scholar
Hogervorst E, Bandelow S, Combrinck M, Smith AD: Low free testosterone is an independent risk factor for Alzheimer's disease. Exp Gerontol. 2004, 39: 1633-1639. 10.1016/j.exger.2004.06.019.
Article
CAS
PubMed
Google Scholar
Lukacs H, Hiatt ES, Lei ZM, Rao CV: Peripheral and intracerebroventricular administration of human chorionic gonadotropin alters several hippocampus-associated behaviors in cycling female rats. Horm Behav. 1995, 29: 42-58. 10.1006/hbeh.1995.1004.
Article
CAS
PubMed
Google Scholar
Lei ZM, Rao CV: Novel presence of luteinizing hormone/human chorionic gonadotropin (hCG) receptors and the down-regulating action of hCG on gonadotropin-releasing hormone gene expression in immortalized hypothalamic GT1-7 neurons. Mol Endocrinol. 1994, 8: 1111-1121. 10.1210/me.8.8.1111.
CAS
PubMed
Google Scholar
Bowen RL, Verdile G, Liu T, Parlow AF, Perry G, Smith MA, Martins RN, Atwood CS: Luteinizing hormone, a reproductive regulator that modulates the processing of amyloid-beta precursor protein and amyloid-beta deposition. J Biol Chem. 2004, 279: 20539-20545. 10.1074/jbc.M311993200.
Article
CAS
PubMed
Google Scholar
Casadesus G, Atwood CS, Bowen RL, Smith MA: Luteinizing hormone modulates cognition and amyloid-beta deposition in Alzheimer APP tansgenic mice. Biochem Biophys Acta. 2006
Google Scholar
Liu T, Wimalasena J, Bowen RL, Atwood CS: Luteinizing hormone receptor mediates neuronal pregnenolone production via up-regulation of steroidogenic acute regulatory protein expression. J Neurochem. 2007, 100: 1329-1339. 10.1111/j.1471-4159.2006.04307.x.
Article
CAS
PubMed
Google Scholar
Weill-Engerer S, David JP, Sazdovitch V, Liere P, Eychenne B, Pianos A, Schumacher M, Delacourte A, Baulieu EE, Akwa Y: Neurosteroid quantification in human brain regions: comparison between Alzheimer's and nondemented patients. J Clin Endocrinol Metab. 2002, 87: 5138-5143. 10.1210/jc.2002-020878.
Article
CAS
PubMed
Google Scholar
Simpkins JW, Yang SH, Wen Y, Singh M: Estrogens, progestins, menopause and neurodegeneration: basic and clinical studies. Cell Mol Life Sci. 2005, 62: 271-280. 10.1007/s00018-004-4382-2.
Article
CAS
PubMed
Google Scholar
Mahley RW: Apolipoprotein E: cholesterol transport protein with expanding role in cell biology. Science. 1988, 240: 622-630. 10.1126/science.3283935.
Article
CAS
PubMed
Google Scholar
Andersen OM, Willnow TE: Lipoprotein receptors in Alzheimer's disease. Trends Neurosci. 2006, 29: 687-694. 10.1016/j.tins.2006.09.002.
Article
CAS
PubMed
Google Scholar
Themmen APN, Huhtaniemi IT: Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function. Endocr Rev. 2000, 21: 551-583. 10.1210/er.21.5.551.
Article
CAS
PubMed
Google Scholar
Huhtaniemi IT, Themmen AP: Mutations in human gonadotropin and gonadotropin-receptor genes. Endocrine. 2005, 26: 207-217. 10.1385/ENDO:26:3:207.
Article
CAS
PubMed
Google Scholar
Furui K, Suganuma N, Tsukahara S, Asada Y, Kikkawa F, Tanaka M, Ozawa T, Tomoda Y: Identification of two point mutations in the gene coding luteinizing hormone (LH) beta-subunit, associated with immunologically anomalous LH variants. J Clin Endocrinol Metab. 1994, 78: 107-113. 10.1210/jc.78.1.107.
CAS
PubMed
Google Scholar
Takahashi K, Kurioka H, Ozaki T, Kanasaki H, Miyazaki K, Karino K: Pituitary response to luteinizing hormone-releasing hormone in women with variant luteinizing hormone. Eur J Endocrinol. 2000, 143: 375-381. 10.1530/eje.0.1430375.
Article
CAS
PubMed
Google Scholar
Muller T, Gromoll J, Simoni M: Absence of exon 10 of the human luteinizing hormone (LH) receptor impairs LH, but not human chorionic gonadotropin action. J Clin Endocrinol Metab. 2003, 88: 2242-2249. 10.1210/jc.2002-021946.
Article
CAS
PubMed
Google Scholar
Richter-Unruh A, Martens JW, Verhoef-Post M, Wessels HT, Kors WA, Sinnecker GH, Boehmer A, Drop SL, Toledo SP, Brunner HG, Themmen AP: Leydig cell hypoplasia: cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor gene. Clin Endocrinol (Oxf). 2002, 56: 103-112. 10.1046/j.0300-0664.2001.01437.x.
Article
CAS
Google Scholar
Ashley-Koch AE, Mei H, Jaworski J, Ma DQ, Ritchie MD, Menold MM, Delong GR, Abramson RK, Wright HH, Hussman JP, Cuccaro ML, Gilbert JR, Martin ER, Pericak-Vance MA: An analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as risk factors for autistic disorder. Ann Hum Genet. 2006, 70: 281-292. 10.1111/j.1469-1809.2006.00253.x.
Article
CAS
PubMed
Google Scholar
Ghebremedhin E, Schultz C, Thal DR, Rub U, Ohm TG, Braak E, Braak H: Gender and age modify the association between APOE and AD-related neuropathology. Neurology. 2001, 56: 1696-1701.
Article
CAS
PubMed
Google Scholar
Payami H, Zareparsi S, Montee KR, Sexton GJ, Kaye JA, Bird TD, Yu CE, Wijsman EM, Heston LL, Litt M, Schellenberg GD: Gender difference in apolipoprotein E-associated risk for familial Alzheimer disease: a possible clue to the higher incidence of Alzheimer disease in women. Am J Hum Genet. 1996, 58: 803-811.
CAS
PubMed
PubMed Central
Google Scholar
Lehmann DJ, Butler HT, Warden DR, Combrinck M, King E, Nicoll JA, Budge MM, de Jager CA, Hogervorst E, Esiri MM, Ragoussis J, Smith AD: Association of the androgen receptor CAG repeat polymorphism with Alzheimer's disease in men. Neurosci Lett. 2003, 340: 87-90. 10.1016/S0304-3940(03)00069-7.
Article
CAS
PubMed
Google Scholar
Smith MA, Perry G, Atwood CS, Bowen RL: Estrogen replacement and risk of Alzheimer disease. Jama. 2003, 289: 1100; author reply 1101-2.
Article
Google Scholar
Meethal SV, Smith MA, Bowen RL, Atwood CS: The gonadotropin connection in Alzheimer's disease. Endocrine. 2005, 26: 317-326. 10.1385/ENDO:26:3:317.
Article
CAS
PubMed
Google Scholar
Strittmatter WJ, Weisgraber KH, Huang DY, Dong LM, Salvesen GS, Pericak-Vance M, Schmechel D, Saunders AM, Goldgaber D, Roses AD: Binding of human apolipoprotein E to synthetic amyloid beta peptide: isoform-specific effects and implications for late-onset Alzheimer disease. Proc Natl Acad Sci U S A. 1993, 90: 8098-8102. 10.1073/pnas.90.17.8098.
Article
CAS
PubMed
PubMed Central
Google Scholar
Fazekas F, Enzinger C, Ropele S, Schmidt H, Schmidt R, Strasser-Fuchs S: The impact of our genes: consequences of the apolipoprotein E polymorphism in Alzheimer disease and multiple sclerosis. J Neurol Sci. 2006, 245: 35-39. 10.1016/j.jns.2005.08.018.
Article
CAS
PubMed
Google Scholar
Zhang G, Curtiss LK, Wade RL, Dyer CA: An apolipoprotein E synthetic peptide selectively modulates the transcription of the gene for rat ovarian theca and interstitial cell P450 17alpha-hydroxylase, C17-20 lyase. J Lipid Res. 1998, 39: 2406-2414.
CAS
PubMed
Google Scholar
Foster JD, Strauss JF, Paavola LG: Cellular events involved in hormonal control of receptor-mediated endocytosis: regulation occurs at multiple sites in the low density lipoprotein pathway, including steps beyond the receptor. Endocrinology. 1993, 132: 337-350. 10.1210/en.132.1.337.
CAS
PubMed
Google Scholar
Milne RL, Ribas G, Gonzalez-Neira A, Fagerholm R, Salas A, Gonzalez E, Dopazo J, Nevanlinna H, Robledo M, Benitez J: ERCC4 Associated with Breast Cancer Risk: A Two-Stage Case-Control Study Using High-throughput Genotyping. Cancer Res. 2006, 66: 9420-9427. 10.1158/0008-5472.CAN-06-1418.
Article
CAS
PubMed
Google Scholar
Yu Y, Panhuysen C, Kranzler HR, Hesselbrock V, Rounsaville B, Weiss R, Brady K, Farrer LA, Gelernter J: Intronic variants in the dopa decarboxylase (DDC) gene are associated with smoking behavior in European-Americans and African-Americans. Hum Mol Genet. 2006, 15: 2192-2199. 10.1093/hmg/ddl144.
Article
CAS
PubMed
Google Scholar
Lin SL, Miller JD, Ying SY: Intronic MicroRNA (miRNA). J Biomed Biotechnol. 2006, 2006: 26818-
Article
PubMed
PubMed Central
Google Scholar
Wessagowit V, Nalla VK, Rogan PK, McGrath JA: Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseases. J Dermatol Sci. 2005, 40: 73-84. 10.1016/j.jdermsci.2005.05.006.
Article
CAS
PubMed
PubMed Central
Google Scholar
Matlin AJ, Clark F, Smith CW: Understanding alternative splicing: towards a cellular code. Nat Rev Mol Cell Biol. 2005, 6: 386-398. 10.1038/nrm1645.
Article
CAS
PubMed
Google Scholar
Churbanov A, Rogozin IB, Deogun JS, Ali H: Method of predicting splice sites based on signal interactions. Biol Direct. 2006, 1: 10-10.1186/1745-6150-1-10.
Article
PubMed
PubMed Central
Google Scholar
Lewis P, Zaykin D: Computer program for the analysis of allelic data. Version 1.0(d16c). 2007, [http://hydrodictyon.eeb.uconn.edu/people/plewis/software.php]
Google Scholar
Minitab: Minitab v 14.0 State College, PA.
Lancaster A, Nelson MP, Meyer D, Thomson G, Single RM: PyPop: a software framework for population genomics: analyzing large-scale multi-locus genotype data. Pac Symp Biocomput. 2003, 514-525.
Google Scholar
Hahn LW, Ritchie MD, Moore JH: Multifactor dimensionality reduction software for detecting gene-gene and gene-environment interactions. Bioinformatics. 2003, 19: 376-382. 10.1093/bioinformatics/btf869.
Article
CAS
PubMed
Google Scholar
Thornton-Wells TA, Moore JH, Haines JL: Genetics, statistics and human disease: analytical retooling for complexity. Trends Genet. 2004, 20: 640-647. 10.1016/j.tig.2004.09.007.
Article
CAS
PubMed
Google Scholar
Peduzzi P, Concato J, Kemper E, Holford TR, Feinstein AR: A simulation study of the number of events per variable in logistic regression analysis. J Clin Epidemiol. 1996, 49: 1373-1379. 10.1016/S0895-4356(96)00236-3.
Article
CAS
PubMed
Google Scholar
Ritchie MD, Hahn LW, Roodi N, Bailey LR, Dupont WD, Parl FF, Moore JH: Multifactor-dimensionality reduction reveals high-order interactions among estrogen-metabolism genes in sporadic breast cancer. Am J Hum Genet. 2001, 69: 138-147. 10.1086/321276.
Article
CAS
PubMed
PubMed Central
Google Scholar
Moore JH: The ubiquitous nature of epistasis in determining susceptibility to common human diseases. Hum Hered. 2003, 56: 73-82. 10.1159/000073735.
Article
PubMed
Google Scholar
Coffey CS, Hebert PR, Ritchie MD, Krumholz HM, Gaziano JM, Ridker PM, Brown NJ, Vaughan DE, Moore JH: An application of conditional logistic regression and multifactor dimensionality reduction for detecting gene-gene interactions on risk of myocardial infarction: the importance of model validation. BMC Bioinformatics. 2004, 5: 49-10.1186/1471-2105-5-49.
Article
PubMed
PubMed Central
Google Scholar
Motsinger AA, Ritchie MD: The effect of reduction in cross-validation intervals on the performance of multifactor dimensionality reduction. Genet Epidemiol. 2006, 30: 546-555. 10.1002/gepi.20166.
Article
PubMed
Google Scholar
Moore JH, Williams SM: New strategies for identifying gene-gene interactions in hypertension. Ann Med. 2002, 34: 88-95. 10.1080/07853890252953473.
Article
CAS
PubMed
Google Scholar
Williams SM, Addy JH, Phillips JA, Dai M, Kpodonu J, Afful J, Jackson H, Joseph K, Eason F, Murray MM, Epperson P, Aduonum A, Wong LJ, Jose PA, Felder RA: Combinations of variations in multiple genes are associated with hypertension. Hypertension. 2000, 36: 2-6.
Article
CAS
PubMed
Google Scholar
Jiang M, Lamminen T, Pakarinen P, Hellman J, Manna P, Herrera RJ, Huhtaniemi I: A novel Ala(-3)Thr mutation in the signal peptide of human luteinizing hormone beta-subunit: potentiation of the inositol phosphate signalling pathway and attenuation of the adenylate cyclase pathway by recombinant variant hormone. Mol Hum Reprod. 2002, 8: 201-212. 10.1093/molehr/8.3.201.
Article
CAS
PubMed
Google Scholar
Atger M, Misrahi M, Sar S, Le Flem L, Dessen P, Milgrom E: Structure of the human luteinizing hormone-choriogonadotropin receptor gene: unusual promoter and 5' non-coding regions. Mol Cell Endocrinol. 1995, 111: 113-123. 10.1016/0303-7207(95)03557-N.
Article
CAS
PubMed
Google Scholar
Kremer H, Martens JW, van Reen M, Verhoef-Post M, Wit JM, Otten BJ, Drop SL, Delemarre-van de Waal HA, Pombo-Arias M, De Luca F, Potau N, Buckler JM, Jansen M, Parks JS, Latif HA, Moll GW, Epping W, Saggese G, Mariman EC, Themmen AP, Brunner HG: A limited repertoire of mutations of the luteinizing hormone (LH) receptor gene in familial and sporadic patients with male LH-independent precocious puberty. J Clin Endocrinol Metab. 1999, 84: 1136-1140. 10.1210/jc.84.3.1136.
CAS
PubMed
Google Scholar