Appendix of References with Eligible Data (Submitted for Peer-Review May Become Available

Appendix of References with Eligible Data

1. Alvarez V, Mata IF, Gonzalez P, et al. Association between the TNFalpha- 308 A/G polymorphism and the onset-age of Alzheimer disease. Am J Med Genet 2002;114:574-7. 2. Ardlie KG, Lunetta KL, Seielstad M. Testing for population subdivision and association in four case-control studies. Am J Hum Genet 2002;71:304-11. 3. Beranek M, Kankova K, Benes P, et al. Polymorphism R25P in the gene encoding transforming growth factor-beta (TGF-beta1) is a newly identified risk factor for proliferative diabetic retinopathy. Am J Med Genet 2002;109:278-83. 4. Brody LC, Conley M, Cox C, et al. A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group. Am J Hum Genet 2002;71:1207-15. 5. Buss S, Muller-Thomsen T, Hock C, et al. No association between DCP1 genotype and late-onset Alzheimer disease. Am J Med Genet 2002;114:440-5. 6. Casey G, Neville PJ, Plummer SJ, et al. RNASEL Arg462Gln variant is implicated in up to 13% of prostate cancer cases. Nat Genet 2002;32:581-3. 7. Cavallini MC, Di Bella D, Siliprandi F, Malchiodi F, Bellodi L. Exploratory factor analysis of obsessive-compulsive patients and association with 5-HTTLPR polymorphism. Am J Med Genet 2002;114:347-53. 8. Chao HM, Richardson MA. Aromatic amino acid hydroxylase genes and schizophrenia. Am J Med Genet 2002;114:626-30. 9. Chen AC, Laforge KS, Ho A, et al. Potentially functional polymorphism in the promoter region of prodynorphin gene may be associated with protection against cocaine dependence or abuse. Am J Med Genet 2002;114:429-435.

10. Chung IW, Kim H, Lee SI, et al. Evidence for an N-glycosylation polymorphism of arylsulfatase a predisposing to alcoholism in Koreans. Am J Med Genet 2002;114:186-9.

11. Comings DE, Wu S, Rostamkhani M, McGue M, Iacono WG, MacMurray JP. Association of the muscarinic cholinergic 2 receptor (CHRM2) gene with major depression in women. Am J Med Genet 2002;114:527-9. 12. Copin B, Brezin AP, Valtot F, Dascotte JC, Bechetoille A, Garchon HJ. Apolipoprotein E-promoter single-nucleotide polymorphisms affect the phenotype of primary open-angle glaucoma and demonstrate interaction with the myocilin gene. Am J Hum Genet 2002;70:1575-81. 13. Croen LA, Shaw GM, Barber RC, Baker MM, Finnell RH, Lammer EJ. Apolipoprotein B and apolipoprotein E genotypes and sporadic holoprosencephaly. Am J Med Genet 2002;108:75-77. 14. Cusin C, Serretti A, Lattuada E, Lilli R, Lorenzi C, Smeraldi E. Association study of MAO-A, COMT, 5-HT2A, DRD2, and DRD4 polymorphisms with illness time course in mood disorders. Am J Med Genet 2002;114:380-90. 15. Dermaut B, Theuns J, Sleegers K, et al. The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample. Am J Hum Genet 2002;70:1568-74. 16. DeStefano AL, Lew MF, Golbe LI, et al. PARK3 influences age at onset in Parkinson disease: a genome scan in the GenePD study. Am J Hum Genet 2002;70:1089-95. 17. Foulkes WD, Thiffault I, Gruber SB, et al. The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. Am J Hum Genet 2002;71:1395-412. 18. Hammond L, Castanotto D, Rice SR, et al. Alteration of branch site consensus sequence and enhanced pre-mRNA splicing of an NMDAR1 intron not associated with schizophrenia. Am J Med Genet 2002;114:631-6. 19. Hassan Z, Mohan V, Ali L, et al. SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Indian subcontinent. Am J Hum Genet 2002;71:964-8. 20. Hattori M, Kunugi H, Akahane A, et al. Novel polymorphisms in the promoter region of the neurotrophin-3 gene and their associations with schizophrenia. Am J Med Genet 2002;114:304-9. 21. Heijmans BT, Slagboom PE, Gussekloo J, et al. Association of APOE epsilon2/epsilon3/epsilon4 and promoter gene variants with dementia but not cardiovascular mortality in old age. Am J Med Genet. 2002;107:201-8. 22. Imai K, Harada S, Kawanishi Y, Tachikawa H, Okubo T, Asada T. Association analysis of an (AC)n repeat polymorphism in the GABA(B) receptor gene and schizophrenia. Am J Med Genet 2002;114:605-8. 23. Ishiguro H, Okubo Y, Ohtsuki T, Yamakawa-Kobayashi K, Arinami T. Mutation analysis of the retinoid X receptor beta, nuclear-related receptor 1, and peroxisome proliferator-activated receptor alpha genes in schizophrenia and alcohol dependence: possible haplotype association of nuclear-related receptor 1 gene to alcohol dependence. Am J Med Genet 2002;114(1):15-23. 24. Jahnes E, Muller DJ, Schulze TG, et al. Association study between two variants in the DOPA decarboxylase gene in bipolar and unipolar affective disorder. Am J Med Genet 2002;114:519-22. 25. Kanetsky PA, Swoyer J, Panossian S, Holmes R, Guerry D, Rebbeck TR. A polymorphism in the agouti signaling protein gene is associated with human pigmentation. Am J Hum Genet 2002;70:770-5. 26. Li T, Liu X, Zhao J, et al. Allelic association analysis of the dopamine D2, D3, 5-HT2A, and GABA(A)gamma2 receptors and serotonin transporter genes with heroin abuse in Chinese subjects. Am J Med Genet 2002;114:329-35. 27. Liede A, Malik IA, Aziz Z, Rios Pd Pde L, Kwan E, Narod SA. Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan. Am J Hum Genet 2002;71:595-606. 28. Limosin F, Gorwood P, Loze JY, et al. Male limited association of the dopamine receptor D2 gene TaqI a polymorphism and alcohol dependence. Am J Med Genet 2002;112:343-6. 29. Lin RC, Morris BJ. Association analysis of polymorphisms at the interleukin-1 locus in essential hypertension. Am J Med Genet 2002;107:311-6. 30. Marti SB, Cichon S, Propping P, Nothen M. Metabotropic glutamate receptor 3 (GRM3) gene variation is not associated with schizophrenia or bipolar affective disorder in the German population. Am J Med Genet 2002;114:46-50. 31. Mateo I, Sanchez-Guerra M, Combarros O, et al. Lack of association between cathepsin D genetic polymorphism and Alzheimer disease in a Spanish sample. Am J Med Genet 2002;114:31-3. 32. Muller DJ, Schulze TG, Jahnes E, et al. Association between a polymorphism in the pseudoautosomal X-linked gene SYBL1 and bipolar affective disorder. Am J Med Genet 2002;114:74-8. 33. Niimi T, Munakata M, Keck-Waggoner CL, et al. A polymorphism in the human UGRP1 gene promoter that regulates transcription is associated with an increased risk of asthma. Am J Hum Genet 2002;70:718-25. 34. Nishiguchi N, Shirakawa O, Ono H, et al. Lack of an association between 5-HT1A receptor gene structural polymorphisms and suicide victims. Am J Med Genet 2002;114:423-5. 35. Norton N, Kirov G, Zammit S, et al. Schizophrenia and functional polymorphisms in the MAOA and COMT genes: no evidence for association or epistasis. Am J Med Genet 2002;114:491-6. 36. O'Leary VB, Parle-McDermott A, Molloy AM, et al. MTRR and MTHFR polymorphism: link to Down syndrome? Am J Med Genet 2002;107:151-5. 37. Ono H, Shirakawa O, Nishiguchi N, et al. No evidence of an association between a functional monoamine oxidase a gene polymorphism and completed suicides. Am J Med Genet 2002;114:340-2. 38. Ozaki K, Ohnishi Y, Iida A, et al. Functional SNPs in the lymphotoxin- alpha gene that are associated with susceptibility to myocardial infarction. Nat Genet 2002;32:650-4. 39. Poduslo SE, Shook B, Drigalenko E, Yin X. Lack of association of the two polymorphisms in alpha-2 macroglobulin with Alzheimer disease. Am J Med Genet 2002;110:30-5. 40. Rennert H, Bercovich D, Hubert A, et al. A novel founder mutation in the RNASEL gene, 471delAAAG, is associated with prostate cancer in Ashkenazi Jews. Am J Hum Genet 2002;71:981-4. 41. Rokman A, Ikonen T, Seppala EH, et al. Germline alterations of the RNASEL gene, a candidate HPC1 gene at 1q25, in patients and families with prostate cancer. Am J Hum Genet 2002;70:1299-304. 42. Roks G, Cruts M, Houwing-Duistermaat JJ, et al. Effect of the APOE- 491A/T promoter polymorphism on apolipoprotein E levels and risk of Alzheimer disease: The Rotterdam Study. Am J Med Genet 2002;114:570-3. 43. Sand PG, Schlurmann K, Luckhaus C, et al. Estrogen receptor 1 gene (ESR1) variants in panic disorder. Am J Med Genet 2002;114:426-8. 44. Segman RH, Shapira Y, Modai I, et al. Angiotensin converting enzyme gene insertion/deletion polymorphism: case-control association studies in schizophrenia, major affective disorder, and tardive dyskinesia and a family- based association study in schizophrenia. Am J Med Genet 2002;114:310-4. 45. Serretti A, Lorenzi C, Lilli R, Mandelli L, Pirovano A, Smeraldi E. Pharmacogenetics of lithium prophylaxis in mood disorders: analysis of COMT, MAO-A, and Gbeta3 variants. Am J Med Genet 2002;114:370-9. 46. Shaw GM, Lammer EJ, Zhu H, Baker MW, Neri E, Finnell RH. Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida. Am J Med Genet 2002;108:1-6. 47. Shibata N, Ohnuma T, Takahashi T, et al. Effect of IL-6 polymorphism on risk of Alzheimer disease: genotype-phenotype association study in Japanese cases. Am J Med Genet. 2002;114:436-439. 48. Shifman S, Bronstein M, Sternfeld M, et al. A highly significant association between a COMT haplotype and schizophrenia. Am J Hum Genet 2002;71:1296- 302. 49. Staner L, Uyanik G, Correa H, et al. A dimensional impulsive-aggressive phenotype is associated with the A218C polymorphism of the tryptophan hydroxylase gene: a pilot study in well-characterized impulsive inpatients. Am J Med Genet 2002;114:553-7. 50. Takei T, Iida A, Nitta K, et al. Association between single-nucleotide polymorphisms in selectin genes and immunoglobulin A nephropathy. Am J Hum Genet 2002;70:781-6. 51. Tan EC, Chong SA, Chan AO, Tan CH. No evidence for association of the T102C polymorphism in the serotonin type 2A receptor with suicidal behavior in schizophrenia. Am J Med Genet 2002;114:321-2. 52. Tang G, Xie H, Xu L, Hao Y, Lin D, Ren D. Genetic study of apolipoprotein E gene, alpha-1 antichymotrypsin gene in sporadic Parkinson disease. Am J Med Genet. 2002;114:446-449. 53. Toyota T, Hattori E, Meerabux J, et al. Molecular analysis, mutation screening, and association study of adenylate cyclase type 9 gene (ADCY9) in mood disorders. Am J Med Genet 2002;114:84-92. 54. Tsai MT, Hung CC, Tsai CY, et al. Mutation analysis of synapsin III gene in schizophrenia. Am J Med Genet 2002;114:79-83. 55. Vahteristo P, Bartkova J, Eerola H, et al. A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet 2002;71:432-8. 56. Villafuerte SM, Del-Favero J, Adolfsson R, et al. Gene-based SNP genetic association study of the corticotropin-releasing hormone receptor-2 (CRHR2) in major depression. Am J Med Genet 2002;114(2):222-6. 57. Wang L, McDonnell SK, Elkins DA, et al. Analysis of the RNASEL gene in familial and sporadic prostate cancer. Am J Hum Genet 2002;71:116-23. 58. Wang Z, Wassink T, Andreasen NC, Crowe RR. Possible association of a cholecystokinin promoter variant to schizophrenia. Am J Med Genet 2002;114:479-82. 59. Xu K, Liu XH, Nagarajan S, Gu XY, Goldman D. Relationship of the delta- opioid receptor gene to heroin abuse in a large Chinese case/control sample. Am J Med Genet 2002;110:45-50. 60. Yu CE, Dawson G, Munson J, et al. Presence of large deletions in kindreds with autism. Am J Hum Genet 2002;71:100-15. 61. Zill P, Baghai TC, Zwanzger P, et al. Association analysis of a polymorphism in the G-protein stimulatory alpha subunit in patients with major depression. Am J Med Genet 2002;114:530-2.