Genetic studies of neuropsychiatric disorders in Costa Rica: A model for the use of isolated populations

Psychiatric Genetics

Volumn 14, Issue 1, 2004, Pages 13-23

  Mathews, Carol A ^a   Reus, Victor I ^b   Bejarano, Julio ^c   Escamilla, Michael A ^d   Fournier, Eduardo ^c   Herrera, Luis Diego ^e   Lowe, Thomas L ^b   McInnes, L Alison ^f   Molina, Julio ^g   Ophoff, Roel A ^h   Raventos, Henrietta ^c   Sandkuijl, Lodewijk A ⁱ   Service, Susan K ^h   Spesny, Mitzi ^c   León, Pedro E ^c   Freimer, Nelson B ^h  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSIDAD DE COSTA RICA   (Costa Rica)

^d Mays Cancer Center at UT Health San Antonio   (United States)

^e Hospital CIMA   (Costa Rica)

^f MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^g Ctro Internacional Contr de Estres   (Guatemala)

^h UNIVERSITY OF CALIFORNIA   (United States)

ⁱ LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Bipolar disorder; Costa rica; Genetic isolates; Genetics; Linkage disequilibrium; Neuropsychiatric disorders; Review; Tourette Syndrome

Indexed keywords

ALCOHOLISM; ARTICLE; ATTENTION DEFICIT DISORDER; BIPOLAR DISORDER; COSTA RICA; ENVIRONMENTAL FACTOR; GENE IDENTIFICATION; GENE MAPPING; GENETIC ANALYSIS; GENETIC EPIDEMIOLOGY; GENETIC LINKAGE; GILLES DE LA TOURETTE SYNDROME; HUMAN; MAJOR DEPRESSION; MENTAL DISEASE; NEUROPSYCHIATRY; OBSESSIVE COMPULSIVE DISORDER; PHENOTYPE; POPULATION GENETICS; POPULATION RESEARCH; PRIORITY JOURNAL; SCHIZOPHRENIA;

ATTITUDE TO HEALTH; BIPOLAR DISORDER; CHROMOSOMES, HUMAN; COSTA RICA; GENETIC DRIFT; HUMANS; INDIANS, CENTRAL AMERICAN; MENTAL DISORDERS; MODELS, GENETIC; PREJUDICE; SCHIZOPHRENIA; SOCIAL ISOLATION; SPAIN; TOURETTE SYNDROME;

EID: 12144291199     PISSN: 09558829     EISSN: None     Source Type: Journal    
DOI: 10.1097/00041444-200403000-00003     Document Type: Article

References (117)

1. Abeliovich D, Kaduri L, Lerer I, Weinberg N, Amir G, Sagi M, et al. (1997). The founder mutations 185delAG and 5392insC in BRCA1 and 617delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am J Hum Genet 60:505-514.
2. Arcos-Burgos M, Muenke M (2002). Genetics of population isolates. Clin Genet 61:233-247.
3. Amason E, Sigurgislason H, Benedikz B (2000). Genetic homogeneity of Icelanders: fact or fiction? Nat Genet 25:373-374.
4. Balderas TG, Montero AP, Benavides E, Rodriguez S, Almasy L, Raventos H, Escamilla MA (2001). Linkage disequilibrium analysis of schizophrenia (SC) in the Costa Rican population: preliminary findings on chromosome 18. Am J Med Genet 105:599-600.
5. Berrettini W (2000). Susceptibility loci for bipolar disorder: overlap with inherited vulnerability to schizophrenia. Biol Psychiatr 47:245-251.
6. Blaveri E, Kalsi G, Lawrence J, Quested D, Moorey H, Lamb G, et al. (2001). Genetic association studies of schizophrenia using the 8p21-22 genes: prepronociceptin (PNOC), neuronal nicotinic cholinergic receptor alpha polypeptide 2 (CHRNA2) and arylamine N-acetyltransferase 1 (NAT1). Eur J Hum Genet 9:469-472.
7. Blouin JL, Dombroski BA, Nath SK, Lasseter VK, Wolyniec PS, Nestadt G, et al. (1998). Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21. Nat Genet 20:70-73.
8. Bose HS, Sato S, Aisenberg J, Shalev SA, Matsuo N, Miller WL (2000). Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia. J Clin Endocr Metab 85: 3636-3689.
9. Camp NJ, Neuhausen SL, Tiobech J, Polloi A, Coon H, Myles-Worsley M (2001). Genomewide multipoint linkage analysis of seven extended Palauan pedigrees with schizophrenia, by a Markov-chain Monte Carlo method. Am J Hum Genet 69:1278-1289.
10. Carvajal-Carmona LG, Soto ID, Pineda N, Ortiz-Barrientos D, Duque C, Ospina-Duque J, et al. (2000). Strong Amerind/white sex bias and a possible Sephardic contribution among the founders of a population in northwest Colombia. Am J Hum Genet 67:1287-1295.
11. Carvajal-Carmona LG, Ophoff R, Service S, Hartiala J, Molina J, Leon P, et al. (2003). Genetic demography of Antioquia (Columbia) and the Central Valley of Costa Rica. Hum Genet 12:534-541.
12. Chichon S, Schumacher J, Müller DJ, Hürter M, Windemuth C, Strauch K, et al. (2001). A genome screen for genes predisposing to bipolar affective disorder detects a new susceptibility locus on 8q. Hum Mol Genet 10:2933-2944.
13. Colombo R, Bignamini AA, Carobene A, Sasaki J, Tachikawa M, Kobayashi K, Toda T (2000). Age and origin of the FCMD 3′-untranslated region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population. Hum Genet 107:559-567.
14. Couture P, Bovill EG, Demers C, Simard J, Delage R, Scott BT, et al. (2001). Evidence of a founder effect for the protein C gene 3363 inserted C mutation in thrombophilic pedigrees of French origin. Throm Haemost 86:1000-1006.
15. Cross HE (1976). Population studies and the Old Order Amish. Nature 262: 17-20.
16. Dagnino F, Stroppiano M, Regis S, Bonuccelli G, Filocamo M (2000). Evidence for a founder effect in Sicilian patients with glycogen storage disease type II. Hum Hered 50:331-333.
17. De La Chapelle A, Wright FA (1998). Linkage disequilibrium mapping in isolated populations: the example of Finland revisited. Proc Natl Acad Sci USA 95:12416-12423.
18. DeLisi LE, Mesen A, Rodriguez C, Bertheau A, LaPrade B, Llach M, et al. (2001). Clinical characteristics of schizophrenia in multiply affected Spanish origin families from Costa Rica. Psychiatri Genet 11:145-152.
19. DeLisi LE, Mesen A, Rodriguez C, Bertheau A, LaPrade B, Llach M, et al. (2002). Genome-wide scan for linkage to schizophrenia in a Spanish-origin cohort from Costa Rica. Neuropsych Genet 14:497-508.
20. Devlin B, Roeder K, Otto C, Tiobech S, Byerley W (2001). Genome-wide distribution of linkage disequilibrium in the population of Palau and its implications for gene flow in Remote Oceania. Hum Genet 108:521-528.
21. Eaves IA, Merriman TR, Barber RA, Nutland S, Tuomilehto-Wolf E, Tuoilehto J, etal. (2000). The genetically isolated populations of Finland and Sardinia may not be a panacea for linkage disequilibrium mapping of common disease genes. Nat Genet 25:320-323.
22. Ejima Y, Sasaki MS (1998). Mutations of the ATM gene detected in Japanese ataxia-telangiectasia patients: possible preponderance of the two founder mutations 4612del165 and 7883del5. Hum Genet 102:403-408.
23. Eng C, Hampel H, De La Chapelle A (2000). Genetic testing for cancer predisposition. Ann Rev Med 52:371-400.
24. Escamilla MA (2001). Population isolates: their special value for locating genes for bipolar disorder. Bipolar Disorder 3:299-317.
25. Escamilla M, Spesny M, Reus VI, Gallegos A, Meza L, Sandkuijl LA, et al. (1996). Use of linkage disequilibrium approaches to map genes for bipolar disorder in the Costa Rican population. Am J Med Genet 67:244-253.
26. Escamilla M, Raventos H, Montera P, Vinogradov S, Armas R, Reus VI, et al. (1997). Linkage disequilibrium mapping of schizophrenia in the Costa Rican population. Am J Med Genet 74:650 (abstract).
27. Escamilla MA, McInnes LA, Spesny M, Reus VI, Service SK, Shimayoshi N, et al. (1999). Assessing the feasibility of linkage disequilibrium methods for mapping complex traits: an initial screen for bipolar disorder loci on chromosome 18. Am J Hum Genet 64:1670-1678.
28. Escamilla MA, Mclnnes LA, Service SK, Spesny M, Reus VI, Molina J, et al. (2001a). Genome screening for linkage disequilibrium in a Costa Rican sample of patients with bipolar-1 disorder: a follow-up study on chromosome 18. Am J Med Genet 105:207-213.
29. Escamilla MA, Raventos H, Almasy L, Montero P, Balderas T, Rodriguez S, Levinson D (2001b). Linkage disequilibrium (LD) analysis of schizophrenia (SC) and schizoaffective disorder (SA) in the Costa Rican population: preliminary findings on chromosome 13. Am J Med Genet 105:599 (abstract).
30. Foster MW, Eisenbraun AJ, Carter TH (1997). Communal discourse as a supplement to informed consent for genetic research. Nat Genet 17: 277-279.
31. Freimer NB, Reus VI, Escamilla M, Spesny M, Smith L, Service S, et al. (1996a). An approach to investigating linkage for bipolar disorder using large Costa Rican pedigrees. Am J Med Genet 67:254-263.
32. Freimer NB, Reus VI, Escamilla MA, McInnes LA, Spesny M, Leon P, et al. (1996b). Genetic mapping using haplotype, association and linkage methods suggests a locus for severe bipolar disorder (BP-I) at 18q22-q23. Nat Genet 12:436-442.
33. Garner C, McInnes LA, Service SK, Spesny M, Foumier E, Leon P, Freimer NB (2001). Linkage analysis of a complex pedigree with severe bipolar disorder, using a Markov Chain Monte Carlo method. Am J Hum Genet 68:1061-1064.
34. Giglio S, Broman KW, Matsumoto N, Calvari V, Gimelli G, Neumann T, et al. (2001). Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet 68:874-883.
35. Glantz LH, Annas GJ, Grodin MA, Mariner WK (1998). Research in developing countries: taking 'benefit' seriously. Hastings Cent Rep 28:38-42.
36. Gagnon A, Heyer E (2001). Fragmentation of the Quebec population genetic pool (Canada): evidence from the genetic contribution of founders per region in the 17th and 18th centuries. Am J Phys Anthr 114:30-41.
37. Gordon D, Simonic I, Ott J (2000). Significant evidence for linkage disequilibrium over a 5-cM region among Afrikaners. Genomics 66:87-92.
38. Groenewald JZ, Liebenberg J, Groenewald IM, Wamich L (1998). Linkage disequilibrium analysis in a recently founded population: evaluation of the variegate porphyria founder in South African Afrikaners. Am J Hum Genet 62:1254-1258.
39. Guldberg P, Zschocke J, Dagbjartsson A, Henriksen KF, Guttler F (1997). A molecular survey of phenylketonuria in Iceland: identification of a founding mutation and evidence of predominant Norse settlement. Eur J Hum Genet 5:376-381.
40. Gurling HM, Kalsi G, Brynjolfson J, Sigmundsson T, Sherrington R, Mankoo BS, et al. (2001). Genomewide genetic linkage analysis confirms the presence of susceptibility loci for schizophrenia on chromosomes 1q32.2, 5q33.2, and 8p21-22 and provides support for linkage to schizophrenia on chromosomes 11q23.3-24 and 20q12.1-11.23. Am J Hum Genet 68:661-673.
41. Hakonarson H, Bjornsdottir US, Halapi E, Palsson S, Adalsteinsdottir, E, Gislason D, et al. (2002). A major susceptibility gene for asthma maps to chromosome 14q24. Am J Hum Genet 71:483-491.
42. Hall D, Wijsman EM, Roos JL, Gogos JA, Karayiorgou M (2002). Extended intermarker linkage disequilibrium in the Afrikaners. Genome Res 12:956-961.
43. Hastbacka J, Kerrebrock A, Mokkala K, Clines G, Lovett M, Kaitila I, et al. (1999). Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). Eur J Hum Genet 7:664-670.
44. Helgason A, Sogirpardottir S, Gulcher JR, Ward R, Stefansson K (2000). mtDNA and the origin of the Icelanders: deciphering signals of recent population history. Am J Hum Genet 66:999-1016.
45. Heutink P, van de Wetering BJ, Breedveld GJ, Oostra BA (1992). Genetic study on Tourette syndrome in The Netherlands. Adv Neurol 58:167-172.
46. Houwen RH, Baharloo S, Blankenship K, Raeymaekers P, Juyn J, Sandkuijl LA, Freimer NB (1994). Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. Nat Genet 8:380-386.
47. Jorgensen TH, Degn B, Wang AG, Vang M, Gurling H, Kalsi G, et al. (2002). Linkage disequilibrium and demographic history of the isolated population of the Faroe Islands. Eur J Hum Genet 10:381-387.
48. Katoh T, Mano S, Ikuta T, Munkhbat B, Tounai K, Ando H, et al. (2002). Genetic isolates in East Asia: a study of linkage disequilibrium in the X chromosome. Am J Hum Genet 71:395-400.
49. Ki CS, Na DL, Kim DK, Kim HJ, Kim JW (2002). Genetic association of an apolipoprotein C-I (APOC1) gene polymorphism with late-onset Alzheimer's disease. Neurosci Lett 319:75-78.
50. Kurtz CL, Karolyi L, Seuberth HW, Koch MC, Vargas R, Feldmann D, et al. (1997). A common NKCC2 mutation in Costa Rican Bartter's syndrome patients: evidence for a founder effect. J Am Soc Nephrol 8:1706-1711.
51. Laken SJ, Petersen GM, Gruber SB, Oddoux C, Ostrer H, Giardiello FM, et al. (1997). Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC. Nat Genet 17:79-83.
52. Lee MH, Gordon D, Otto J, Lu K, Ose L, Miettinen T, et al. (2001). Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities. Eur J Hum Genet 9:375-384.
53. Lendon CL, Ashall F, Goate AM (1997). Exploring the etiology of Alzheimer disease using molecular genetics. J Am Med Assoc 277:825-831.
54. Leon P, Raventos H, Lynch E, Morrow J, King MC (1992). The gene for an inherited form of deafness maps to chromosome 5q31. Proc Natl Acad Sci USA 89:5181-5184.
55. Lerer I, Sagi M, Ben-Neriah Z, Wang T, Levi H, Abeliovich D (2001). A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: a novel founder mutation in Ashkenazi Jews. Hum Mutat 18:460-470.
56. Lichtermann D, Karbe E, Maier W (2000). The genetic epidemiology of schizophrenia and of schizophrenia spectrum disorders. Eur Arch Psych Clin Neurosci 250:304-310.
57. Lima M, Mayer FM, Coutinho P, Abade A (1998). Origins of a mutation: population genetics of Machado-Joseph disease in the Azores (Portugal). Hum Biol 70:1011-1023.
58. Lum JK, Cann RL (2000). mtONA lineage analyses: origins and migrations of Micronesians and Polynesians. Am J Phys Anthropol 113:151-168.
59. Madrigal L, Ware B (1997). Inbreeding in Escazu, Costa Rica (1800-1840, 1850-1899): isonymy and ecclesiastical dispensations. Hum Biol 69:703-712.
60. Mahtani MM, Widėn E, Leht M, Thomas J, McCarthy M, Brayer J, et al. (1996). Mapping of a gene for type 2 diabetes associated with an insulin secretion defect by a genome scan in Finnish families. Nat Genet 14:90-94.
61. Mathews CA, Herrera Amighetti LD, Lowe TL, van de Wetering BJM, Freimer NB, Reus VI (2001). Cultural effects on diagnosis and perception of Tourette Syndrome in Costa Rica. J Am Acad Child Adol Psych 40:456-463.
62. Mayeux R, Stern Y, Ottman R, Tatemichi TK, Tan M-X, Naestre G, et al. (1993). The apolipoprotein E4 allele in patients with Alzheimer's disease. Ann Neurol 34:752-754.
63. Mclnnes LA, Escamilla MA, Service SK, Reus VI, Leon PE, Silva S, et al. (1996). A complete genome screen for genes predisposing to severe bipolar disorder in two Costa Rican pedigrees. Proc Natl Acad Sci USA 93:13060-13065.
64. Mclnnes LA, Service SK, Reus VI, Barnes G, Charlat O, Jawahar S, et al. (2001). Fine-scale mapping of a locus for severe bipolar mood disorder on chromosome 18p11.3 in the Costa Rican population. Proc Natl Acad Sci USA 98:11485-11490.
65. McMahon WM, Leppert M, Filloux F, van de Wetering BJM, Hasstedt S (1992). Tourette symptoms in 161 related family members. Adv Neurol 58:159-165.
66. McPherson K, Steel CM, Dixon JM (2000). ABC of breast diseases. Breast cancer-epidemiology, risk factors, and genetics. Br Med J 321:624-628.
67. Meléndez C (1982). Conquistadores y Pobladores. Orígenes Histórico-Sociales de los Costarricenses. Costa Rica: EUNED Press; pp. 48-160.
68. Menashe I, Man O, Lancet D, Gilad Y (2002). Population differences in haplotype structure with a human olfactory receptor gene cluster. Hum Mol Genet 11:1381-1390.
69. Mimmack ML, Ryan M, Baba H, Iritani S, Faull RLM, McKenna PJ, et al. (2002). Gene expression analysis in schizophrenia: reproducible up-regulation of several members of the apolipoprotein L family located in a high-susceptibility locus for schizophrenia on chromosome 22. Proc Natl Acad Sci 99:4680-4685.
70. Mohlke KL, Lange EM, Valle TT, Ghosh S, Magnuson VL, Silander K, et al. (2001). Linkage disequilibrium between microsatellite markers extends beyond 1 cM on chromosome 20 in Finns. Genome Res 11:1221-1226.
71. Molina Jimenez I (1991). Costa Rica 1800-1850: el legado colonial y la genesis del capitalizmo. San Jose: Editorial de la Universidad de Costa Rica; pp. 60-88.
72. Müller HH, Heinimann K, Dobbie Z (2000). Genetics of hereditary colon cancer - a basis for prevention? Eur J Cancer 36:1215-1223.
73. Nasreddine ZS, Loginov M, Clark LN, Lamarche J, Miller BL, Lamontagne A, et al. (1999). From genotype to phenotype: a clinical pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation. Ann Neurol 45:704-715.
74. Nebel A, Filon D, Brinkamann B, Majumder PP, Faerman M, Oppenheim A (2001). The Y chromosome pool of Jews as part of the genetic landscape of the Middle East. Am J Hum Genet 69:1095-1112.
75. Ophoff RA, Escamilla MA, Service SK, Spesny M, Meshi DB, Poon W, et al. (2002). Genomewide linkage disequilibrium mapping of severe bipolar disorder in a population isolate. Am J Hum Genet 71:565-574.
76. Ott J (2000). Predicting the range of linkage disequilibrium. Proc Natl Acad Sci 97:2-3.
77. Pakstis AJ, Heutink P, Pauls DL, Kurlan R, van de Wetering BJM, Leckman JF, et al. (1991). Progress in the search for genetic linkage with Tourette syndrome: an exclusion map covering more than 50% of the autosomal genome. Am J Hum Genet 48:281-294.
78. Passarino G, Underhill PA, Cavalli-Sforza LL, Semino O, Pes GM, Carru C, et al. (2001). Y chromosome binary markers to study the high prevelance of males in Sardinian centenarian and the genetic structure of the Sardinian population. Hum Hered 52:136-139.
79. Pato CN, Azevedo MH, Pato MT, Kennedy JL, Coelho I, Dourado A, et al. (1997). Selection of homogenous populations for genetic study: the Portugal genetics of psychosis project. Neuropsychiatr Genet 74:286-288.
80. Pauls DL, Pakstis AJ, Kurlan R, Kidd KK, Leckman JF, Cohen DJ, et al. (1990). Segregation and linkage analysis of Tourette's syndrome and related disorders. J Am Acad Child Adol Paych 29:195-203.
81. Paunio T, Ekelund J, Varilo T, Parker A, Hovatta I, Turunen JA, et al. (2001). Genome-wide scan in a nationwide study sample of schizophrenia families in Finland reveals susceptibility loci on chromosomes 2q and 5q. Hum Mol Genet 10:3037-3048.
82. Peltonen L (2000). Positional cloning of disease genes: advantages of genetic isolates. Hum Hered 50:66-75.
83. Peltonen L, Jalanko A, Varilo T (1999). Molecular genetics of the Finnish disease heritage. Hum Mol Genet 8:1913-1923.
84. Peltonen L, Palotie A, Lange K (2000). Use of population isolates for mapping complex traits. Nat Rev Genet 1:182-190.
85. Picornell A, Tomas C, Jimenez G, Castro JA, Ramon MM (2002). Jewish population data in 20 polymorphic loci. For Sci Int 125:52-58.
86. Pineda-Trujillo N, Carvajal-Carmona LG, Buriticá O, Moreno S, Uribe C, Pineda D, et al. (2001). A novel cys212tyr founder mutation in parkin and allelic heterogeneity of juvenile parkinsonism in a population from north west Colombia. Neurosci Lett 298:87-90.
87. Pisano M, Cossu A, Persico I, Palmieri G, Angius A, Casu G, et al. (2000). Idenfitication of a founder BRCA2 mutation in Sardinia. Br J Cancer 82:553-559.
88. Prasad C, Johnson JP, Bonnefont JP, Dilling LA, Innes AM, Hworth JC, et al. (2001). Hepatic camitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DMA-based newborn screening program. Mol Genet Met 73:55-63.
89. Risch N, de Leon D, Ozelius L, Kramer P, Almasy L, Singer B, et al. (1995). Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet 9:152-159.
90. Roa BB, Boyd AA, Volcik K, Richards CS (1996). Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet 14:185-187.
91. Sajantila A, Salem AH, Savolainen P, Bauer K, Gierig C, Paabo S (1996). Paternal and maternal DNA lineages reveal a bottleneck in the founding of the Finnish population. Proc Natl Acad Sci USA 93:12035-12039.
92. Santer R, Kinner M, Steuerwald U, Kjaergaard S, Skovby F, Simonsen H, et al. (2001). Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. Eur J Hum Genet 9:388-391.
93. Schwab SG, Eckstein GN, Hallmayer J, Lerer B, Albus M, Borrmann M, et al. (1997). Evidence suggestive of a locus on chromosome 5q31 contributing to susceptibility for schizophrenia in German and Israeli families by multipoint affected sib-pair linkage analysis. Mol Psychiatry 2:156-160.
94. Schwab SG, Knapp M, Mondabon S, Hallmayer J, Borrmann-Hassenbach M, Albus M, et al. (2003). Support for association of schizophrenia with genetic variation in the 6p22.3 gene, dysbindin, in sib-pair families with linkage and in an additional sample of triad families. Am J Hum Genet 72:185-190.
95. Scriver CR (2001). Human genetics: lessons from Quebec populations. Ann Rev Genomics Hum Genet 2:69-101.
96. Service SK, Ophoff RA, Freimer NB (2001). The genome-wide distribution of background linkage disequilibrium in a population isolate. Hum Mol Genet 10:545-551.
97. Shifman S, Darvasi A (2001). The value of isolated populations. Nat Genet 28:309-310.
98. Simonic I, Gericke GS, Ott J, Weber JL (1998). Identification of genetic markers associated with Gilles de la Tourette syndrome in an Afrikaner population. Am J Hum Genet 63:839-846.
99. Simonie I, Nyholt DR, Gericke GS, Gordon D, Matsumoto N, Ledbetter DH, et al. (2001). Further evidence for linkage of Gilles de la Tourette syndrome (GTS) susceptibility loci on chromosomes 2p11, 8q22, and 11q23-24 in South African Afrikaners. Am J Med Genet 105:163-167.
100. Sipila K, Aula P (2002). Database for the mutations of the Finnish disease heritage. Hum Mut 19:16-22.
101. Stefansson H, Sigurdsson E, Steinthorsdottir V, Bjornsdottir S, Sigmundsson T, Ghosh S, et al. (2002). Neuregulin 1 and susceptibility to schizophrenia. Am J Hum Genet 71:877-892.
102. Straub RE, MacLean CJ, O'Neill FA, Walsh D, Kendler KS (1997). Support for a possible schizophrenia vulnerability locus in region 5q22-31 in Irish families. Mol Psychiatry 2:148-155.
103. Straub RE, Jiang Y, MacLean CJ, Ma Y, Webb BT, Myakishev MV et al. (2002). Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia. Am J Hum Genet 71:337-348.
104. Sulisalo T, Francomano CA, Sistonen P, Maher JF, McKusick VA, de la Chapelle A, Kaitila I (1994). High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families. Genomics 20:347-353.
105. Taillon-Milter P, Bauer-Sardiña I, Saccone NL, Putzel J, Laitinen T, Cao A, et al. (2000). Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28. Nat Genet 25:324-328.
106. Takashima M, Ishikawa K, Nagaoka U, Shoji S, Mizusawa H (2001). A linkage disequilibrium at the candidate gene locus for 16-q linked autosomal dominant cerebellar ataxia type III in Japan. J Hum Genet 46:167-171.
107. Thiel BA (1951). Monografia de la Poblacion de la Republics de Costa Rica en el Siglo XIX. San Jose, Costa Rica: Ministerio de Economia y Hacienda, Direccion General de Estadistica y Censos.
108. Thomas EA, Dean B, Pavey G, Sutcliffe JG (2001). Increased CNS levels of apolipoprotein D in schizophrenic and bipolar subjects: implications for the pathophysiology of psychiatric disorders. Proc Natl Acad Sci USA 98:4066-4071.
109. Tourette Syndrome Association International Consortium for Genetics (1999). A complete genome screen in sib pairs affected by Gilles de la Tourette Syndrome. Am J Hum Genet 65:1428-1436.
110. Uhrhammer N, Lange E, Porras O, Naeim A, Chen X, Sheikhavandi S, et al. (1995). Sublocation of an ataxia-teleangiectasia gene distal to D11S384 by ancestral haplotyping in Costa Rican families. Am J Hum Genet 57: 103-111.
111. van Broeckhoven CL (1995). Molecular genetics of Alzheimer Disease: identification of genes and gene mutations. Eur Neurol 35:8-19.
112. Vaessen N, Heutink P, Houwing-Duistermaat JJ, Snijders PJLM, Rademaker T, Testers L, et al. (2002). A genome-wide search for linkage-disequilibrium with type 1 diabetes in a recent genetically isolated population from the Netherlands. Diabetes 51:856-859.
113. Weijer C, Emanuel EJ (2000). Protecting communities in biomedical research. Science 289:1142-1144.
114. Weijer C, Goldsand G, Emanuel EJ (1999). Protecting communities in research: current guidelines and limits of extrapolation. Nat Genet 23:275-280.
115. Weiler T (1998). A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus. Am J Hum Genet 63:140-147.
116. Wilhelmsen KC (1997). Disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) is a non-Alzheimer's frontotemporal dementia. J Neural Transm Suppl 49:269-275.
117. Zhang Z, Ray K, Acland GM, Czarnecki JM, Aguirre GD (2000). Molecular cloning, characterization and expression of a novel retinal clusterin-like protein cDNA. Gene 243:151-160.