Inbreeding among Caribbean Hispanics from the Dominican Republic and its effects on risk of Alzheimer disease

Genetics in Medicine

Volumn 17, Issue 8, 2015, Pages 639-643

  Vardarajan, Badri N ^a,b   Schaid, Daniel J ^c   Reitz, Christiane ^a,b,d,e   Lantigua, Rafael ^a,f   Medrano, Martin ^g   Jiménez Velázquez, Ivonne Z ^h   Lee, Joseph H ^a,b,d   Ghani, Mahdi ^i,j   Rogaeva, Ekaterina ^i,j   St George Hyslop, Peter ^i,j,k   Mayeux, Richard P ^a,b,d,e  

^a NewYork Presbyterian Hospital   (United States)

^b Vagelos College of Physicians and Surgeons   (United States)

^c MAYO CLINIC   (United States)

^d University of Puerto Rico ^*  (United States)

^e Och Spine at New York Presbyterian Hospitals   (United States)

^f University of Cambridge ^*  (United States)

^g Pontificia Universidad Catolica Madre y Maestra   (Dominican Republic)

^h UNIVERSITY OF PUERTO RICO SCHOOL OF MEDICINE   (Puerto Rico)

ⁱ UNIVERSITY OF TORONTO   (Canada)

^j UNIVERSITY OF TORONTO   (Canada)

^k UNIVERSITY OF CAMBRIDGE   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

AGED; ALZHEIMER DISEASE; ARTICLE; CARIBBEAN; CONSANGUINEOUS MARRIAGE; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DNA MICROARRAY; DOMINICAN REPUBLIC; FEMALE; GENETIC ASSOCIATION; GENOTYPE; HAPLOTYPE MAP; HISPANIC; HOMOZYGOSITY; HUMAN; INBREEDING; MAJOR CLINICAL STUDY; MALE; SINGLE NUCLEOTIDE POLYMORPHISM; VERY ELDERLY; CASE CONTROL STUDY; CONSANGUINITY; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; MIDDLE AGED; RISK FACTOR;

AGED; AGED, 80 AND OVER; ALZHEIMER DISEASE; CASE-CONTROL STUDIES; CONSANGUINITY; DOMINICAN REPUBLIC; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HISPANIC AMERICANS; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 84938678855     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.161     Document Type: Article

References (36)

1. Bittles AH, Neel JV. The costs of human inbreeding and their implications for variations at the DNA level. Nat Genet 1994; 8: 117-121
2. Charlesworth B, Charlesworth D. The genetic basis of inbreeding depression. Genet Res 1999; 74: 329-340
3. Bittles AH, Savithri HS, Venkatesha Murthy H, et al. Consanguineous marriage, a familiar story full of surprises. In: Macbeth H and Shetty P (eds.). Health and Ethnicity. Taylor & Francis: London, 2001: 68-78
4. Wright AF, Hastie ND. Complex genetic diseases: controversy over the Croesus code. Genome Biol 2001; 2: COMMENT2007
5. Bittles AH, Mason WM, Greene J, Rao NA. Reproductive behavior and health in consanguineous marriages. Science 1991; 252: 789-794
6. Bittles AH, Black ML. The impact of consanguinity on neonatal and infant health. Early Hum Dev 2010; 86: 737-741
7. Charlesworth B, Hughes KA. Age-specific inbreeding depression and components of genetic variance in relation to the evolution of senescence. Proc Natl Acad Sci USA 1996; 93: 6140-6145
8. Hughes KA, Alipaz JA, Drnevich JM, Reynolds RM. A test of evolutionary theories of aging. Proc Natl Acad Sci USA 2002; 99: 14286-14291
9. Assié G, LaFramboise T, Platzer P, Eng C. Frequency of germline genomic homozygosity associated with cancer cases. JAMA 2008; 299: 1437-1445
10. Bacolod MD, Schemmann GS, Wang S, et al. The signatures of autozygosity among patients with colorectal cancer. Cancer Res 2008; 68: 2610-2621
11. Enciso-Mora V, Hosking FJ, Houlston RS. Risk of breast and prostate cancer is not associated with increased homozygosity in outbred populations. Eur J Hum Genet 2010; 18: 909-914
12. Hosking FJ, Papaemmanuil E, Sheridan E, et al. Genome-wide homozygosity signatures and childhood acute lymphoblastic leukemia risk. Blood 2010; 115: 4472-4477
13. Siraj AK, Khalak HG, Sultana M, et al. Colorectal cancer risk is not associated with increased levels of homozygosity in Saudi Arabia. Genet Med 2012; 14: 720-728
14. Spain SL, Cazier JB, Houlston R, Carvajal-Carmona L, Tomlinson I; CORGI Consortium. Colorectal cancer risk is not associated with increased levels of homozygosity in a population from the United Kingdom. Cancer Res 2009; 69: 7422-7429
15. Wingo TS, Lah JJ, Levey AI, Cutler DJ. Autosomal recessive causes likely in earlyonset Alzheimer disease. Arch Neurol 2012; 69: 59-64
16. Farrer LA, Bowirrat A, Friedland RP, Waraska K, Korczyn AD, Baldwin CT. Identification of multiple loci for Alzheimer disease in a consanguineous Israeli-Arab community. Hum Mol Genet 2003; 12: 415-422
17. Sherva R, Baldwin CT, Inzelberg R, et al. Identification of novel candidate genes for Alzheimers disease by autozygosity mapping using genome wide SNP data. J Alzheimers Dis 2011; 23: 349-359
18. Vézina H, Heyer E, Fortier I, Ouellette G, Robitaille Y, Gauvreau D. A genealogical study of Alzheimer disease in the Saguenay region of Quebec. Genet Epidemiol 1999; 16: 412-425
19. Ghani M, Sato C, Lee JH, et al. Evidence of recessive Alzheimer disease loci in a Caribbean Hispanic data set: genome-wide survey of runs of homozygosity. JAMA Neurol 2013; 70: 1261-1267
20. Curtis D, Vine AE, Knight J. Study of regions of extended homozygosity provides a powerful method to explore haplotype structure of human populations. Ann Hum Genet 2008; 72(Pt 2): 261-278
21. Nalls MA, Guerreiro RJ, Simon-Sanchez J, et al. Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimers disease. Neurogenetics 2009; 10: 183-190
22. Vardarajan BN, Faber KM, Bird TD, et al. Age-specific incidence rates for dementia and Alzheimer disease in NIA-LOAD/NCRAD and EFIGA families: National Institute on Aging Genetics Initiative for Late-Onset Alzheimer Disease/National Cell Repository for Alzheimer Disease (NIA-LOAD/NCRAD) and Estudio Familiar de Influencia Genetica en Alzheimer (EFIGA). JAMA Neurol 2014; 71: 315-323
23. Tang MX, Stern Y, Marder K, et al. The APOE-epsilon4 allele and the risk of Alzheimer disease among African Americans, whites, and Hispanics. JAMA 1998; 279: 751-755
24. Romas SN, Santana V, Williamson J, et al. Familial Alzheimer disease among Caribbean Hispanics: a reexamination of its association with APOE. Arch Neurol 2002; 59: 87-91
25. McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM. Clinical diagnosis of Alzheimers disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimers Disease. Neurology 1984; 34: 939-944
26. Lee JH, Cheng R, Barral S, et al. Identification of novel loci for Alzheimer disease and replication of CLU, PICALM, and BIN1 in Caribbean Hispanic individuals. Arch Neurol 2011; 68: 320-328
27. Laurie CC, Doheny KF, Mirel DB, et al.; GENEVA Investigators. Quality control and quality assurance in genotypic data for genome-wide association studies. Genet Epidemiol 2010; 34: 591-602
28. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81: 559-575
29. Yang J, Lee SH, Goddard ME, Visscher PM. GCTA: a tool for genome-wide complex trait analysis. Am J Hum Genet 2011; 88: 76-82
30. Thornton T, Tang H, Hoffmann TJ, Ochs-Balcom HM, Caan BJ, Risch N. Estimating kinship in admixed populations. Am J Hum Genet 2012; 91: 122-138
31. Alexander DH, Novembre J, Lange K. Fast model-based estimation of ancestry in unrelated individuals. Genome Res 2009; 19: 1655-1664
32. Rudan I, Rudan D, Campbell H, et al. Inbreeding and risk of late onset complex disease. J Med Genet 2003; 40: 925-932
33. Bittles AH. Consanguineous Marriage: Current Global Incidence and Its Relevance to Demographic Research. University of Michigan: Ann Arbor, MI, 1990
34. Thompson MW, McInnes RR, Willard HF. Thompson and Thompson: Genetics in Medicine. WB Saunders: Toronto, Canada, 1991
35. Sims R, Dwyer S, Harold D, et al. No evidence that extended tracts of homozygosity are associated with Alzheimers disease. Am J Med Genet B Neuropsychiatr Genet 2011; 156B: 764-771
36. Sebat J, Levy DL, McCarthy SE. Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders. Trends Genet 2009; 25: 528-535