Consanguinity, human evolution, and complex diseases

Proceedings of the National Academy of Sciences of the United States of America

Volumn 107, Issue SUPPL. 1, 2010, Pages 1779-1786

  Bittles, A H ^a,b   Black, M L ^a  

^a MURDOCH UNIVERSITY   (Australia)

^b EDITH COWAN UNIVERSITY   (Australia)

Author keywords

Community genetics; Health; Inbreeding; Reproduction; Social structure

Indexed keywords

AFRICA SOUTH OF THE SAHARA; ASIA; CHILDHOOD MORTALITY; CONFERENCE PAPER; CONSANGUINEOUS MARRIAGE; CONSANGUINITY; DEMOGRAPHY; ECONOMIC ASPECT; EDUCATIONAL STATUS; EVOLUTION; FAMILY SIZE; FEMALE; GENERAL ASPECTS OF DISEASE; GENETIC ANALYSIS; GENETIC VARIABILITY; GEOGRAPHIC DISTRIBUTION; HEALTH CARE ACCESS; HOMOZYGOSITY; HUMAN; INBREEDING; INFANT; INFANT MORTALITY; MIDDLE EAST; MORBIDITY; MORTALITY; OUTCOME ASSESSMENT; POPULATION GENETICS; POPULATION REGULATION; PRIORITY JOURNAL; PROGENY; RECESSIVE INHERITANCE; SOCIAL ASPECT; URBANIZATION; FETUS DEATH; GENETIC DISORDER; MALE; MARRIAGE; NEWBORN; RELIGION; REVIEW; STATISTICS;

CONSANGUINITY; EVOLUTION; FEMALE; FETAL DEATH; GENETIC DISEASES, INBORN; HUMANS; INFANT MORTALITY; INFANT, NEWBORN; MALE; MARRIAGE; RELIGION;

EID: 76549106642     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0906079106     Document Type: Article

References (112)

1. Harpending HC, et al. (1998) Genetic traces of ancient demography. Proc Natl Acad Sci USA 95:1961-1967.
2. Tenesa A, et al. (2007) Recent human effective population size estimated from linkage disequilibrium. Genome Res 17:520-526.
3. Liu H, Prugnolle F, Manica A, Balloux F (2006) A geographically explicit genetic map of worldwide human-settlement history. Am J Hum Genet 79:230-237.
4. Zhivotovsky LA, Rosenberg NA, Feldman MW (2003) Features of evolution and expansion of modern humans, inferred from genomewide microsatellite markers. Am J Hum Genet 72:1171-1186.
5. Ottenheimer M (1996) Forbidden Relatives: The American Myth of Cousin Marriage (Univ Illinois Press, Urbana), pp 19-41.
6. Bittles AH (2003) The bases of Western attitudes to consanguineous marriage. Dev Med Child Neurol 45:135-138.
7. Darwin C (1862) On the Various Contrivances by Which British and Foreign Orchids Are Fertilized by Insects, and on the Good Effects of Intercrossing (John Murray, London), pp 359-360.
8. Darwin GH (1875) Marriages between first cousins in England and Wales and their effects. J Stat Soc 38:153-184.
9. Darwin C (1876) The Effects of Cross and Self-Fertilization in the Vegetable Kingdom (John Murray, London), pp 460-461.
10. Goody J (1985) The Development of the Family and Marriage in Europe (Cambridge Univ Press, Cambridge, UK), pp 48-60 and 134-146.
11. Bede (1991) The Ecclesiastical History of the English People (Penguin Books, London), Revised Ed, pp 79-81.
12. Bittles AH, Grant JC, Sullivan SG, Hussain R (2002) Does inbreeding lead to increased human fertility? Ann Hum Biol 29:111-131.
13. Cavalli-Sforza LL, Moroni A, Zei G (2004) Consanguinity, Inbreeding, and Genetic Drift in Italy (Princeton Univ Press, Princeton).
14. Hussain R (1999) Community perceptions of reasons for preference for consanguineous marriages in Pakistan. J Biosoc Sci 31:449-461.
15. Bittles AH, Hamamy HA (2009) Consanguinity and endogamy in Arab countries. Genetic Disorders among Arab Populations, ed Teebi A (Springer, Heidelberg), 2nd Ed, in press.
16. Kapadia KM (1958) Marriage and the Family in India (Oxford Univ Press, Calcutta), 2nd Ed, pp 117-137.
17. Bittles AH (2002) Endogamy, consanguinity, and community genetics. J Genet 81:91-98.
18. Bittles AH (2009) Consanguinity, genetic drift, and genetic diseases in populations with reduced numbers of founders. Human Genetics: Principles and Approaches, eds Vogel F, Motulsky AG, Antonarakis SE, Speicher M (Springer, Heidelberg), 4th Ed, in press.
19. Bittles AH (2008) A community genetics perspective on consanguineous marriage. Commun Genet 11:324-330.
20. Paul DB, Spencer HG (2008) "It's OK, we're not cousin by blood": The cousin marriage controversy in historical perspective. PLoS Biol 6:e320.
21. National Conference of Commissioners (1970) Handbook on Uniform State Laws and Proceedings of the Annual Conference Meeting in its Seventy-Ninth Year (Port City Press, Baltimore).
22. Dyer O (2005) MP is criticized for saying that marriage of first cousins is a health risk. Br Med J 331:1292.
23. Grjibovski AM, Magnus P, Stoltenberg C (2009) Decrease in consanguinity among parents of children born in Norway to women of Pakistani origin: A registry-based study. Scand J Pub Health 37:232-238.
24. Shaw A (2000) Kinship, cultural preference, and immigration: Consanguineous marriage among British Pakistanis. J R Anthropol Inst 7:315-334.
25. Reniers G (1998) Postmigration Survival of Traditional Marriage Patterns: Consanguineous Marriage Among Turkish and Moroccan Immigrants in Belgium (Department of Population Studies, University of Gent, Gent, Belgium), Interuniversity Papers in Demography, PPD-1 Working Paper 1998-1.
26. Ozand PT, et al. (1990) Prevalence of different types of lysosomal storage diseases in Saudi Arabia. J Inherit Metab Dis 13:849-861.
27. Ozand PT, Devol EB, Gascon GG (1992) Neuro-metabolic diseases at a national referral center: Five years experience at the King Faisal Specialist Hospital and Research Centre. J Child Neurol 7 (Suppl): S4-S11.
28. Rashed M, Ozand PT, Al Aqeel A, Gascon GG (1994) Experience of King Faisal Specialist Hospital and Research Center with Saudi organic acid disorders. Brain Dev 16 (Suppl): 1-6.
29. Zlotogora J, et al. (2005) The origin and expansion of four different β-globin mutations in a single Arab village. Am J Hum Biol 17:659-661.
30. Miller EN, et al. (2007) Y chromosome lineage- and village-specific genes on chromosomes 1p22 and 6q27 control visceral leishmaniasis in Sudan. PLoS Genet 3:e71.
31. Zlotogora J, Hujerat Y, Barges S, Shalev SA, Chakravarti A (2006) The fate of 12 recessive mutations in a single village. Ann Hum Genet 71:202-208.
32. Heiman GA, Hodge SE, Gorroochurn P, Zhang J, Greenberg DA (2004) Effect of population stratification on case-control association studies. Hum Hered 58:30-39.
33. Wang K (2009) Testing for genetic association in the presence of population stratification in genomewide association studies. Genet Epidemiol, in press.
34. The Wellcome Trust Case Control Consortium (2007) Genomewide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447:661-678.
35. Helgason A, Yngvadóttir B, Hrafnkelsson B, Gulcher J, Stefánsson K (2005) An Icelandic example of the impact of population structure on association studies. Nat Genet 37:90-95.
36. Rosenberg NA, et al. (2002) Genetic structure of human population. Science 298:2381-2385.
37. Rajab A, Patton MA (1997) Major factors determining the frequencies of hemoglobinopathies in Oman. Am J Med Genet 71:240-242.
38. Rajab A, Patton MA (1999) Analysis of the population structure in Oman. Commun Genet 2:23-25.
39. Strømme P, et al. (2009) Parental consanguinity is associated with a 7-fold increased risk of progressive encephalopathy: A cohort study from Oslo, Norway. Eur J Paed Neurol, in press.
40. Bittles AH, Mason WH, Greene J, Appaji Rao N (1991) Reproductive behavior and health in consanguineous marriages. Science 252:789-794.
41. Bittles AH (1994) The role and significance of consanguinity as a demographic variable. Pop Dev Rev 20:561-584.
42. Khlat M (1997) Endogamy in Arab countries. Genetic Disorders Among Arab Populations, eds Teebi A, Farag TI (Oxford Univ Press, New York), pp 63-80.
43. Shiloh S, Reznik H, Bat-Miriam-Katznelson M, Goldman B (1995) Premarital genetic counseling to consanguineous couples: Attitudes, beliefs, and decisions among counseled, noncounseled, and unrelated couples in Israel. Soc Sci Med 41:1301-1310.
44. Raz AE, Atar M (2004) Cousin marriage and premarital carrier matching in a Bedouin community in Israel: Attitudes, service development, and educational intervention. J Fam Planning Reprod Health Care 30:49-51.
45. Zlotogora J, Carmi R, Lev B, Shalev SA (2009) A targeted population carrier screening program for severe and frequent genetic diseases in Israel. Eur J Hum Genet 17:591-597.
46. Al Arrayed S (2005) Campaign to control genetic blood diseases in Bahrain. Commun Genet 8:52-55.
47. Hamamy H, Bittles AH (2009) Genetic clinics in Arab communities: Meeting individual, family, and community needs. Pub Health Genomics 12:30-40.
48. Eldahdah L, et al. (2007) Outcome of chromosomally abnormal pregnancies in Lebanon: Obstetricians' roles during and after prenatal diagnosis. Prenat Diagn 27:525-534.
49. Bittles AH, Neel JV (1994) The costs of human inbreeding and their implications for variations at the DNA level. Nat Genet 8:117-121.
50. Bittles AH, Makov E (1988) Inbreeding in human populations: An assessment of the costs. Human Mating Patterns, eds Mascie-Tyalor CGN, Boyce AJ (Cambridge Univ Press, Cambridge, UK), pp 153-167.
51. Bundey S, Alam H (1993) A 5-year prospective study of the health of children in different ethnic groups, with particular reference to the effect on inbreeding. Eur J Hum Genet 1:206-219.
52. Christianson A, Howson CP, Modell B (2006) Global Report on Birth Defects (March of Dimes, White Plains, NY), pp 83-84.
53. Hussain R, Bittles AH (1998) The prevalence and demographic characteristics of consanguineous marriages in Pakistan. J Biosoc Sci 30:261-275.
54. Wang W, et al. (2000) A genome-based study of consanguinity in three coresident endogamous Pakistan communities. Ann Hum Genet 64:41-49.
55. Qamar R, et al. (2002) Y-chromosomal DNA variation in Pakistan. Am J Hum Genet 70:1107-1124.
56. Overall ADJ, Ahmad M, Thomas MG, Nichols RA (2003) An analysis of consanguinity and social structure within the U.K. Asian population using microsatellite data. Ann Hum Genet 67:525-537.
57. Overall ADJ (2009) The influence of the Wahlund effect on the consanguinity hypothesis: Consequences for recessive disease incidence in a socially structured Pakistani population. Hum Hered 67:140-144.
58. Schork NJ, Murray SS, Frazer KA, Topol EJ (2009) Common vs. rare allele hypotheses for complex diseases. Curr Opin Genet Dev 19:212-219.
59. Estevill X, Armengol L (2007) Copy number variants and common disorders: Filling the gaps and exploring complexity in genomewide association studies. PLoS Genet 3:e190.
60. Need AC, et al. (2009) A genomewide investigation of SNPs and CNVs in schizophrenia. PLoS Genet 5:e1000373.
61. Todd JA, et al. (2007) Robust associations of four new chromosome regions from genomewide analyses of type 1 diabetes. Nat Genet 39:813-815.
62. Lyssenko V, et al. (2008) Clinical risk factors, DNA variants, and the development of type 2 diabetes. N Engl J Med 359:2220-2232.
63. Li B, Leal SM (2009) Discovery of rare variants via sequencing: Implications for the design of complex trait association studies. PLoS Genet 5:e1000481.
64. Schull WJ (1958) Empirical risks in consanguineous marriages: Sex ratio, malformation, and viability. Am J Hum Genet 10:294-343.
65. Jaber L, Merlob P, Bu X, Rotter JI, Shohat M (1992) Marked parental consanguinity as a cause for increased major malformations in an Israeli Arab community. Am J Med Genet 44:1-6.
66. Stoltenberg C, Magnus P, Lie TR, Daltveit AK, Irgens LM (1997) Birth defects and parental consanguinity in Norway. Am J Epidemiol 145:439-448.
67. Zlotogora J (2002) What is the birth defect risk associated with consanguineous marriage? Am J Med Genet 109:70-71.
68. Bromiker R, Glam-Baruch M, Gofin R, Hammerman C, Amitai Y (2004) Association of parental consanguinity with congenital malformations among Arab newborns in Jerusalem. Clin Genet 66:63-66.
69. Rittler M, Liascovich R, López-Camelo J, Castilla EE (2001) Parental consanguinity in specific types of congenital anomalies. Am J Med Genet 102:36-43.
70. Pierpont ME, et al. (2007) Genetic basis for congenital heart defects: Current knowledge. Circulation 115:3015-3038.
71. Gnanalingham MG, Gnanalingham KK, Singh A (1999) Congenital heart disease and parental consanguinity in South India. Acta Paediatr 88:473-474.
72. Becker SM, Al Halees Z, Molina C, Paterson RM (2001) Consanguinity and congenital heart disease in Saudi Arabia. Am J Med Genet 99:8-13.
73. Nabulsi MM, et al. (2003) Parental consanguinity and congenital heart malformations in a developing country. Am J Med Genet 116A:342-347.
74. Khalid Y, et al. (2006) Consanguineous marriage and congenital defects: A case-control study in the neonatal period. Am J Med Genet 140:1524-1530.
75. Shami SA, Qaisar R, Bittles AH (1991) Consanguinity and adult morbidity in Pakistan. Lancet 338:954-955.
76. Liede A, et al. (2002) Contribution of BRAC1 and BRAC2 mutations of breast and ovarian cancer in Pakistan. Am J Hum Genet 71:595-606.
77. Denic S, Bener A (2001) Consanguinity decreases risk of breast cancer: Cervical cancer unaffected. Br J Cancer 85:1675-1679.
78. Ismail J, et al. (2004) Risk factors for nonfatal myocardial infarction in young South Asian adults. Heart 90:259-263.
79. Jaber L, Shohat T, Rotter JI, Shohat M (1997) Consanguinity and common adult diseases in Israeli Arab communities. Am J Med Genet 70:346-348.
80. Rudan I, et al. (2003) Inbreeding and the genetic complexity of human hypertension. Genetics 163:1011-1021.
81. Rudan I, et al. (2003) Inbreeding and risk of late-onset complex disease. J Med Genet 40:925-932.
82. Rudan I, et al. (2004) Inbreeding and susceptibility to osteoporosis in Croatian island isolates. Coll Antropol 28:585-602.
83. Campbell H, et al. (2007) Effects of genomewide heterozygosity on a range of biomedically relevant human quantitative traits. Hum Mol Genet 16:233-241.
84. McQuillan R, et al. (2008) Runs of homozygosity in European populations. Am J Hum Genet 83:359-372.
85. Nalls MA, et al. (2009) Measures of autozygosity in decline: Globalization, urbanization, and its implications for medical genetics. PLoS Genet 5:e1000415.
86. Lichenstein P, et al. (2009) Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: A population-based study. Lancet 373:234-239.
87. The International Schizophrenia Consortium (2009) Common polygenic variation contributes to risk of schizophrenia and bipolar disease. Nature 460:748-752.
88. Morrow EM, et al. (2008) Identifying autism loci and genes by tracing recent shared ancestry. Science 321:218-223.
89. Mansour H, et al. (2009) Consanguinity associated with increased risk for bipolar I disorder in Egypt. Am J Med Genet B Neuropsychiatr Genet 150:879-885.
90. Lencz T, et al. (2007) Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia. Proc Natl Acad Sci USA 104:19942-19947.
91. Vézina H, et al. (1999) A genealogical study of Alzheimer disease in the Saguenay region of Québec. Genet Epidemiol 16:412-425.
92. Farrer LA, et al. (2003) Identification of multiple loci for Alzheimer disease in a consanguineous Israeli-Arab community. Hum Mol Genet 12:415-422.
93. Hussien FH (1971) Endogamy in Egyptian Nubia. J Biosoc Sci 3:251-257.
94. Assaf S, Khawaja M (2009) Consanguinity trends and correlates in the Palestinian Territories. J Biosoc Sci 41:107-124.
95. Clark CJ, Hill A, Jabber K, Silverman JG (2009) Violence during pregnancy in Jordan: Its prevalence and associated risk and protective factors. Violence Against Women 15:720-735.
96. Bittles AH (2001) Consanguinity and its relevance to clinical genetics. Clin Genet 60:89-98.
97. Bittles AH (2005) Endogamy, consanguinity, and community disease profiles. Commun Genet 8:17-20.
98. Shaw A, Hurst JA (2009) "I don't see any point in telling them": Attitudes to sharing genetic information in the family and carrier testing of relatives among British Pakistani adults referred to a genetics clinic. Ethn Health 14:205-224.
99. Jalili IK, Smith NJD (1988) A progressive cone-rod dystrophy and amelogenesis imperfecta: A new syndrome. J Med Genet 25:738-740.
100. Basel-Vanagaite L, et al. (2007) Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel. Eur J Hum Genet 15:250-253.
101. Voight BF, Kudaravalli S, Wen X, Pritchard JK (2006) A map of recent positive selection in the human genome. PLoS Biol 4:e72.
102. Sabeti PC, et al. (2007) Genomewide detection and characterization of positive selection in human populations. Nature 449:913-918.
103. Williamson SH, et al. (2007) Localizing recent adaptive evolution in the human genome. PLoS Genet 3:e90.
104. Hawks J, Wang ET, Cochran GM, Harpending HC, Moyzis RK (2007) Recent acceleration of human adaptive evolution. Proc Natl Acad Sci USA 104:20753-20758.
105. Varilo T, Peltonen L (2004) Isolates and their potential use in complex gene mapping efforts. Curr Opin Genet Dev 14:316-323.
106. Zlotogora J, Shalev S, Habiballah H, Barjes S (2000) Genetic disorders among Palestinian Arabs: 3. Autosomal recessive disorders in a single village. Am J Med Genet 92:343-345.
107. Zlotogora J (2007) Multiple mutations responsible for frequent genetic diseases in isolated populations. Eur J Hum Genet 15:272-278.
108. Bonnen PE, et al. (2006) Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia. Nat Genet 38:214-217.
109. Lowe JK, et al. (2009) Genomewide association studies in an isolated founder population from the Pacific island of Kosrae. PLoS Genet 5:e10000365.
110. Auton A, et al. (2009) Global distribution of genomic diversity underscores rich complex history of continental human populations. Genome Res 19:795-803.
111. Lyons EJ, Frodsham AJ, Zhang L, Hill AVS, Amos W (2009) Consanguinity and susceptibility to infectious diseases in humans. Biol Lett 5:574-576.
112. Crimmins EM, Finch CE (2006) Infection, height, and longevity. Proc Natl Acad Sci USA 103:498-503.