Testing for Non-Random Mating: Evidence for Ancestry-Related Assortative Mating in the Framingham Heart Study

被引:33
作者
Sebro, Ronnie [1 ,2 ]
Hoffman, Thomas J. [1 ]
Lange, Christoph [3 ,4 ,5 ]
Rogus, John J. [6 ]
Risch, Neil J. [1 ,7 ,8 ]
机构
[1] Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA
[2] Univ Calif San Francisco, Dept Radiol & Biomed Imaging, San Francisco, CA 94143 USA
[3] Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USA
[4] Univ Bonn, Inst Genom Math, D-5300 Bonn, Germany
[5] German Ctr Neurodegenerat Dis DZNE, Bonn, Germany
[6] Joslin Diabet Ctr, Sect Genet & Epidemiol, Boston, MA 02215 USA
[7] Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94143 USA
[8] Kaiser Permanente, Div Res, Oakland, CA USA
关键词
population stratification; non-random mating; Hardy-Weinberg equilibrium; HARDY-WEINBERG EQUILIBRIUM; GENOME-WIDE ASSOCIATION; GENOTYPING ERRORS; STRATIFICATION; POPULATION;
D O I
10.1002/gepi.20528
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Population stratification leads to a predictable phenomenon-a reduction in the number of heterozygotes compared to that calculated assuming Hardy-Weinberg Equilibrium (HWE). We show that population stratification results in another phenomenon-an excess in the proportion of spouse-pairs with the same genotypes at all ancestrally informative markers, resulting in ancestrally related positive assortative mating. We use principal components analysis to show that there is evidence of population stratification within the Framingham Heart Study, and show that the first principal component correlates with a North-South European cline. We then show that the first principal component is highly correlated between spouses (r = 0.58, p = 0.0013), demonstrating that there is ancestrally related positive assortative mating among the Framingham Caucasian population. We also show that the single nucleotide polymorphisms loading most heavily on the first principal component show an excess of homozygotes within the spouses, consistent with similar ancestry-related assortative mating in the previous generation. This nonrandom mating likely affects genetic structure seen more generally in the North American population of European descent today, and decreases the rate of decay of linkage disequilibrium for ancestrally informative markers. Genet. Epidemiol. 34:674-679, 2010. (C) 2010 Wiley-Liss, Inc.
引用
收藏
页码:674 / 679
页数:6
相关论文
共 16 条
[1]   Panmixia postponed: ancestry-related assortative mating in contemporary human populations [J].
Burrell, Andrew S. ;
Disotell, Todd R. .
GENOME BIOLOGY, 2009, 10 (11)
[2]   Demonstrating stratification in a European American population [J].
Campbell, CD ;
Ogburn, EL ;
Lunetta, KL ;
Lyon, HN ;
Freedman, ML ;
Groop, LC ;
Altshuler, D ;
Ardlie, KG ;
Hirschhorn, JN .
NATURE GENETICS, 2005, 37 (08) :868-872
[3]  
COTTERMAN CW, 1937, GENETICA, V19, P537
[4]  
CUPPLES LA, BMC MED GENET S1, V8, pS1
[5]  
DAWBER T. R., 1957, AMER JOUR PUBL HEALTH, V47, P4, DOI 10.2105/AJPH.47.4_Pt_2.4
[6]   Genomic control for association studies [J].
Devlin, B ;
Roeder, K .
BIOMETRICS, 1999, 55 (04) :997-1004
[7]  
Elandt-Johnson R.C., 1971, PROBABILITY MODELS S
[8]   AN EXACT TEST FOR RANDOMNESS OF MATING [J].
HALDANE, JBS .
JOURNAL OF GENETICS, 1954, 52 (03) :631-635
[9]   Detection of genotyping errors by Hardy-Weinberg equilibrium testing [J].
Hosking, L ;
Lumsden, S ;
Lewis, K ;
Yeo, A ;
McCarthy, L ;
Bansal, A ;
Riley, J ;
Purvis, I ;
Xu, CF .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2004, 12 (05) :395-399
[10]   Detection of genotyping errors and pseudo-SNPs via deviations from Hardy-Weinberg equilibrium [J].
Leal, SM .
GENETIC EPIDEMIOLOGY, 2005, 29 (03) :204-214