Sex-specific genetic architecture of human disease (original) (raw)

• Alonso, L. C. & Rosenfield, R. L. Oestrogens and puberty. Best Pract. Res. Clin. Endocrinol. Metab. 16, 13–30 (2002).
  Article CAS PubMed Google Scholar
• Carrel, L. & Willard, H. F. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 434, 400–404 (2005).
  Article CAS PubMed Google Scholar
• Korstanje, R. et al. Influence of sex and diet on quantitative trait loci for HDL cholesterol levels in an SM/J by NZB/BlNJ intercross population. J. Lipid Res. 45, 881–888 (2004).
  Article CAS PubMed Google Scholar
• Mackay, T. F. The genetic architecture of quantitative traits: lessons from Drosophila. Curr. Opin. Genet. Dev. 14, 253–257 (2004). A classic review of gene–environment (including genotype–sex) interactions in Drosophila.
  Article CAS PubMed Google Scholar
• Ueno, T. et al. Rat model of familial combined hyperlipidemia as a result of comparative mapping. Physiol. Genomics 17, 38–47 (2004).
  Article CAS PubMed Google Scholar
• Choi, B. G. & McLaughlin, M. A. Why men's hearts break: cardiovascular effects of sex steroids. Endocrinol. Metab. Clin. North Am. 36, 365–377 (2007).
  Article CAS PubMed Google Scholar
• Postma, D. S. Gender differences in asthma development and progression. Gend. Med. 4 (Suppl. B), S133–S146 (2007).
  Article PubMed Google Scholar
• Lockshin, M. D. Sex differences in autoimmune disease. Lupus 15, 753–756 (2006).
  Article CAS PubMed Google Scholar
• Harper, P. S. Practical Genetic Counseling 5th edn (Reed Educational and Professional Publishing, Oxford, 1998).
  Google Scholar
• Gater, R. et al. Sex differences in the prevalence and detection of depressive and anxiety disorders in general health care settings: report from the World Health Organization Collaborative Study on Psychological Problems in General Health Care. Arch. Gen. Psychiatry 55, 405–413 (1998).
  Article CAS PubMed Google Scholar
• Andersen, K. et al. Gender differences in the incidence of AD and vascular dementia: The EURODEM Studies. EURODEM Incidence Research Group. Neurology 53, 1992–1997 (1999).
  Article CAS PubMed Google Scholar
• Aleman, A., Kahn, R. S. & Selten, J. P. Sex differences in the risk of schizophrenia: evidence from meta-analysis. Arch. Gen. Psychiatry 60, 565–571 (2003).
  Article PubMed Google Scholar
• Wooten, G. F., Currie, L. J., Bovbjerg, V. E., Lee, J. K. & Patrie, J. Are men at greater risk for Parkinson's disease than women? J. Neurol. Neurosurg. Psychiatry 75, 637–639 (2004).
  Article CAS PubMed PubMed Central Google Scholar
• Matanoski, G., Tao, X. G., Almon, L., Adade, A. A. & Davies-Cole, J. O. Demographics and tumor characteristics of colorectal cancers in the United States, 1998–2001. Cancer 107, 1112–1120 (2006).
  Article PubMed Google Scholar
• Patsopoulos, N. A., Tatsioni, A. & Ioannidis, J. P. Claims of sex differences: an empirical assessment in genetic associations. JAMA 298, 880–893 (2007). A comprehensive review and critique of the evidence for sex-specific genetic effects on risk for common diseases.
  Article CAS PubMed Google Scholar
• Barrett-Connor, E. Commentary: masculinity, femininity and heart disease. Int. J. Epidemiol. 36, 621–622 (2007).
  Article PubMed Google Scholar
• Uekert, S. J. et al. Sex-related differences in immune development and the expression of atopy in early childhood. J. Allergy Clin. Immunol. 118, 1375–1381 (2006).
  Article CAS PubMed Google Scholar
• Whitacre, C. C., Reingold, S. C. & O'Looney, P. A. A gender gap in autoimmunity. Science 283, 1277–1278 (1999).
  Article CAS PubMed Google Scholar
• Straub, R. H. The complex role of estrogens in inflammation. Endocr. Rev. 28, 521–574 (2007).
  Article CAS PubMed Google Scholar
• Dobyns, W. B. et al. Inheritance of most X-linked traits is not dominant or recessive, just X-linked. Am. J. Med. Genet. A 129A, 136–143 (2004).
  Article PubMed Google Scholar
• Lahn, B. T. & Page, D. C. Functional coherence of the human Y chromosome. Science 278, 675–680 (1997).
  Article CAS PubMed Google Scholar
• Lange, J., Skaletsky, H., Bell, G. W. & Page, D. C. MSY Breakpoint Mapper, a database of sequence-tagged sites useful in defining naturally occurring deletions in the human Y chromosome. Nucleic Acids Res. 36, D809–814 (2008).
  Article CAS PubMed Google Scholar
• Reinius, B. et al. An evolutionarily conserved sexual signature in the primate brain. PLoS Genet. 4, e1000100 (2008). An elegant demonstration of the conserved evolution of sexual dimorphism in gene expression patterns in the brain of primates.
  Article PubMed PubMed Central CAS Google Scholar
• Rinn, J. L. & Snyder, M. Sexual dimorphism in mammalian gene expression. Trends Genet. 21, 298–305 (2005). A modern overview of the evolution of sexual dimorphism in gene expression.
  Article CAS PubMed Google Scholar
• Yang, X. et al. Tissue-specific expression and regulation of sexually dimorphic genes in mice. Genome Res. 16, 995–1004 (2006).
  Article CAS PubMed PubMed Central Google Scholar
• Ellegren, H. & Parsch, J. The evolution of sex-biased genes and sex-biased gene expression. Nature Rev. Genet. 8, 689–698 (2007). A comprehensive review of sexual dimorphism in the regulatory genome.
  Article CAS PubMed Google Scholar
• Reinke, V., Gil, I. S., Ward, S. & Kazmer, K. Genome-wide germline-enriched and sex-biased expression profiles in Caenorhabditis elegans. Development 131, 311–323 (2004).
  Article CAS PubMed Google Scholar
• Ranz, J. M., Castillo-Davis, C. I., Meiklejohn, C. D. & Hartl, D. L. Sex-dependent gene expression and evolution of the Drosophila transcriptome. Science 300, 1742–1745 (2003). One of the first genome-wide characterizations of sex-biased gene expression patterns in more than one species of Drosophila.
  Article CAS PubMed Google Scholar
• Baker, D. A., Meadows, L. A., Wang, J., Dow, J. A. & Russell, S. Variable sexually dimorphic gene expression in laboratory strains of Drosophila melanogaster. BMC Genomics 8, 454 (2007).
  Article PubMed PubMed Central Google Scholar
• Santos, E. M., Kille, P., Workman, V. L., Paull, G. C. & Tyler, C. R. Sexually dimorphic gene expression in the brains of mature zebrafish. Comp. Biochem. Physiol. A Mol. Integr. Physiol. 149, 314–324 (2008).
  Article PubMed CAS Google Scholar
• Nishida, Y., Yoshioka, M. & St-Amand, J. Sexually dimorphic gene expression in the hypothalamus, pituitary gland, and cortex. Genomics 85, 679–687 (2005).
  Article CAS PubMed Google Scholar
• Zhang, Y., Sturgill, D., Parisi, M., Kumar, S. & Oliver, B. Constraint and turnover in sex-biased gene expression in the genus Drosophila. Nature 450, 233–237 (2007).
  Article CAS PubMed PubMed Central Google Scholar
• Sartori-Valinotti, J. C., Iliescu, R., Fortepiani, L. A., Yanes, L. L. & Reckelhoff, J. F. Sex differences in oxidative stress and the impact on blood pressure control and cardiovascular disease. Clin. Exp. Pharmacol. Physiol. 34, 938–945 (2007).
  Article CAS PubMed Google Scholar
• Zammaretti, F., Panzica, G. & Eva, C. Sex-dependent regulation of hypothalamic neuropeptide Y-Y1 receptor gene expression in moderate/high fat, high-energy diet-fed mice. J. Physiol. 583, 445–454 (2007).
  Article CAS PubMed PubMed Central Google Scholar
• Bhasin, J. M. et al. Sex specific gene regulation and expression QTLs in mouse macrophages from a strain intercross. PLoS ONE 3, e1435 (2008). The first explicit study of genetic variation that affects sex-specific variation in gene expression and of sex-specific eQTLs in a mammalian species.
  Article PubMed PubMed Central CAS Google Scholar
• Angelopoulou, R., Lavranos, G. & Manolakou, P. Establishing sexual dimorphism in humans. Coll. Antropol. 30, 653–658 (2006).
  PubMed Google Scholar
• Visscher, P. M., Hill, W. G. & Wray, N. R. Heritability in the genomics era — concepts and misconceptions. Nature Rev. Genet. 9, 255–266 (2008). An excellent review of the use and misuse of the concept of heritability and its role in modern genetic studies.
  Article CAS PubMed Google Scholar
• Shea, M. K. et al. Genetic and non-genetic correlates of vitamins K and D. Eur. J. Clin. Nutr. 21 Nov 2007 (doi: 10.1038/sj.ejcn.1602959).
  Article PubMed PubMed Central CAS Google Scholar
• Santamaria, A. et al. Quantitative trait locus on chromosome 12q14.1 influences variation in plasma plasminogen levels in the San Antonio Family Heart Study. Hum. Biol. 79, 515–523 (2007).
  Article CAS PubMed Google Scholar
• de Simone, G. et al. Assessment of the interaction of heritability of volume load and left ventricular mass: the HyperGEN offspring study. J. Hypertens. 25, 1397–1402 (2007).
  Article CAS PubMed Google Scholar
• Pan, L., Ober, C. & Abney, M. Heritability estimation of sex-specific effects on human quantitative traits. Genet. Epidemiol. 31, 338–347 (2007).
  Article PubMed Google Scholar
• Weiss, L. A., Pan, L., Abney, M. & Ober, C. The sex-specific genetic architecture of quantitative traits in humans. Nature Genet. 38, 218–222 (2006).
  Article CAS PubMed Google Scholar
• Ober, C., Abney, M. & McPeek, M. S. The genetic dissection of complex traits in a founder population. Am. J. Hum. Genet. 69, 1068–1079 (2001).
  Article CAS PubMed PubMed Central Google Scholar
• Abney, M., McPeek, M. S. & Ober, C. Heritabilities of quantitative traits in a founder population. Am. J. Hum. Genet. 68, 1302–1307 (2001).
  Article CAS PubMed PubMed Central Google Scholar
• Seda, O. et al. Systematic, genome-wide, sex-specific linkage of cardiovascular traits in French Canadians. Hypertension 51, 1156–1162 (2008).
  Article CAS PubMed Google Scholar
• Karasik, D. & Ferrari, S. L. Contribution of gender-specific genetic factors to osteoporosis risk. Ann. Hum. Genet. 72, 696–714 (2008).
  Article CAS PubMed Google Scholar
• Wang, C. et al. A computational model for sex-specific genetic architecture of complex traits in humans: implications for mapping pain sensitivity. Mol. Pain 4, 13 (2008).
  PubMed PubMed Central Google Scholar
• Brookes, S. T. et al. Subgroup analyses in randomized trials: risks of subgroup-specific analyses; power and sample size for the interaction test. J. Clin. Epidemiol. 57, 229–236 (2004).
  Article PubMed Google Scholar
• Higaki, J. et al. Deletion allele of angiotensin-converting enzyme gene increases risk of essential hypertension in Japanese men: the Suita Study. Circulation 101, 2060–2065 (2000).
  Article CAS PubMed Google Scholar
• O'Donnell, C. J. et al. Evidence for association and genetic linkage of the angiotensin-converting enzyme locus with hypertension and blood pressure in men but not women in the Framingham Heart Study. Circulation 97, 1766–1772 (1998).
  Article CAS PubMed Google Scholar
• Stankovic, A., Zivkovic, M. & Alavantic, D. Angiotensin I-converting enzyme gene polymorphism in a Serbian population: a gender-specific association with hypertension. Scand. J. Clin. Lab. Invest. 62, 469–475 (2002).
  Article CAS PubMed Google Scholar
• Fornage, M. et al. Variation in the region of the angiotensin-converting enzyme gene influences interindividual differences in blood pressure levels in young white males. Circulation 97, 1773–1779 (1998).
  Article CAS PubMed Google Scholar
• Weiss, L. A., Abney, M., Cook, E. H., Jr & Ober, C. Sex-specific genetic architecture of whole blood serotonin levels. Am. J. Hum. Genet. 76, 33–41 (2005).
  Article CAS PubMed Google Scholar
• Anholt, R. R. & Mackay, T. F. Quantitative genetic analyses of complex behaviours in Drosophila. Nature Rev. Genet. 5, 838–849 (2004).
  Article CAS PubMed Google Scholar
• Mackay, T. F. & Anholt, R. R. Of flies and man: Drosophila as a model for human complex traits. Annu. Rev. Genomics Hum. Genet. 7, 339–367 (2006).
  Article CAS PubMed Google Scholar
• Melo, J. A., Shendure, J., Pociask, K. & Silver, L. M. Identification of sex-specific quantitative trait loci controlling alcohol preference in C57BL/6 mice. Nature Genet. 13, 147–153 (1996).
  Article CAS PubMed Google Scholar
• Peirce, J. L., Derr, R., Shendure, J., Kolata, T. & Silver, L. M. A major influence of sex-specific loci on alcohol preference in C57Bl/6 and DBA/2 inbred mice. Mamm. Genome 9, 942–948 (1998).
  Article CAS PubMed Google Scholar
• Athirakul, K. et al. Increased blood pressure in mice lacking cytochrome P450 2J5. FASEB J. 20 Aug 2008 (doi: fj.08-114413v1).
• Ponder, C. A., Munoz, M., Gilliam, T. C. & Palmer, A. A. Genetic architecture of fear conditioning in chromosome substitution strains: relationship to measures of innate (unlearned) anxiety-like behavior. Mamm. Genome 18, 221–228 (2007).
  Article PubMed Google Scholar
• Mattson, D. L. et al. Chromosomal mapping of the genetic basis of hypertension and renal disease in FHH rats. Am. J. Physiol. Renal Physiol. 293, F1905–F1914 (2007).
  Article CAS PubMed Google Scholar
• Tu, K., Chen, Z. & Lipscombe, L. L. Prevalence and incidence of hypertension from 1995 to 2005: a population-based study. CMAJ 178, 1429–1435 (2008).
  Article PubMed PubMed Central Google Scholar
• Kearney, P. M. et al. Global burden of hypertension: analysis of worldwide data. Lancet 365, 217–223 (2005).
  Article PubMed Google Scholar
• Burt, V. L. et al. Prevalence of hypertension in the US adult population. Results from the Third National Health and Nutrition Examination Survey, 1988–1991. Hypertension 25, 305–313 (1995).
  Article CAS PubMed Google Scholar
• Martins, D., Nelson, K., Pan, D., Tareen, N. & Norris, K. The effect of gender on age-related blood pressure changes and the prevalence of isolated systolic hypertension among older adults: data from NHANES III. J. Gend. Specif. Med. 4, 10–13, 20 (2001).
  CAS PubMed Google Scholar
• Kato, N. et al. Comprehensive analysis of the renin-angiotensin gene polymorphisms with relation to hypertension in the Japanese. J. Hypertens. 18, 1025–1032 (2000).
  Article CAS PubMed Google Scholar
• Rigat, B. et al. An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels. J. Clin. Invest. 86, 1343–1346 (1990).
  Article CAS PubMed PubMed Central Google Scholar
• Krege, J. H. et al. Male–female differences in fertility and blood pressure in ACE-deficient mice. Nature 375, 146–148 (1995).
  Article CAS PubMed Google Scholar
• Leung, A. & Chue, P. Sex differences in schizophrenia, a review of the literature. Acta Psychiatr. Scand. Suppl. 401, 3–38 (2000).
  Article CAS PubMed Google Scholar
• McGrath, J. et al. A systematic review of the incidence of schizophrenia: the distribution of rates and the influence of sex, urbanicity, migrant status and methodology. BMC Med. 2, 13 (2004).
  Article PubMed PubMed Central Google Scholar
• Cardno, A. G. & Gottesman, II. Twin studies of schizophrenia: from bow-and-arrow concordances to star wars Mx and functional genomics. Am. J. Med. Genet. 97, 12–17 (2000).
  Article CAS PubMed Google Scholar
• Shifman, S. et al. Genome-wide association identifies a common variant in the reelin gene that increases the risk of schizophrenia only in women. PLoS Genet. 4, e28 (2008).
  Article PubMed PubMed Central CAS Google Scholar
• Wedenoja, J. et al. Replication of linkage on chromosome 7q22 and association of the regional Reelin gene with working memory in schizophrenia families. Mol. Psychiatry 13, 673–684 (2008).
  Article CAS PubMed Google Scholar
• Hong, S. E. et al. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nature Genet. 26, 93–96 (2000).
  Article CAS PubMed Google Scholar
• Eastwood, S. L. & Harrison, P. J. Interstitial white matter neurons express less reelin and are abnormally distributed in schizophrenia: towards an integration of molecular and morphologic aspects of the neurodevelopmental hypothesis. Mol. Psychiatry 8, 769, 821–731 (2003).
  Article CAS Google Scholar
• Hassold, T. & Hunt, P. To err (meiotically) is human: the genesis of human aneuploidy. Nature Rev. Genet. 2, 280–291 (2001).
  Article CAS PubMed Google Scholar
• Baker, B. S., Carpenter, A. T., Esposito, M. S., Esposito, R. E. & Sandler, L. The genetic control of meiosis. Annu. Rev. Genet. 10, 53–134 (1976).
  Article CAS PubMed Google Scholar
• Coop, G. & Przeworski, M. An evolutionary view of human recombination. Nature Rev. Genet. 8, 23–34 (2007).
  Article CAS PubMed Google Scholar
• Kong, A. et al. Sequence variants in the RNF212 gene associate with genome-wide recombination rate. Science 319, 1398–1401 (2008).
  Article CAS PubMed Google Scholar
• Coop, G., Wen, X., Ober, C., Pritchard, J. K. & Przeworski, M. High-resolution mapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans. Science 319, 1395–1398 (2008).
  Article CAS PubMed Google Scholar
• Broman, K. W., Murray, J. C., Sheffield, V. C., White, R. L. & Weber, J. L. Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am. J. Hum. Genet. 63, 861–869 (1998).
  Article CAS PubMed PubMed Central Google Scholar
• Cheung, V. G., Burdick, J. T., Hirschmann, D. & Morley, M. Polymorphic variation in human meiotic recombination. Am. J. Hum. Genet. 80, 526–530 (2007).
  Article CAS PubMed PubMed Central Google Scholar
• Martinez, F. D. CD14, endotoxin, and asthma risk: actions and interactions. Proc. Am. Thorac. Soc. 4, 221–225 (2007).
  Article CAS PubMed PubMed Central Google Scholar
• Zambelli-Weiner, A. et al. Evaluation of the CD14/-260 polymorphism and house dust endotoxin exposure in the Barbados Asthma Genetics Study. J. Allergy Clin. Immunol. 115, 1203–1209 (2005).
  Article CAS PubMed Google Scholar
• Simpson, A. et al. Endotoxin exposure, CD14, and allergic disease: an interaction between genes and the environment. Am. J. Respir. Crit. Care Med. 174, 386–392 (2006).
  Article CAS PubMed Google Scholar
• Berchtold, N. C. et al. Gene expression changes in the course of normal brain aging are sexually dimorphic. Proc. Natl Acad. Sci. USA 105, 15605–15610 (2008).
  Article CAS PubMed PubMed Central Google Scholar
• Gupta, V. & Singh, S. M. Sex dimorphism in antitumor response of chemotherapeutic drug cisplatin in a murine host-bearing a T-cell lymphoma. Anticancer Drugs 19, 583–592 (2008).
  Article CAS PubMed Google Scholar
• Jackson, A., Stephens, D. & Duka, T. Gender differences in response to lorazepam in a human drug discrimination study. J. Psychopharmacol. 19, 614–619 (2005).
  Article CAS PubMed Google Scholar
• Klein, W. Gender differences in clinical trials in coronary heart disease: response to drug therapy. Eur. Heart J. 17, 1786–1790 (1996).
  Article CAS PubMed Google Scholar
• Dixon, A. L. et al. A genome-wide association study of global gene expression. Nature Genet. 39, 1202–1207 (2007).
  Article CAS PubMed Google Scholar
• Stranger, B. E. et al. Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science 315, 848–853 (2007).
  Article CAS PubMed PubMed Central Google Scholar
• Zhang, W. et al. Evaluation of genetic variation contributing to differences in gene expression between populations. Am. J. Hum. Genet. 82, 631–640 (2008).
  Article CAS PubMed PubMed Central Google Scholar
• Morley, M. et al. Genetic analysis of genome-wide variation in human gene expression. Nature 430, 743–747 (2004).
  Article CAS PubMed PubMed Central Google Scholar
• Storey, J. D. A direct approach to false discovery rates. J. Royal Stat. Soc. B 64, 479–198 (2002).
  Article Google Scholar
• Gilad, Y., Rifkin, S. A. & Pritchard, J. K. Revealing the architecture of gene regulation: the promise of eQTL studies. Trends Genet. 24, 408–415 (2008).
  Article CAS PubMed PubMed Central Google Scholar
• Darwin, C. On the Origins of Species by Means of Natural Selection (John Murray, London, 1859).
  Google Scholar
• Cunningham, J. T. Sexual Dimorphism in the Animal Kingdom (Adam and Charles Black, London, 1900).
  Google Scholar
• Kimura, K. I., Ote, M., Tazawa, T. & Yamamoto, D. Fruitless specifies sexually dimorphic neural circuitry in the Drosophila brain. Nature 438, 229–233 (2005).
  Article CAS PubMed Google Scholar
• Stockinger, P., Kvitsiani, D., Rotkopf, S., Tirian, L. & Dickson, B. J. Neural circuitry that governs Drosophila male courtship behavior. Cell 121, 795–807 (2005).
  Article CAS PubMed Google Scholar
• Kimchi, T., Xu, J. & Dulac, C. A functional circuit underlying male sexual behaviour in the female mouse brain. Nature 448, 1009–1014 (2007).
  Article CAS PubMed Google Scholar
• Plavcan, J. M. Sexual dimorphism in primate evolution. Yearb. Phys. Anthropol. 44, 25–53 (2001).
  Article Google Scholar
• Andersson, M. Sexual Selection (Princeton Univ. Press, New Jersey, 1994). Comprehensive review and synthesis of essential topics in sexual selection, providing insight into the evolution of sex differences in nature and the role of selection and constraint in the development of secondary sexual traits.
  Book Google Scholar
• Geary, D. C. Male, Female: The Evolution of Human Sex Differences (American Psychological Association, Washington DC, 1998).
  Book Google Scholar
• Wizeman, T. M. & Pardue, M.-L. (eds) Exploring the Biological Contributions to Human Health: Does Sex Matter? (National Academy Press, Washington DC, 2001).
  Google Scholar
• Badyaev, A. V. & Hill, G. E. Avian sexual dichromatism in relation to phylogeny and ecology. Ann. Rev. Ecol. Evol. Syst. 34, 27–49 (2003).
  Article Google Scholar
• Lande, R. Sexual dimorphism, sexual selection, and adaptation in polygenic characters. Evolution 34, 292–305 (1980). A classic study that uses quantitative population genetic models to show that genetic correlations influence the expression and evolution of sexually dimorphic traits.
  Article PubMed Google Scholar
• Rice, W. R. & Chippindale, A. K. Intersexual ontogenetic conflict. J. Evol. Biol. 14, 685–693 (2001).
  Article Google Scholar
• Nelson, J. L. Microchimerism in human health and disease. Autoimmunity 36, 5–9 (2003).
  Article CAS PubMed Google Scholar
• Lambert, N. C. et al. Quantification of maternal microchimerism by HLA-specific real-time polymerase chain reaction: studies of healthy women and women with scleroderma. Arthritis Rheum. 50, 906–914 (2004).
  Article CAS PubMed Google Scholar
• Maloney, S. et al. Microchimerism of maternal origin persists into adult life. J. Clin. Invest. 104, 41–47 (1999).
  Article CAS PubMed PubMed Central Google Scholar
• Reed, A. M., Picornell, Y. J., Harwood, A. & Kredich, D. W. Chimerism in children with juvenile dermatomyositis. Lancet 356, 2156–2157 (2000).
  Article CAS PubMed Google Scholar
• Reed, A. M., McNallan, K., Wettstein, P., Vehe, R. & Ober, C. Does HLA-dependent chimerism underlie the pathogenesis of juvenile dermatomyositis? J. Immunol. 172, 5041–5046 (2004).
  Article CAS PubMed Google Scholar
• Yan, Z. et al. Male microchimerism in women without sons: quantitative assessment and correlation with pregnancy history. Am. J. Med. 118, 899–906 (2005).
  Article PubMed Google Scholar
• Loubiere, L. S. et al. Maternal microchimerism in healthy adults in lymphocytes, monocyte/macrophages and NK cells. Lab. Invest. 86, 1185–1192 (2006).
  Article CAS PubMed Google Scholar
• Stevens, A. M., Hermes, H. M., Rutledge, J. C., Buyon, J. P. & Nelson, J. L. Myocardial-tissue-specific phenotype of maternal microchimerism in neonatal lupus congenital heart block. Lancet 362, 1617–1623 (2003).
  Article PubMed Google Scholar
• Stevens, A. M. et al. Liver biopsies from human females contain male hepatocytes in the absence of transplantation. Lab. Invest. 84, 1603–1609 (2004).
  Article PubMed Google Scholar
• Khosrotehrani, K., Johnson, K. L., Cha, D. H., Salomon, R. N. & Bianchi, D. W. Transfer of fetal cells with multilineage potential to maternal tissue. JAMA 292, 75–80 (2004).
  Article CAS PubMed Google Scholar
• Nelson, J. L. et al. Microchimerism and HLA-compatible relationships of pregnancy in scleroderma. Lancet 351, 559–562 (1998).
  Article CAS PubMed Google Scholar
• Johnson, K. L. et al. Fetal cell microchimerism in tissue from multiple sites in women with systemic sclerosis. Arthritis Rheum. 44, 1848–1854 (2001).
  Article CAS PubMed Google Scholar
• Ando, T., Imaizumi, M., Graves, P. N., Unger, P. & Davies, T. F. Intrathyroidal fetal microchimerism in Graves' disease. J. Clin. Endocrinol. Metab. 87, 3315–3320 (2002).
  CAS PubMed Google Scholar
• Nelson, J. L. et al. Maternal microchimerism in peripheral blood in type 1 diabetes and pancreatic islet beta cell microchimerism. Proc. Natl Acad. Sci. USA 104, 1637–1642 (2007).
  Article CAS PubMed PubMed Central Google Scholar
• Klintschar, M., Schwaiger, P., Mannweiler, S., Regauer, S. & Kleiber, M. Evidence of fetal microchimerism in Hashimoto's thyroiditis. J. Clin. Endocrinol. Metab. 86, 2494–2498 (2001).
  CAS PubMed Google Scholar
• Artlett, C. M. et al. Chimeric cells of maternal origin in juvenile idiopathic inflammatory myopathies. Childhood Myositis Heterogeneity Collaborative Group. Lancet 356, 2155–2156 (2000).
  Article CAS PubMed Google Scholar
• Miyashita, Y., Ono, M., Ono, M., Ueki, H. & Kurasawa, K. Y chromosome microchimerism in rheumatic autoimmune disease. Ann. Rheum. Dis. 59, 655–656 (2000).
  Article CAS PubMed PubMed Central Google Scholar
• Badenhoop, K. Intrathyroidal microchimerism in Graves' disease or Hashimoto's thyroiditis: regulation of tolerance or alloimmunity by fetal-maternal immune interactions? Eur. J. Endocrinol. 150, 421–423 (2004).
  Article CAS PubMed Google Scholar
• Nelson, J. L. Maternal–fetal immunology and autoimmune disease: is some autoimmune disease auto-alloimmune or allo-autoimmune? Arthritis Rheum. 39, 191–194 (1996).
  Article CAS PubMed Google Scholar
• Gammill, H. S. & Nelson, J. L. Naturally acquired microchimerism. Int. J. Dev. Biol. (in the press).
• Reik, W. & Walter, J. Genomic imprinting: parental influence on the genome. Nature Rev. Genet. 2, 21–32 (2001).
  Article CAS PubMed Google Scholar
• Falls, J. G., Pulford, D. J., Wylie, A. A. & Jirtle, R. L. Genomic imprinting: implications for human disease. Am. J. Pathol. 154, 635–647 (1999).
  Article CAS PubMed PubMed Central Google Scholar
• Wilkins, J. F. & Haig, D. What good is genomic imprinting: the function of parent-specific gene expression. Nature Rev. Genet. 4, 359–368 (2003).
  Article CAS PubMed Google Scholar
• Morison, I. M., Ramsay, J. P. & Spencer, H. G. A census of mammalian imprinting. Trends Genet. 21, 457–465 (2005).
  Article CAS PubMed Google Scholar
• Bunzel, R. et al. Polymorphic imprinting of the serotonin-2A (5-HT2A) receptor gene in human adult brain. Brain Res. Mol. Brain Res. 59, 90–92 (1998).
  Article CAS PubMed Google Scholar
• Giannoukakis, N., Deal, C., Paquette, J., Kukuvitis, A. & Polychronakos, C. Polymorphic functional imprinting of the human IGF2 gene among individuals, in blood cells, is associated with H19 expression. Biochem. Biophys. Res. Commun. 220, 1014–1019 (1996).
  Article CAS PubMed Google Scholar
• Wolf, J. B., Cheverud, J. M., Roseman, C. & Hager, R. Genome-wide analysis reveals a complex pattern of genomic imprinting in mice. PLoS Genet. 4, e1000091 (2008).
  Article PubMed PubMed Central CAS Google Scholar
• Kaufman, J. M. & Vermeulen, A. The decline of androgen levels in elderly men and its clinical and therapeutic implications. Endocr. Rev. 26, 833–876 (2005).
  Article CAS PubMed Google Scholar
• Khosla, S. et al. Relationship of serum sex steroid levels and bone turnover markers with bone mineral density in men and women: a key role for bioavailable estrogen. J. Clin. Endocrinol. Metab. 83, 2266–2274 (1998).
  CAS PubMed Google Scholar
• Winters, S. J., Talbott, E., Guzick, D. S., Zborowski, J. & McHugh, K. P. Serum testosterone levels decrease in middle age in women with the polycystic ovary syndrome. Fertil. Steril. 73, 724–729 (2000).
  Article CAS PubMed Google Scholar
• Cooper, G. S. & Stroehla, B. C. The epidemiology of autoimmune diseases. Autoimmun. Rev. 2, 119–125 (2003).
  Article PubMed Google Scholar
• Mendez, E. P. et al. US incidence of juvenile dermatomyositis, 1995–1998: results from the National Institute of Arthritis and Musculoskeletal and Skin Diseases Registry. Arthritis Rheum. 49, 300–305 (2003).
  Article PubMed Google Scholar