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| 1 | Why endophenotype development requires families显示文摘Endophenotypes are heritable quantitative traits that are associated with disease liability, can be measured in both affected and unaffected individuals, and provide much greater power to localize and identify risk genes for mental illness than does affection status alone. Traditionally, endophenotypic markers for psychiatric illnesses include in vivo neuroanatomic and functional magnetic resonance imaging measurements and indices of neurocognitive abilities. However, neurocognitive and neuroimaging measures are by no means the only classes of endophenotypes that could be useful for identifying genes for mental illness. Given the advantages of endophenotype-based strategies for elucidating the genetic underpinnings of psychiatric disorders, it would seem prudent to develop a wide range of putative endophenotypes. In order for a measure to be considered a valid endophenotype, it must meet a number of criteria. Specifically, the trait must (1) have moderate to high heritability, (2) be associated with the illness, (3) be independent of clinical state, and (4) impairment must co-segregate with the illness within a family, with non-affected family members showing impairment relative to the general population. While each of these criteria is critical, the heritability and co-segregation requirements are really what differentiate an endophenotype from a simple biomarker. At this time, one requires an experimental design that includes families to demonstrate both heritability and co-segregation. The assertion that novel endophenotypes can not be fully established without family data does not preclude work in unrelated individuals, rather that unrelated samples will only be able to nominate potential candidate endophenotypes that subsequently need to be confirmed in family-based experiments. | GLAHN David C BLANGERO John | 2011 | Chinese Science Bulletin2011，56，32： | 2 |
| 2 | Linkage of type 2 diabetes mellitus and of age at onset to a genetic location on chromosome 10q in Mexican Americans显示文摘 | Blangero J Almasy L | 1999 | Am J Hum Genet1999，64，4： | 1 |
| 3 | Genetic determinants of variation in gallbladder disease in Mexican American population显示文摘 | Duggirala R Mitchell BD Blangero J | 1999 | Genet Epidemiol1999，16，2： | 1 |
| 4 | Quantitative genetic analysis of arterial oxygen saturation in Tibetan highlanders显示文摘 | Beall CM Strohl KP Blangero J | 1997 | Hum Biol1997，69，5： | 1 |
| 5 | Quantitative ge- netic analysis of arterial oxygen saturation in Tibetan highlanders显示文摘 | Beall C M Strohl K P Blangero J Williams-Blangero S Decker M J Brittenham G M | 1997 | Hum Biol1997，69，： | 1 |
| 6 | Percent of oxy- gen saturation of arterial hemoglobin among Bolivian Aymara at 3,900-4,000 m显示文摘 | Beall C M Strohl K P Blangero J Williams-Blangero S Decker M J Brittenham G M | 1999 | Am J Phys Anthropol1999，8，： | 1 |
| 7 | Cortical thickness or grey matter volume? The importance of selecting the phenotype for imaging genetics studies 显示文摘 | Winkler AM Kochunov P Blangero J | 2010 | Neuroimage2010，53，： | 1 |
| 8 | A major locus for fasting insulin concentrations and insulin resistance on chromosome 6q with strong pleiotropic effects on obesityrelated phenotypes in nondiabetic Mdxican Americans显示文摘 | Duggirala R Blangero J Almasy L et a1 | 2001 | Am J Hum Genet2001，68，： | 1 |
| 9 | Interactions between variants in the beta3 - adrenergic receptor and peroxisome proliferators - activated receptor- gamma2 genes and obesity显示文摘 | Hsueh WC Cole SA Shuldiner AR Beamer BA Blangero J Hixson JE MacCluer JW Mitchell BD | 2001 | Diabetes Care2001，24，4： | 1 |
| 10 | Genetic analysis of susceptibility to infection with Ascaris lumbricoides 显示文摘 | Williams- Blangero S Subedi J Upadhayay RP | 1999 | Am J Trop Med Hyg1999，60，： | 1 |
| 11 | Genetic determinants of variation in gallbladder disease in the Mexican-American olulation 显示文摘 | Duggirals R Mitchell BD Blangero J | 1999 | Genet Epidemiol1999，16，2： | 1 |
| 12 | Right-hemispheric dominance for visual remapping in humans显示文摘 | L. Pisella N. Alahyane A. Blangero F. Thery S. Blanc D. Pelisson | 2011 | Philosophical Transactions of the Royal Society B2011，，1564： | 1 |
| 13 | A DNA polymorphism for LCAT is associated with altered LCAT activity and high density lipoprotein size distributions in baboons 显示文摘 | Blangero J Hixson JE | 1992 | Arterioscler Thromb1992，12，： | 1 |
| 14 | Factors of insulin resistance syndrome-related phenotypes are linked to genetic locations on chromosomes 6 and 7 in nondiabetic mexican-americans显示文摘 | Arya R Blangero J Williams K | 2002 | Diabetes2002，51，3： | 1 |
| 15 | Linkage of T2DM mellitus and of age at onset to a genetic location on chromosome 10q in Mexican Americans显示文摘 | Duggirala R Blangero J Almasy L | 1999 | Am J Hum Genet1999，64，4： | 1 |
| 16 | Genetic epidemiological approaches to search for osteoprosis genes显示文摘 | Nguyen TV Blangero J Eisman IA | 2000 | Bone Miner Res2000，15，3： | 1 |
| 17 | Multipoint quantitative-trait linkage analysis in general pedigrees显示文摘 | Almasy L Blangero J | 1998 | Am J Hum Genet1998，62，4： | 1 |
| 18 | Robust LOD scores for variance component-based linkage analysis显示文摘 | Blangero J Wilhams J T Almasy L | 2000 | Genet Epidemiol2000，19，1： | 1 |
| 19 | Endophenotypes as quantitative risk fac- tors for psychiatric disease: rationale and study design显示文摘 | Almasy L Blangero J | 2001 | Am J Med Gene2001，105，1： | 1 |
| 20 | Heritability of event-related brain otentials in families with a history of alcoholism显示文摘 | Porjesz B Blangero J | 1999 | Am J Med Genet1999，88，4： | 1 |
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