当前位置： SCI文献检索 > AMERICAN JOURNAL OF HUMAN GENETICS期刊下所有文献 > Risk prediction of complex diseases from family history and known susceptibility loci, with applications for cancer screening.

Risk prediction of complex diseases from family history and known susceptibility loci, with applications for cancer screening.

Abstract：

:Risk prediction based on genomic profiles has raised a lot of attention recently. However, family history is usually ignored in genetic risk prediction. In this study we proposed a statistical framework for risk prediction given an individual's genotype profile and family history. Genotype information about the relatives can also be incorporated. We allow risk prediction given the current age and follow-up period and consider competing risks of mortality. The framework allows easy extension to any family size and structure. In addition, the predicted risk at any percentile and the risk distribution graphs can be computed analytically. We applied the method to risk prediction for breast and prostate cancers by using known susceptibility loci from genome-wide association studies. For breast cancer, in the population the 10-year risk at age 50 ranged from 1.1% at the 5th percentile to 4.7% at the 95th percentile. If we consider the average 10-year risk at age 50 (2.39%) as the threshold for screening, the screening age ranged from 62 at the 20th percentile to 38 at the 95th percentile (and some never reach the threshold). For women with one affected first-degree relative, the 10-year risks ranged from 2.6% (at the 5th percentile) to 8.1% (at the 95th percentile). For prostate cancer, the corresponding 10-year risks at age 60 varied from 1.8% to 14.9% in the population and from 4.2% to 23.2% in those with an affected first-degree relative. We suggest that for some diseases genetic testing that incorporates family history can stratify people into diverse risk categories and might be useful in targeted prevention and screening.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

So HC,Kwan JS,Cherny SS,Sham PC

doi

10.1016/j.ajhg.2011.04.001

subject

Has Abstract

pub_date

2011-05-13 00:00:00

pages

548-65

issue

5

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(11)00142-X

journal_volume

88

pub_type

杂志文章

相关文献

AMERICAN JOURNAL OF HUMAN GENETICS文献大全
  • Linkage disequilibrium in the insulin gene region: size variation at the 5' flanking polymorphism and bimodality among "class I" alleles.

    abstract：:The 5' flanking polymorphism (5'FP), a hypervariable region at the 5' end of the insulin gene, has "class 1" alleles (650-900 bp long) that are in positive linkage disequilibrium with insulin-dependent diabetes mellitus (IDDM). We report that precise sizing of the 5'FP yields a bimodal frequency distribution of class ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： McGinnis RE,Spielman RS

    更新日期：1994-09-01 00:00:00

  • Inferring genetic ancestry: opportunities, challenges, and implications.

    abstract：:Increasing public interest in direct-to-consumer (DTC) genetic ancestry testing has been accompanied by growing concern about issues ranging from the personal and societal implications of the testing to the scientific validity of ancestry inference. The very concept of "ancestry" is subject to misunderstanding in both...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2010.03.011

    authors： Royal CD,Novembre J,Fullerton SM,Goldstein DB,Long JC,Bamshad MJ,Clark AG

    更新日期：2010-05-14 00:00:00

  • SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.

    abstract：:Syndromic diarrhea (or trichohepatoenteric syndrome) is a rare congenital bowel disorder characterized by intractable diarrhea and woolly hair, and it has recently been associated with mutations in TTC37. Although databases report TTC37 as being the human ortholog of Ski3p, one of the yeast Ski-complex cofactors, this...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2012.02.009

    authors： Fabre A,Charroux B,Martinez-Vinson C,Roquelaure B,Odul E,Sayar E,Smith H,Colomb V,Andre N,Hugot JP,Goulet O,Lacoste C,Sarles J,Royet J,Levy N,Badens C

    更新日期：2012-04-06 00:00:00

  • A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis.

    abstract：:Autosomal-recessive congenital ichthyoses represent a large and heterogeneous group of disorders of epidermal cornification. Recent data suggest that most of these disorders might result from defective lipid transport and metabolism. In the present study, we describe a late-onset form of recessive ichthyosis in a larg...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2011.02.011

    authors： Israeli S,Khamaysi Z,Fuchs-Telem D,Nousbeck J,Bergman R,Sarig O,Sprecher E

    更新日期：2011-04-08 00:00:00

  • Comparative genomics and the evolution of human mitochondrial DNA: assessing the effects of selection.

    abstract：:This article provides evidence that selection has been a significant force during the evolution of the human mitochondrial genome. Both gene-by-gene and whole-genome approaches were used here to assess selection in the 560 mitochondrial DNA (mtDNA) coding-region sequences that were used previously for reduced-median-n...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/381505

    authors： Elson JL,Turnbull DM,Howell N

    更新日期：2004-02-01 00:00:00

  • Contrasting evolutionary histories among tightly linked HLA loci.

    abstract：:Genes comprising the major histocompatibility complex (MHC) play a central role in governing the immune response of vertebrates. A great deal of information has been revealed on the molecular biology and physiology of these loci, but three features-the high polymorphism, tight linkage among the loci, and the nonrandom...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Klitz W,Thomson G,Baur MP

    更新日期：1986-09-01 00:00:00

  • Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.

    abstract：:Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome is a rare, multisystem disorder characterized clinically by ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, leukoencephalopathy, thin body habitus, and myopathy. Laboratory studies reveal defects of oxidative-phosphoryla...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/301979

    authors： Hirano M,Garcia-de-Yebenes J,Jones AC,Nishino I,DiMauro S,Carlo JR,Bender AN,Hahn AF,Salberg LM,Weeks DE,Nygaard TG

    更新日期：1998-08-01 00:00:00

  • GATES: a rapid and powerful gene-based association test using extended Simes procedure.

    abstract：:The gene has been proposed as an attractive unit of analysis for association studies, but a simple yet valid, powerful, and sufficiently fast method of evaluating the statistical significance of all genes in large, genome-wide datasets has been lacking. Here we propose the use of an extended Simes test that integrates...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2011.01.019

    authors： Li MX,Gui HS,Kwan JS,Sham PC

    更新日期：2011-03-11 00:00:00

  • Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome Iq.

    abstract：:Van der Woude syndrome (VWS) is an autosomal dominant disorder in which affected individuals have one or more of the following manifestations: cleft lip, cleft palate, hypodontia, or paramedian lower-lip pits. VWS is a well-characterized example of a single-gene abnormality that disturbs normal craniofacial morphogene...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Murray JC,Nishimura DY,Buetow KH,Ardinger HH,Spence MA,Sparkes RS,Falk RE,Falk PM,Gardner RJ,Harkness EM

    更新日期：1990-03-01 00:00:00

  • Long-Range Modulation of PAG1 Expression by 8q21 Allergy Risk Variants.

    abstract：:The gene(s) whose expression is regulated by allergy risk variants is unknown for many loci identified through genome-wide association studies. Addressing this knowledge gap might point to new therapeutic targets for allergic disease. The aim of this study was to identify the target gene(s) and the functional variant(...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2015.06.010

    authors： Vicente CT,Edwards SL,Hillman KM,Kaufmann S,Mitchell H,Bain L,Glubb DM,Lee JS,French JD,Ferreira MA

    更新日期：2015-08-06 00:00:00

  • Haplotypes of the coagulation factor XIII A subunit locus in normal and deficient subjects.

    abstract：:Several RFLPs have been detected using a cDNA fragment encoding the amino-terminal half of the A subunit of factor XIII. The RFLPs show little linkage disequilibrium and form many different haplotypes that can be used to identify chromosomes transmitting factor XIII A subunit deficiency. Southern blot analysis of thre...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Board PG,Chapple R,Coggan M

    更新日期：1988-05-01 00:00:00

  • Evidence against the reported linkage of the cutaneous melanoma-dysplastic nevus syndrome locus to chromosome Ip36.

    abstract：:The reported linkage between cutaneous melanoma and the dysplastic nevus syndrome (CM/DNS) to markers located on the distal portion of the short arm of chromosome 1 was examined in three Utah kindreds ascertained for multiple cases of melanoma. Family members in these kindreds were genotyped for the two markers report...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Cannon-Albright LA,Goldgar DE,Wright EC,Turco A,Jost M,Meyer LJ,Piepkorn M,Zone JJ,Skolnick MH

    更新日期：1990-05-01 00:00:00

  • Nondisjunction of chromosome 21: comparisons of cytogenetic and molecular studies of the meiotic stage and parent of origin.

    abstract：:In the present report, we summarize studies aimed at examining the reliability of chromosome heteromorphisms in analyses of chromosome 21 nondisjunction. We used two cytogenetic approaches--fluorescent in situ hybridization (FISH) to repetitive sequences on 21p and traditional Q-banding--to distinguish chromosome 21 h...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Lorber BJ,Grantham M,Peters J,Willard HF,Hassold TJ

    更新日期：1992-12-01 00:00:00

  • Genetic linkage of attention-deficit/hyperactivity disorder on chromosome 16p13, in a region implicated in autism.

    abstract：:Attention-deficit/hyperactivity disorder (ADHD) is the most commonly diagnosed behavioral disorder in childhood and likely represents an extreme of normal behavior. ADHD significantly impacts learning in school-age children and leads to impaired functioning throughout the life span. There is strong evidence for a gene...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/342732

    authors： Smalley SL,Kustanovich V,Minassian SL,Stone JL,Ogdie MN,McGough JJ,McCracken JT,MacPhie IL,Francks C,Fisher SE,Cantor RM,Monaco AP,Nelson SF

    更新日期：2002-10-01 00:00:00

  • Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosa.

    abstract：:The microsatellite marker DXS426 maps to the interval Xp21.1-Xp11.21, the chromosomal region which contains two loci for X-linked retinitis pigmentosa (XLRP; RP2 and RP3). We have refined the localization of DXS426 both physically, by mapping it to a deletion which spans the interval Xp21.3-Xp11.23, and genetically, b...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Coleman M,Bhattacharya S,Lindsay S,Wright A,Jay M,Litt M,Craig I,Davies K

    更新日期：1990-12-01 00:00:00

  • Allele-Specific QTL Fine Mapping with PLASMA.

    abstract：:Although quantitative trait locus (QTL) associations have been identified for many molecular traits such as gene expression, it remains challenging to distinguish the causal nucleotide from nearby variants. In addition to traditional QTLs by association, allele-specific (AS) QTLs are a powerful measure of cis-regulati...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2019.12.011

    authors： Wang AT,Shetty A,O'Connor E,Bell C,Pomerantz MM,Freedman ML,Gusev A

    更新日期：2020-02-06 00:00:00

  • De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

    abstract：:Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome known to be caused by biallelic loss-of-function mutations in one of five genes encoding pre-replication complex proteins: ORC1, ORC4, ORC6, CDT1, and CDC6. Mutations in these genes cause disruption of the origin of DNA replication...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2015.11.006

    authors： Burrage LC,Charng WL,Eldomery MK,Willer JR,Davis EE,Lugtenberg D,Zhu W,Leduc MS,Akdemir ZC,Azamian M,Zapata G,Hernandez PP,Schoots J,de Munnik SA,Roepman R,Pearring JN,Jhangiani S,Katsanis N,Vissers LE,Brunner HG,

    更新日期：2015-12-03 00:00:00

  • Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity.

    abstract：:Supernumerary marker chromosomes (SMCs) of chromosome 15, designated "SMC(15)s," are the most common SMC in humans, accounting for as much as 60% of all those observed. We report the characterization of 46 large SMC(15)s, using both fluorescence in situ hybridization and polymerase chain reaction analysis within and d...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/379155

    authors： Roberts SE,Maggouta F,Thomas NS,Jacobs PA,Crolla JA

    更新日期：2003-11-01 00:00:00

  • Autosomal dominant orthostatic hypotensive disorder maps to chromosome 18q.

    abstract：:Familial orthostatic hypotensive disorder is characterized by light-headedness on standing, which may worsen to syncope, palpitations, and blue-purple ankle discoloration, and is accompanied by a marked decrease in systolic blood pressure, an increase in diastolic pressure, and tachycardia, all of which resolve when s...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/302096

    authors： DeStefano AL,Baldwin CT,Burzstyn M,Gavras I,Handy DE,Joost O,Martel T,Nicolaou M,Schwartz F,Streeten DH,Farrer LA,Gavras H

    更新日期：1998-11-01 00:00:00

  • Linkage analysis of human leukocyte antigen (HLA) markers in familial psoriasis: strong disequilibrium effects provide evidence for a major determinant in the HLA-B/-C region.

    abstract：:Although psoriasis is strongly associated with certain human leukocyte antigens (HLAs), evidence for linkage to HLA markers has been limited. The objectives of this study were (1) to provide more definitive evidence for linkage of psoriasis to HLA markers in multiplex families; (2) to compare the major HLA risk allele...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/301899

    authors： Jenisch S,Henseler T,Nair RP,Guo SW,Westphal E,Stuart P,Krönke M,Voorhees JJ,Christophers E,Elder JT

    更新日期：1998-07-01 00:00:00

  • The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.

    abstract：:Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. We have studied 12 unrelated TCS families with multiple affected individuals for linkage to five chromosome 5 markers. There is strong evidence demonstr...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Dixon MJ,Read AP,Donnai D,Colley A,Dixon J,Williamson R

    更新日期：1991-07-01 00:00:00

  • Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.

    abstract：:EXTL3 regulates the biosynthesis of heparan sulfate (HS), important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs). By whole-exome sequencing, we identified homozygous missense mutations c.1382C>T, c.1537C>T, c.1970A>G, and c.2008T>G in EXTL3 in nine affected individ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2017.01.013

    authors： Oud MM,Tuijnenburg P,Hempel M,van Vlies N,Ren Z,Ferdinandusse S,Jansen MH,Santer R,Johannsen J,Bacchelli C,Alders M,Li R,Davies R,Dupuis L,Cale CM,Wanders RJA,Pals ST,Ocaka L,James C,Müller I,Lehmberg K,Strom T

    更新日期：2017-02-02 00:00:00

  • Linkage mapping of a severe X-linked mental retardation syndrome.

    abstract：:A four-generation Swedish family with a new type of X-linked mental retardation syndrome was recently reported by Gustavson et al. The complex syndrome includes microcephaly, severe mental retardation, optical atrophy with decreased vision or blindness, severe hearing defect, characteristic facial features, spasticity...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Malmgren H,Sundvall M,Dahl N,Gustavson KH,Annerén G,Wadelius C,Steén-Bondeson ML,Pettersson U

    更新日期：1993-06-01 00:00:00

  • Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus.

    abstract：:The spinocerebellar ataxia 3 locus (SCA3) for type I autosomal dominant cerebellar ataxia (ADCA type I), a clinically and genetically heterogeneous group of neurodegenerative disorders, has been mapped to chromosome 14q32.1. ADCA type I patients from families segregating SCA3 share clinical features in common with tho...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Cancel G,Abbas N,Stevanin G,Dürr A,Chneiweiss H,Néri C,Duyckaerts C,Penet C,Cann HM,Agid Y

    更新日期：1995-10-01 00:00:00

  • A recombination outside the BB deletion refines the location of the X linked retinitis pigmentosa locus RP3.

    abstract：:Genetic loci for X-linked retinitis pigmentosa (XLRP) have been mapped between Xp11.22 and Xp22.13 (RP2, RP3, RP6, and RP15). The RP3 gene, which is responsible for the predominant form of XLRP in most Caucasian populations, has been localized to Xp21.1 by linkage analysis and the map positions of chromosomal deletion...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Fujita R,Bingham E,Forsythe P,McHenry C,Aita V,Navia BA,Dry K,Segal M,Devoto M,Bruns G,Wright AF,Ott J,Sieving PA,Swaroop A

    更新日期：1996-07-01 00:00:00

  • Genetic analysis of plasma sitosterol, apoprotein B, and lipoproteins in a large Amish pedigree with sitosterolemia.

    abstract：:We previously reported the finding of phytosterolemia, xanthomatosis, and hyperapobetalipoproteinemia (hyperapoB) in five siblings in a large Amish pedigree ascertained through a 13-year-old boy who died suddenly from advanced coronary atherosclerosis. Here, we present further analyses of the plasma levels of the plan...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Beaty TH,Kwiterovich PO Jr,Khoury MJ,White S,Bachorik PS,Smith HH,Teng B,Sniderman A

    更新日期：1986-04-01 00:00:00

  • A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other.

    abstract：:In this report, we describe a simple correction for multiple testing of single-nucleotide polymorphisms (SNPs) in linkage disequilibrium (LD) with each other, on the basis of the spectral decomposition (SpD) of matrices of pairwise LD between SNPs. This method provides a useful alternative to more computationally inte...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1086/383251

    authors： Nyholt DR

    更新日期：2004-04-01 00:00:00

  • Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.

    abstract：:Glycosylphosphatidylinositol (GPI)-anchored proteins are critical for embryogenesis, neurogenesis, and cell signaling. Variants in several genes participating in GPI biosynthesis and processing lead to decreased cell surface presence of GPI-anchored proteins (GPI-APs) and cause inherited GPI deficiency disorders (IGDs...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2020.03.001

    authors： Nguyen TTM,Murakami Y,Mobilio S,Niceta M,Zampino G,Philippe C,Moutton S,Zaki MS,James KN,Musaev D,Mu W,Baranano K,Nance JR,Rosenfeld JA,Braverman N,Ciolfi A,Millan F,Person RE,Bruel AL,Thauvin-Robinet C,Ververi A

    更新日期：2020-04-02 00:00:00

  • Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.

    abstract：:Genetic defects affecting motility of cilia and flagella cause chronic destructive airway disease, randomization of left-right body asymmetry, and, frequently, male infertility in primary ciliary dyskinesia (PCD). The most frequent defects involve outer and inner dynein arms (ODAs and IDAs) that are large multiprotein...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：10.1016/j.ajhg.2009.10.018

    authors： Loges NT,Olbrich H,Becker-Heck A,Häffner K,Heer A,Reinhard C,Schmidts M,Kispert A,Zariwala MA,Leigh MW,Knowles MR,Zentgraf H,Seithe H,Nürnberg G,Nürnberg P,Reinhardt R,Omran H

    更新日期：2009-12-01 00:00:00

  • HLA antigens in cardiomyopathic Chilean chagasics.

    abstract：:The distribution of HLA antigens in a sample of 124 Chagas serologically positive Chilean individuals was studied. The sample was subdivided according to the presence or absence of chagasic cardiomyopathy, in order to search for genetic differences associated with this pathological condition. The frequency of antigen ...

    journal_title：American journal of human genetics

    pub_type： 杂志文章

    doi：

    authors： Llop E,Rothhammer F,Acuña M,Apt W

    更新日期：1988-11-01 00:00:00