Posterior probability of linkage and maximal lod score.

Abstract:

:To detect linkage between a trait and a marker, Morton (1955) proposed to calculate the lod score z(theta 1) at a given value theta 1 of the recombination fraction. If z(theta 1) reaches +3 then linkage is concluded. However, in practice, lod scores are calculated for different values of the recombination fraction between 0 and 0.5 and the test is based on the maximum value of the lod score Zmax. The impact of this deviation of the test on the probability that in fact linkage does not exist, when linkage was concluded, is documented here. This posterior probability of no linkage can be derived by using Bayes' theorem. It is less than 5% when the lod score at a predetermined theta 1 is used for the test. But, for a Zmax of +3, we showed that it can reach 16.4%. Thus, considering a composite alternative hypothesis instead of a single one decreases the reliability of the test. The reliability decreases rapidly when Zmax is less than +3. Given a Zmax of +2.5, there is a 33% chance that linkage does not exist. Moreover, the posterior probability depends not only on the value of Zmax but also jointly on the family structures and on the genetic model. For a given Zmax, the chance that linkage exists may then vary.

journal_name

Ann Hum Genet

journal_title

Annals of human genetics

authors

Génin E,Martinez M,Clerget-Darpoux F

doi

10.1111/j.1469-1809.1995.tb01610.x

subject

Has Abstract

pub_date

1995-01-01 00:00:00

pages

123-32

issue

1

eissn

0003-4800

issn

1469-1809

journal_volume

59

pub_type

杂志文章
  • Association of interleukin-10-1082 (-1087) A > G polymorphisms and periodontitis risk: An updated meta-analysis based on 26 case-control studies.

    abstract:BACKGROUND:The association between interleukin-10 (IL-10)-1082 (-1087) A > G polymorphism and either chronic (CP) or aggressive periodontitis (AgP) susceptibility was conflicting. This meta-analysis aimed to quantitatively estimate the association. METHODS:Pubmed, Embase, Web of Science, and WANFAN databases were sear...

    journal_title:Annals of human genetics

    pub_type: 杂志文章,meta分析

    doi:10.1111/ahg.12321

    authors: Li Y,Hu B,Feng G,Chen Q,Zhu M,Ying S,Song J

    更新日期:2019-09-01 00:00:00

  • Using age of onset to distinguish between subforms of breast cancer.

    abstract::Information on family history and age of onset of breast cancer is examined in an attempt to distinguish between postulated early and late onset forms of breast cancer and to estimate the familial correlation between any subforms that may exist. Data are taken from the Cancer and Steroid Hormone Study, a multicentre, ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.1990.tb00373.x

    authors: Claus EB,Risch NJ,Thompson WD

    更新日期:1990-05-01 00:00:00

  • On the performance of multiple imputation based on chained equations in tackling missing data of the African α3.7 -globin deletion in a malaria association study.

    abstract::Multiple imputation based on chained equations (MICE) is an alternative missing genotype method that can use genetic and nongenetic auxiliary data to inform the imputation process. Previously, MICE was successfully tested on strongly linked genetic data. We have now tested it on data of the HBA2 gene which, by the exp...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/ahg.12065

    authors: Sepúlveda N,Manjurano A,Drakeley C,Clark TG

    更新日期:2014-07-01 00:00:00

  • Subtypes of HLA-DQ and -DR defined by DQB1 and DRB1 RFLPs: allele frequencies in the general population and in insulin-dependent diabetes (IDDM) and multiple sclerosis patients.

    abstract::We have used the HLA-DQB1 gene as a Southern hybridization probe with TaqI-digested genomic DNA in a study of 600 haplotypes from unrelated individuals and have characterized HLA-DQB1 RFLP patterns associated with the DR specificities DR1-DRw10 and DN1. For six of the specificities (DR2, 4, w6, 7, w8 and 9), we have a...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.1989.tb01802.x

    authors: Gogolin KJ,Kolaga VJ,Baker L,Lisak RP,Zmijewski CM,Spielman RS

    更新日期:1989-10-01 00:00:00

  • A genome-based study of consanguinity in three co-resident endogamous Pakistan communities.

    abstract::In a study based on 173 individuals drawn from three endogamous, co-resident communities in the province of Punjab, the Awan, Khattar and Rajpoot, an analysis of 10 autosomal single tandem repeats on chromosomes 13 and 15 revealed distinctive genetic profiles in each community. A total of 99 different alleles were det...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1017/S0003480000007946

    authors: Wang W,Sullivan SG,Ahmed S,Chandler D,Zhivotovsky LA,Bittles AH

    更新日期:2000-01-01 00:00:00

  • Significance levels in genome-wide interaction analysis (GWIA).

    abstract::Interaction between genetic variants is hypothesized to be one of several putative explanations for the 'case of missing heritability.' Therefore, Genome-Wide Interaction Analysis (GWIA) has recently gained substantial interest. GWIA is computationally challenging and respective power type I error studies are particul...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.2010.00610.x

    authors: Becker T,Herold C,Meesters C,Mattheisen M,Baur MP

    更新日期:2011-01-01 00:00:00

  • Tracing quantitative measurements on human chromosomes in family studies.

    abstract::Statistical methods are developed for tracing quantitative measurements on human chromosomes from parents to offspring. Tests for transmission are briefly considered. ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.1977.tb01963.x

    authors: Lauder IJ

    更新日期:1977-07-01 00:00:00

  • Similarities in anthropometrical traits of children and their parents in a Bulgarian population.

    abstract::A study has been made of 36 body and 11 craniofacial measurements in a selected sample of 251 Bulgarian families, comprising parents and their children over 15 years. The mid parent-offspring and correlation coefficients indicate that the extent of genetic determination varies considerably from one measurement to anot...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.1996.tb01618.x

    authors: Nikolova M

    更新日期:1996-11-01 00:00:00

  • PTPN22 gene polymorphism (C1858T) is associated with susceptibility to type 1 diabetes: a meta-analysis of 19,495 cases and 25,341 controls.

    abstract::The protein tyrosine phosphatase N22 (PTPN22) gene C1858T polymorphism has been reported to be associated with susceptibility to type 1 diabetes (T1D) in relatively small sample sizes. This study aimed at investigating the pooled association by carrying out a meta-analysis on the published studies. The Medline, EBSCO,...

    journal_title:Annals of human genetics

    pub_type: 杂志文章,meta分析

    doi:10.1111/ahg.12016

    authors: Xuan C,Lun LM,Zhao JX,Wang HW,Zhu BZ,Yu S,Liu Z,He GW

    更新日期:2013-05-01 00:00:00

  • On avoiding statistical bias in linkage-based counselling.

    abstract::Using the Succession Rule of Laplace (1795) and related reasoning, this paper shows how to give unbiased counselling to patients when predictions are to be based on small samples. The recombination fraction can be regarded as a probability parameter, theta, which itself has a probability distribution between the limit...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.1990.tb00388.x

    authors: Renwick JH

    更新日期:1990-10-01 00:00:00

  • Linkage between the loci for peptidase D and cytochrome P-450 (CYP1) on chromosome 19.

    abstract::Families segregating for PEPD have been investigated for linkage between PEPD and CYP1. The results provide evidence for close linkage between PEPD and CYP1 in males. ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.1987.tb00862.x

    authors: Davis MB

    更新日期:1987-01-01 00:00:00

  • Association of CTLA-4 polymorphisms with increased risks of myasthenia gravis.

    abstract::Myasthenia gravis (MG) is considered to be a kind of autoimmune disorder resulting from dysfunction of neuromuscular transmission caused by autoantibodies against the nicotinic acetylcholine receptors. A number of studies have identified Cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) as a candidate gene for MG. ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章,meta分析

    doi:10.1111/ahg.12262

    authors: Li F,Yuan W,Wu X

    更新日期:2018-11-01 00:00:00

  • Refined association mapping for a quantitative trait: weight in the H19-IGF2-INS-TH region.

    abstract::Previous analyses have provided evidence for one or more loci affecting body weight in the H19-IGF2-INS-TH region on chromosome 11p15. To identify the location of a possible causal locus or loci we applied association analysis by composite likelihood to a large cohort under the Malecot model for body weight. A random ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.2006.00290.x

    authors: Zhang W,Maniatis N,Rodriguez S,Miller GJ,Day IN,Gaunt TR,Collins A,Morton NE

    更新日期:2006-11-01 00:00:00

  • Association of the methylenetetrahydrofolate reductase gene A1298C polymorphism with male infertility: a meta-analysis.

    abstract::Published data on the association between the methylenetetrahydrofolate reductase (MTHFR) gene A1298C (rs1801131) polymorphism and male infertility risk are inconclusive. To derive a more precise estimation of the relationship, a meta-analysis was performed. In this meta-analysis, a total of seven case-control studies...

    journal_title:Annals of human genetics

    pub_type: 杂志文章,meta分析

    doi:10.1111/j.1469-1809.2011.00691.x

    authors: Shen O,Liu R,Wu W,Yu L,Wang X

    更新日期:2012-01-01 00:00:00

  • Genetic association studies in complex disease: disentangling additional predisposing loci from associated neutral loci using a constrained - permutation approach.

    abstract::In the process of genetically mapping a complex disease, the question may arise whether a certain polymorphism is the only causal variant in a region. A number of methods can answer this question, but unfortunately these methods are optimal for bi-allelic loci only. We wanted to develop a method that is more suited fo...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1046/j.1529-8817.2004.00129.x

    authors: Spijker GT,Nolte IM,Jansen RC,Te Meerman GJ

    更新日期:2005-01-01 00:00:00

  • Development of a microsatellite-based approach to co-segregation analysis of familial hypercholesterolaemic kindreds.

    abstract::Co-segregation studies based on a selection of intragenic restriction fragment length polymorphisms of the low density lipoprotein receptor (LDLR) gene have been used extensively both for research and diagnostic studies of familial hypercholesterolaemia (FH) families, because direct mutation screening remains complex....

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1046/j.1469-1809.1997.6160497.x

    authors: Haddad L,Day LB,Attwood J,Povey S,Humphries SE,Day IN

    更新日期:1997-11-01 00:00:00

  • Compound haplotypes at Xp11.23 and human population growth in Eurasia.

    abstract::To investigate patterns of diversity and the evolutionary history of Eurasians, we have sequenced a 2.8 kb region at Xp11.23 in a sample of African and Eurasian chromosomes. This region is in a long intron of CLCN5 and is immediately flanked by a highly variable minisatellite, DXS255, and a human-specific Ta0 LINE. Co...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1046/j.1529-8817.2003.00115.x

    authors: Alonso S,Armour JA

    更新日期:2004-09-01 00:00:00

  • Drug addiction and stress-response genetic variability: association study in African Americans.

    abstract::Stress is a significant risk factor in the development of drug addictions and in addiction relapse susceptibility. This hypothesis-driven study was designed to determine if specific SNPs in genes related to stress response are associated with heroin and/or cocaine addiction in African Americans. The analysis included ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/ahg.12064

    authors: Levran O,Randesi M,Li Y,Rotrosen J,Ott J,Adelson M,Kreek MJ

    更新日期:2014-07-01 00:00:00

  • Mitochondrial portrait of the Cabo Verde archipelago: the Senegambian outpost of Atlantic slave trade.

    abstract::In order to study the matrilineal genetic composition in Cabo Verde (Republic of Cape Verde), an archipelago that used to serve as a Portuguese entrepôt of the Atlantic slave trade, we have analysed a total of 292 mtDNAs sampled from the seven inhabited islands for the hypervariable segment I (HVS-I) and some characte...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1017/S0003480001001002

    authors: Brehm A,Pereira L,Bandelt HJ,Prata MJ,Amorim A

    更新日期:2002-01-01 00:00:00

  • Association study of M235T and A-6G polymorphisms in angiotensinogen gene with risk of developing preeclampsia in Iranian population.

    abstract:OBJECTIVE:Preeclampsia (PE) is a life-threatening complication of pregnancy that accounts for 12% of all maternal deaths worldwide. The aim of this study is to investigate the relationships between the polymorphisms of angiotensinogen (AGT) gene and preeclampsia. MATERIAL AND METHODS:In this study, 240 unrelated preec...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/ahg.12323

    authors: Alaee E,Mirahmadi M,Ghasemi M,Kashani E,Attar M,Shahbazi M

    更新日期:2019-11-01 00:00:00

  • C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease.

    abstract::We set out to determine whether expansions in the C9ORF72 repeat found in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) families are associated with Parkinson disease (PD). We determined the repeat size in a total of 889 clinically ascertained patients (including PD and essential tremor plus Pa...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/ahg.12033

    authors: Nuytemans K,Bademci G,Kohli MM,Beecham GW,Wang L,Young JI,Nahab F,Martin ER,Gilbert JR,Benatar M,Haines JL,Scott WK,Züchner S,Pericak-Vance MA,Vance JM

    更新日期:2013-09-01 00:00:00

  • Maternal and paternal lineages of the Samaritan isolate: mutation rates and time to most recent common male ancestor.

    abstract::The Samaritan community is a small, isolated, and highly endogamous group numbering some 650 members who have maintained extensive genealogical records for the past 13-15 generations. We performed mutation detection experiments on mitochondrial DNAs and Y chromosomes from confirmed maternal and paternal lineages to es...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1046/j.1469-1809.2003.00024.x

    authors: Bonné-Tamir B,Korostishevsky M,Redd AJ,Pel-Or Y,Kaplan ME,Hammer MF

    更新日期:2003-03-01 00:00:00

  • A report of the first biennial meeting on Capita Selecta in Complex Disease Analysis (CSCDA2010), Leuven, Belgium, August 25-27, 2010.

    abstract::There is a need for interdisciplinary assessments and interpretations of -omics underpinnings of human complex diseases. However, often investigators from different, yet overlapping, disciplines experience difficulties in understanding the other discipline's language and there is a clear need for establishing a platfo...

    journal_title:Annals of human genetics

    pub_type:

    doi:10.1111/j.1469-1809.2011.00659.x

    authors: Van Steen K,Sleegers K

    更新日期:2011-07-01 00:00:00

  • Adenylate kinases in man: evidence for a third locus.

    abstract::The tissue distribution of the adenylate kinase isozymes in man has been examined using various substrates. The isozymes attributable to the AK1 and AK2 loci were identified, and an additional set of isozymes probably attributable to a third locus was also found. This locus has been provisionally designated AK3. The A...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.1976.tb00134.x

    authors: Wilson DE,Povey S,Harris H

    更新日期:1976-01-01 00:00:00

  • Chromosomal assignment of seven human genomic DNA sequences associated with restriction fragment length polymorphisms.

    abstract::Seven phage clones containing human sequences were picked at random from a human genomic library cloned in Charon 4A. The clones are devoid of repetitive sequences and can be used to recognize restriction fragment length polymorphisms (Feder et al. 1985). The chromosomal locations of the sequences defined by the seven...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.1986.tb01033.x

    authors: Spurr NK,Feder J,Bodmer WF,Goodfellow PN,Solomon E,Cavalli-Sforza LL

    更新日期:1986-05-01 00:00:00

  • Testing the genetic relation between two individuals using a panel of frequency-unknown single nucleotide polymorphisms.

    abstract::The author proposes a method to test the genetic relation between two individuals using a panel of SNPs. The method does not require information about the allele frequencies, and as such it can be used to test any pair of individuals from any population(s). ...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1046/j.1529-8817.2003.00063.x

    authors: Lee WC

    更新日期:2003-11-01 00:00:00

  • Multivariate linkage analysis of specific language impairment (SLI).

    abstract::Specific language impairment (SLI) is defined as an inability to develop appropriate language skills without explanatory medical conditions, low intelligence or lack of opportunity. Previously, a genome scan of 98 families affected by SLI was completed by the SLI Consortium, resulting in the identification of two quan...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.2007.00361.x

    authors: Monaco AP

    更新日期:2007-09-01 00:00:00

  • Portability of tag SNPs across isolated population groups: an example from India.

    abstract::Isolated population groups are useful in conducting association studies of complex diseases to avoid various pitfalls, including those arising from population stratification. Since DNA resequencing is expensive, it is recommended that genotyping be carried out at tagSNP (tSNP) loci. For this, tSNPs identified in one i...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.2006.00383.x

    authors: Sarkar Roy N,Farheen S,Roy N,Sengupta S,Majumder PP

    更新日期:2008-01-01 00:00:00

  • Variable selection method for quantitative trait analysis based on parallel genetic algorithm.

    abstract::Selection of important genetic and environmental factors is of strong interest in quantitative trait analyses. In this study, we use parallel genetic algorithm (PGA) to identify genetic and environmental factors in genetic association studies of complex human diseases. Our method can take account of both multiple mark...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.2009.00548.x

    authors: Mukhopadhyay S,George V,Xu H

    更新日期:2010-01-01 00:00:00

  • The tissue distribution of hexosaminidase S and hexosaminidase C.

    abstract::The proportion of hex S to hex C in normal and Sandhoff's fibroblasts was determined to be between 1:1 and 1:2 by differential staining of hex S at pH 4.4 with 4-methylumbelliferyl-beta-N-acetylgalactosaminide and of hex C at pH 7.0 with 4-methylumbelliferyl-beta-N-acetylglucosaminide. Hex S and hex C were also semi-q...

    journal_title:Annals of human genetics

    pub_type: 杂志文章

    doi:10.1111/j.1469-1809.1977.tb01911.x

    authors: Beutler E,Kuhl W

    更新日期:1977-10-01 00:00:00