Loci contributing to adult height and body mass index in African American families ascertained for type 2 diabetes.

abstract：:The robust sib-pair method introduced by Haseman & Elston (1972) is one of the most widely circulated allele-sharing methods for linkage analysis. The procedure evaluates linkage by significance testing of a regression coefficient and, hence, a standard t-test has traditionally been applied despite known violations of...

journal_title：Annals of human genetics

authors： Wan Y,Cohen J,Guerra R

更新日期：1997-01-01 00:00:00

abstract：:The Regression of Offspring on Mid-Parent (ROMP) method is a test of association between a quantitative trait and a candidate locus. ROMP estimates the trait heritability and the heritability attributable to a locus and requires genotyping the offspring only. In this study, the theory underlying ROMP was revised (ROMP...

journal_title：Annals of human genetics

authors： Roy-Gagnon MH,Mathias RA,Fallin MD,Jee SH,Broman KW,Wilson AF

更新日期：2008-01-01 00:00:00

abstract：:Polymorphisms of the triggering receptor expressed on myeloid cells 2 (TREM2) gene have been reported to be potentially associated with the risks of developing frontotemporal lobar degeneration (FTLD), with inconsistent conclusions. This study aims to comprehensively investigate the potential role of TREM2 variants in...

journal_title：Annals of human genetics

authors： Su WH,Shi ZH,Liu SL,Wang XD,Liu S,Ji Y

更新日期：2018-07-01 00:00:00

abstract：:Inbreeding patterns over the past two centuries have been studied more extensively in Spain and Italy than anywhere else in Europe. Consanguinity studies in mainland Spain have shown that populations settled along the Cantabrian cornice share inbreeding patterns that distinguish them from other populations further sou...

journal_title：Annals of human genetics

authors： Calderón R,Aresti U,Ambrosio B,González-Martín A

更新日期：2009-03-01 00:00:00

abstract：:We have studied the impact of natural selection through stillbirth on the Italian population, taking into account the socio-economic heterogeneity of the country. The results suggest that older age at delivery and lower cultural level of the mothers, indicators of critical biological and socio-economic conditions, eve...

journal_title：Annals of human genetics

authors： Zonta LA,Astolfi P,Ulizzi L

更新日期：1997-03-01 00:00:00

abstract：:Case-parent triad data are considered a robust basis for studying association between variants of a gene and a disease. Methods evaluating statistical significance of association, like the TDT-test and its extensions, are frequently used. When there are prior hypotheses of a causal effect of the gene under study, howe...

journal_title：Annals of human genetics

authors： Gjessing HK,Lie RT

更新日期：2006-05-01 00:00:00

abstract：:Candidate gene association tests are currently performed using several intragenic SNPs simultaneously, by testing SNP haplotype or genotype effects in multifactorial diseases or traits. The number of haplotypes drastically increases with an increase in the number of typed SNPs. As a result, large numbers of haplotypes...

journal_title：Annals of human genetics

authors： Sha Q,Dong J,Jiang R,Zhang S

更新日期：2005-11-01 00:00:00

abstract：:Nitric oxide is an important antiatherosclerotic agent. The main determinant of nitric oxide levels is enzyme nitric oxide synthase encoded by the NOS3 gene, the common variants in this gene may be responsible for variations in plasma enzyme levels. The association of NOS3 variants with coronary artery disease (CAD) v...

journal_title：Annals of human genetics

authors： Shahid SU,Shabana.,Rehman A

更新日期：2017-07-01 00:00:00

abstract：:Epidemiological evidence on gene-environment effects of the G-protein beta-3 subunit C825T polymorphisms and sodium on blood pressure in the free-living general population is limited. We examined the associations between the C825T polymorphism and blood pressure levels, stratified by the sodium variables estimated by ...

journal_title：Annals of human genetics

authors： Yamagishi K,Tanigawa T,Cui R,Tabata M,Ikeda A,Yao M,Shimamoto T,Iso H

更新日期：2006-11-01 00:00:00

abstract：:Apparently identical twin boys are both XX/XY and have two populations, A1 and B, of cells in their peripheral blood. Chimerism in somatic tissue outside the blood cells can be demonstrated in only one of the twins. From analysis of chromosomes and many gene markers the mechanism of origin of the unusual twins remains...

journal_title：Annals of human genetics

authors： Iselius L,Lambert B,Lindsten J,Tippett P,Gavin J,Daniels G,Yates A,Ritzén M,Sandstedt B

更新日期：1979-10-01 00:00:00

abstract：:Mutations in SLC26A4 cause Pendred syndrome (PS) - hearing loss with goitre - or DFNB4 - non-syndromic hearing loss (NSHL) with inner ear abnormalities such as Enlarged Vestibular Aqueduct (EVA) or Mondini Dysplasia (MD). We tested 303 unrelated Czech patients with early hearing loss (298 with NSHL and 5 with PS), all...

journal_title：Annals of human genetics

authors： Pourová R,Janousek P,Jurovcík M,Dvoráková M,Malíková M,Rasková D,Bendová O,Leonardi E,Murgia A,Kabelka Z,Astl J,Seeman P

更新日期：2010-07-01 00:00:00

abstract：:We estimate the population genetics parameter FST (also referred to as the fixation index) from short tandem repeat (STR) allele frequencies, comparing many worldwide human subpopulations at approximately the national level with continental-scale populations. FST is commonly used to measure population differentiation,...

journal_title：Annals of human genetics

authors： Steele CD,Court DS,Balding DJ

更新日期：2014-11-01 00:00:00

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

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

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

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

更新日期：2014-07-01 00:00:00

abstract：:The human dopamine transporter (hDAT) participates in dopamine homeostasis by clearing dopamine from the extracellular space using secondary active transport. Dysregulation of hDAT has been reported to be associated with different neuropsychiatric disorders. Dopamine transporter deficiency syndrome (DTDS) is a complex...

journal_title：Annals of human genetics

authors： Heidari E,Razmara E,Hosseinpour S,Tavasoli AR,Garshasbi M

更新日期：2020-07-01 00:00:00

abstract：:A genome-wide association study of serum uric acid (SUA) laevels was performed in a relatively isolated population of European descent from an island of the Adriatic coast of Croatia. The study sample included 532 unrelated and 768 related individuals from 235 pedigrees. Inflation due to relatedness was controlled by ...

journal_title：Annals of human genetics

authors： Karns R,Zhang G,Sun G,Rao Indugula S,Cheng H,Havas-Augustin D,Novokmet N,Rudan D,Durakovic Z,Missoni S,Chakraborty R,Rudan P,Deka R

更新日期：2012-03-01 00:00:00

abstract：:Complex segregation analysis was conducted in a series of patients with hereditary non-polyposis colorectal cancer (HNPCC) ascertained through probands registered in the Cancer Registry of the Health Care District of Modena in Northern Italy. Altogether there were 71 nuclear families segregating for HNPCC in 28 pedigr...

journal_title：Annals of human genetics

authors： Scapoli C,Ponz De Leon M,Sassatelli R,Benatti P,Roncucci L,Collins A,Morton NE,Barrai I

更新日期：1994-07-01 00:00:00

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

authors： Lauder IJ

更新日期：1977-07-01 00:00:00

abstract：:Exact probability and likelihood computation on complex pedigrees is often infeasible, since exact methods are too computationally intensive even with today's computing technology. A statistical tool, Markov chain Monte Carlo (MCMC), is increasingly being explored as a technique for estimating probabilities of genotyp...

journal_title：Annals of human genetics

authors： Lin S,Thompson E,Wijsman E

更新日期：1994-10-01 00:00:00

abstract：:Recently statements have been made about a special 'genetic homogeneity' of the Icelanders that are at variance with earlier work on blood groups and allozymes. To validate these claims an extensive reanalysis was undertaken of mtDNA variation by examining primary data from original sources on 26 European populations....

journal_title：Annals of human genetics

authors： Arnason E

更新日期：2003-01-01 00:00:00

abstract：:We describe a novel method for analysis of marker genotype data from admixed populations, based on a hybrid of Bayesian and frequentist approaches in which the posterior distribution is generated by Markov chain simulation and score tests are obtained from the missing-data likelihood. We analysed data on unrelated ind...

journal_title：Annals of human genetics

authors： McKeigue PM,Carpenter JR,Parra EJ,Shriver MD

更新日期：2000-03-01 00:00:00

abstract：:The Kell blood group locus (KEL) is tightly linked to the prolactin-inducible protein locus (PIP) with zeta = 9.12 at theta = 0.00 for combined paternal and maternal meioses. In view of the regional localization of PIP to 7q32-q36 (Myal et al. 1989a), a similar assignment for KEL is favoured. ...

journal_title：Annals of human genetics

authors： Zelinski T,Coghlan G,Myal Y,Shiu RP,Philipps S,White L,Lewis M

更新日期：1991-05-01 00:00:00

abstract：:The genomic DNA-probe L2.30 was used to assign D2S1 to 2p23-pter by in situ hybridization. The RFLP revealed by BglII was then used for linkage studies in the Oslo-NHIK families segregating for the acid phosphatase ACP1 protein polymorphism. Evidence for very close linkage was found by a lod score of +17.17 at recombi...

journal_title：Annals of human genetics

authors： Lothe RA,Gedde-Dahl T,Olaisen B,Bakker E,Pearson P

更新日期：1986-10-01 00:00:00

abstract：:Heterogeneity of the recombination fraction may or may not involve a mixture of two groups of elements. For the mixture situation (families with or without linkage between two gene loci), Morton's homogeneity test is compared with another test (Admixture test) with respect to significance level, power, parameter estim...

journal_title：Annals of human genetics

authors： Ott J

更新日期：1983-10-01 00:00:00

abstract：:Retinoid X Receptor beta (RXRB) is a member of the retinoid X receptor (RXR) family of nuclear receptors which are involved in mediating the effects of retinoic acid (RA). We have confirmed the localization of RXRB to chromosome 6 and we have mapped the gene to chromosome 6p21.3-p21.1 by PCR amplification of 5' untran...

journal_title：Annals of human genetics

authors： Fitzgibbon J,Gillett GT,Woodward KJ,Boyle JM,Wolfe J,Povey S

更新日期：1993-07-01 00:00:00

abstract：:Phosphoglycolate phosphatase (PGP) exhibits a wide range of activities in normal human red cells. Analysis of blood from 57 individuals of known PGP phenotype revealed no correlation between enzyme activity, electrophoretic phenotype or 2,3-DPG concentration. Neither was there evidence of variation in Km, heat stabili...

journal_title：Annals of human genetics

authors： Turner VS,Hopkinson DA

更新日期：1981-05-01 00:00:00

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

authors： Monaco AP

更新日期：2007-09-01 00:00:00

abstract：:Haplotype analysis is important for mapping traits. Recently, methods for estimating haplotype frequencies from genotypes of unrelated individuals based on the expectation-maximization (EM) algorithm have been developed. Our program estimates haplotype frequencies in the population and determines the posterior probabi...

journal_title：Annals of human genetics

authors： Kitamura Y,Moriguchi M,Kaneko H,Morisaki H,Morisaki T,Toyama K,Kamatani N

更新日期：2002-05-01 00:00:00

abstract：:It is shown that in the equilibrium position with respect to the assortative mating process given by Fisher's (1918) model, the population is in linkage disequilibrium, contrary to a result given by Vetta (1975). ...

journal_title：Annals of human genetics

authors： Wilson SR

更新日期：1978-07-01 00:00:00

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

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