Using case-parent triads to estimate relative risks associated with a candidate haplotype.

abstract：:Atypical hemolytic uremic syndrome (aHUS) is caused by several susceptibility genes. A registry including analyses of susceptibility genes, familial occurrence and genotype-phenotype correlation should provide classification insights. Registry data of 187 unrelated index patients included age at onset, gender, family ...

journal_title：Annals of human genetics

authors： Sullivan M,Erlic Z,Hoffmann MM,Arbeiter K,Patzer L,Budde K,Hoppe B,Zeier M,Lhotta K,Rybicki LA,Bock A,Berisha G,Neumann HP

更新日期：2010-01-01 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：: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：: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：:Allelic transmission rates from parents to cases are frequently stratified by an environmental risk factor E and compared, with heterogeneity interpreted as gene-environment interaction or GxE. Though generally invalid, such analyses continue to appear. We revisit why heterogeneity is not equivalent to GxE in a range ...

journal_title：Annals of human genetics

authors： Shin JH,McNeney B,Graham J

更新日期：2010-09-01 00:00:00

abstract：:Alpha2-HS glycoprotein (AHSG), which is equivalent to fetuin in other species, is a protein found in human plasma. AHSG is polymorphic with two common alleles and many variants. To examine the intragenic haplotypes and their diversity at this locus, a contiguous genomic DNA sequence (10.3 kb) was analyzed in 20 sample...

journal_title：Annals of human genetics

authors： Osawa M,Yuasa I,Kitano T,Henke J,Kaneko M,Udono T,Saitou N,Umetsu K

更新日期：2001-01-01 00:00:00

abstract：:The marriages contracted between 1600 and 1850 in the parishes Vang and Slidre in the mountain valley of Valdres in Norway were investigated, using the information in the genealogical and local history of the parishes and in various public archives. The parishes functioned as a marriage isolate, in spite of regular co...

journal_title：Annals of human genetics

authors： Saugstad LF,Odegård O

更新日期：1977-05-01 00:00:00

abstract：:We described a new genetic polymorphism of human platelet polypeptide, detected by two-dimensional polyacrylamide gel electrophoresis followed by silver-staining. The polymorphism was tentatively designated thrombocyte B (ThB) with a molecular weight of 34 kDa and isoelectric point of 4.7-4.8. In this polypeptide, thr...

journal_title：Annals of human genetics

authors： Kajii E,Iwamoto S,Omi T,Ikemoto S

更新日期：1991-05-01 00:00:00

abstract：:Electrophoretic analysis of the Ps protein demonstrated the existence of phenotypes additional to those described by Azen & Denniston (1980). A hypothesis that the polymorphism of the Ps protein is determined by five expressed and one unexpressed alleles was supported by family studies. The gene frequencies in a Japan...

journal_title：Annals of human genetics

authors： Minaguchi K,Shirotani T,Suzuki K

更新日期：1988-01-01 00:00:00

abstract：:Familial hypercholesterolemia (FH) is caused by mutations in the genes for LDLR, APOB or PCSK9, and identification of the causative mutation provides definitive diagnosis so that the patient can be treated, their relatives tested and, therefore, premature heart disease prevented. DNA of eight unrelated individuals wit...

journal_title：Annals of human genetics

authors： Pećin I,Whittall R,Futema M,Sertić J,Reiner Z,Leigh SE,Humphries SE

更新日期：2013-01-01 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：:Numerous functional studies have implicated PARL in relation to type 2 diabetes (T2D). We hypothesised that conflicting human association studies may be due to neighbouring causal variants being in linkage disequilibrium (LD) with PARL. We conducted a comprehensive candidate gene study of the extended LD genomic regio...

journal_title：Annals of human genetics

authors： Direk K,Lau W,Small KS,Maniatis N,Andrew T

更新日期：2014-09-01 00:00:00

abstract：:Height and body mass index (BMI) have high heritability in most studies. High BMI and reduced height are well-recognized as important risk factors for a number of cardiovascular diseases. We investigated these phenotypes in African American families originally ascertained for studies of linkage with type 2 diabetes us...

journal_title：Annals of human genetics

authors： Sale MM,Freedman BI,Hicks PJ,Williams AH,Langefeld CD,Gallagher CJ,Bowden DW,Rich SS

更新日期：2005-09-01 00:00:00

abstract：:The medieval history of several populations often suffers from scarcity of contemporary records resulting in contradictory and sometimes biased interpretations by historians. This is the situation with the population of the island of Crete, which remained relatively undisturbed until the Middle Ages when multiple wars...

journal_title：Annals of human genetics

authors： Drineas P,Tsetsos F,Plantinga A,Lazaridis I,Yannaki E,Razou A,Kanaki K,Michalodimitrakis M,Perez-Jimenez F,De Silvestro G,Renda MC,Stamatoyannopoulos JA,Kidd KK,Browning BL,Paschou P,Stamatoyannopoulos G

更新日期：2019-11-01 00:00:00

abstract：:In case-control association studies unobserved population stratification may act as a confounder, leading to an increased number of false positive results. Methods accounting for population structure by using additional genetic markers broadly follow one of two concepts: Genomic Control (GC) and Structured Association...

journal_title：Annals of human genetics

authors： Köhler K,Bickeböller H

更新日期：2006-01-01 00:00:00

abstract：:It is often assumed that Afrikaners stem from a small number of Dutch immigrants. As a result they should be genetically homogeneous, show founder effects and be rather inbred. By disentangling my own South African pedigree, that is on average 12 generations deep, I try to quantify the genetic heritage of an Afrikaner...

journal_title：Annals of human genetics

authors： Greeff JM

更新日期：2007-09-01 00:00:00

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

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

更新日期：2000-01-01 00:00:00

abstract：:Glycated hemoglobin (HbA1c) is used to classify glycaemia and type 2 diabetes (T2D). Body mass index (BMI) is a predictor of HbA1c levels and T2D. We tested 43 established BMI and obesity loci for association with HbA1c in a nationally representative multiethnic sample of young adults from the National Longitudinal St...

journal_title：Annals of human genetics

authors： Lange LA,Graff M,Lange EM,Young KL,Richardson AS,Mohlke KL,North KE,Harris KM,Gordon-Larsen P

更新日期：2016-09-01 00:00:00

abstract：:Population-based genetic association analysis may suffer from the failure to control for confounders such as population stratification (PS). There has been extensive study on the influence of PS on candidate gene-disease association analysis, but much less attention has been paid to its influence on marker-disease ass...

journal_title：Annals of human genetics

authors： Li T,Li Z,Ying Z,Zhang H

更新日期：2010-07-01 00:00:00

abstract：:The Fifth International workshop on chromosome 9 comprised a gathering of 36 scientists from seven countries and included a fairly even distribution of interests along chromosome 9 as well as a strong input from more global activities and from comparative mapping. At least eight groups had participated in the goal set...

journal_title：Annals of human genetics

authors： Povey S,Attwood J,Chadwick B,Frezal J,Haines JL,Knowles M,Kwiatkowski DJ,Olopade OI,Slaugenhaupt S,Spurr NK,Smith M,Steel K,White JA,Pericak-Vance MA

更新日期：1997-05-01 00:00:00

abstract：:The gene MUC3 which codes for a mucin expressed in intestine (Gum et al. 1990) has previously been mapped, using somatic cell hybrids, to chromosome 7. We describe here the regional localization of MUC3 to chromosome 7q22 by in situ hybridization. Preliminary linkage analysis using CEPH (Centre d'Etude du Polymorphism...

journal_title：Annals of human genetics

authors： Fox MF,Lahbib F,Pratt W,Attwood J,Gum J,Kim Y,Swallow DM

更新日期：1992-10-01 00:00:00

abstract：:The mitochondrial DNA variation of 295 Berber-speakers from Morocco (Asni, Bouhria and Figuig) and the Egyptian oasis of Siwa was evaluated by sequencing a portion of the control region (including HVS-I and part of HVS-II) and surveying haplogroup-specific coding region markers. Our findings show that the Berber mitoc...

journal_title：Annals of human genetics

authors： Coudray C,Olivieri A,Achilli A,Pala M,Melhaoui M,Cherkaoui M,El-Chennawi F,Kossmann M,Torroni A,Dugoujon JM

更新日期：2009-03-01 00:00:00

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

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

更新日期：1986-05-01 00:00:00

abstract：:An immunological method for the detection of two thyroxine-binding plasma proteins, thyroxine-binding globulin (TBG) and thyroxine-binding prealbumin (TBPA), following polyacrylamide gel isoelectric focusing is described. Both proteins show complex electrophoretic patterns, attributable to post-translational glycosyla...

journal_title：Annals of human genetics

authors： Whitehouse DB,Hopkinson DA,Hill AV,Bowden DK

更新日期：1985-10-01 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：:MUC1 is a highly polymorphic mucin type glycoprotein expressed on the surface of many epithelia, including gastric mucosa, and is present in several body fluids and mucous secretions. A genetic polymorphism due to variation in length of a 60 bp tandemly repeated sequence domain constitutes more than half of the coding...

journal_title：Annals of human genetics

authors： Carvalho F,Peixoto A,Steffensen R,Amorim A,David L,Sobrinho-Simões M

更新日期：1999-05-01 00:00:00

abstract：:Using genetic data from an obesity candidate gene study of self-reported African Americans and European Americans, we investigated the number of Ancestry Informative Markers (AIMs) and candidate gene SNPs necessary to infer continental ancestry. Proportions of African and European ancestry were assessed with STRUCTURE...

journal_title：Annals of human genetics

authors： Kodaman N,Aldrich MC,Smith JR,Signorello LB,Bradley K,Breyer J,Cohen SS,Long J,Cai Q,Giles J,Bush WS,Blot WJ,Matthews CE,Williams SM

更新日期：2013-01-01 00:00:00

abstract：:Peripheral blood from six patients with Huntington's disease (HD) and six controls were cultured in three types of media known to produce fragile sites. A total of 3000 metaphases per group were scrutinized in a blind coded study. No significantly specific 'hot-spot' was found capable of differentiating between HD pat...

journal_title：Annals of human genetics

authors： Beverstock GC,Mol A,Wienhofer E

更新日期：1985-10-01 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：:The large literature on family-based tests of association and/or linkage is reviewed, concentrating on the underlying principles and on recent methodological developments. We explain the distinction between testing for association and testing for linkage, and give our views on the circumstances in which each is the ap...

journal_title：Annals of human genetics

authors： Whittaker JC,Morris AP

更新日期：2001-09-01 00:00:00