Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.

abstract：:Genome-wide association (GWA) studies have identified around 20 common genetic variants influencing the risk of type 2 diabetes (T2D). Likewise, a number of variants have been associated with diabetes-related quantitative glycaemic traits, but to date the overlap between these genes and variants has been low. The majo...

journal_title：Annals of human genetics

authors： Franklin CS,Aulchenko YS,Huffman JE,Vitart V,Hayward C,Polašek O,Knott S,Zgaga L,Zemunik T,Rudan I,Campbell H,Wright AF,Wild SH,Wilson JF

更新日期：2010-11-01 00:00:00

abstract：:The human population is heterogeneous in genetic susceptibility, chromosomal instability and disease risk; all factors which depend on inherited genetic constitution and acquired nongenetic environmental and occupational factors. Recently, special attention has been directed to the identification of sources of potenti...

journal_title：Annals of human genetics

authors： Hoyos-Giraldo LS,Escobar-Hoyos LF,Reyes-Carvajal I,García JJ,Córdoba L,Gómez AS,García-Vallejo F,Cajas-Salazar N,Carvajal S,Bedoya G

更新日期：2013-07-01 00:00:00

abstract：:Two clones, pCN1 and pCN2, which together form full-length cDNA for N-ras, were used to search for restriction fragment length polymorphisms. pCN2, which entirely consists of 3' non-translated sequences, revealed more bands on DNA transfer hybridizations than could be accounted for using the known restriction map of N...

journal_title：Annals of human genetics

authors： Middleton-Price H,Spurr N,Hall A,Malcolm S

更新日期：1988-07-01 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：:Animal studies have shown that the peroxime proliferator-activated receptor delta (PPARD) gene regulates glucose metabolism and insulin sensitivity. Genetic variation in the PPARD gene might affect physical endurance and has been associated with obesity. We investigated the independent and modifying effect of variants...

journal_title：Annals of human genetics

authors： Villegas R,Williams S,Gao Y,Cai Q,Li H,Elasy T,Cai H,Edwards T,Xiang YB,Zheng W,Long J,Ou Shu X

更新日期：2011-09-01 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：: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：: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：:The segregation of the Q-band polymorphisms in 32 families have been studied. From 90 matings in these families, there were a total of 208 offspring. In one of these offspring it could be shown that there had been a change of a fluorescent polymorphism, resulting in the loss of fluorescent intensity in the satellite o...

journal_title：Annals of human genetics

authors： Robinson JA,Buckton KE,Evans HJ

更新日期：1978-01-01 00:00:00

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

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

更新日期：2019-11-01 00:00:00

abstract：:Hereditary hearing impairment is the most genetically heterogeneous trait known in humans. So far, 50 published autosomal recessive non-syndromic hearing impairment (ARNSHI) loci have been mapped, and 23 ARNSHI genes have been identified. Here, we report the mapping of a novel ARNSHI locus, DFNB63, to chromosome 11q13...

journal_title：Annals of human genetics

authors： Tlili A,Masmoudi S,Dhouib H,Bouaziz S,Rebeh IB,Chouchen J,Turki K,Benzina Z,Charfedine I,Drira M,Ayadi H

更新日期：2007-03-01 00:00:00

abstract：:Non-random inheritance of the two parental haplotypes among siblings affected by certain diseases has long been used to provide evidence of the presence of disease susceptibility genes. The distribution of a powerful test, called Q, based on haplotype concordance and discordance, is derived under the null hypothesis o...

journal_title：Annals of human genetics

authors： Shah S,Green JR

更新日期：1994-05-01 00:00:00

abstract：:We aimed to evaluate the effect of four common variants (rs2237892, rs2283228, rs2237895, and rs2237897) in KCNQ1 on susceptibility of type 2 diabetes (T2D) by performing a case-control study as well as a comprehensive meta-analysis. We genotyped these four variants in two sets of Chinese Han population, comprising a ...

journal_title：Annals of human genetics

authors： Wang H,Miao K,Zhao J,Liu L,Cui G,Chen C,Wang DW,Ding H

更新日期：2013-09-01 00:00:00

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

authors： Alonso S,Armour JA

更新日期：2004-09-01 00:00:00

abstract：:Estimating haplotype relative risks in a family-based study is complicated by phase ambiguity and the many parameters needed to quantify relative risks for all possible diplotypes. This problem becomes manageable if a particular haplotype has been implicated previously as relevant to risk. We fit log-linear models to ...

journal_title：Annals of human genetics

authors： Shi M,Umbach DM,Weinberg CR

更新日期：2009-05-01 00:00:00

abstract：:Fourteen triploid spontaneous abortuses were studied cytogenetically by sequential Q and C banding and the marker chromosomes were compared with those of the parents. The abortuses comprised all triploid cases in a series of 288 consecutive abortuses of the first 16 weeks of pregnancy occurring in one hospital. In 12 ...

journal_title：Annals of human genetics

authors： Lauritsen JG,Bolund L,Friedrich U,Therkelsen AJ

更新日期：1979-07-01 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：: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

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

abstract：:A new AAT allele (PI Zbristol) has been discovered in a woman with an obstetric history of three perinatal deaths from fulminant liver disease and no living offspring. She and her father were both PI M1Zbristol heterozygotes. The Zbristol protein is active as a proteinase inhibitor but appeared to be deficient in the ...

journal_title：Annals of human genetics

authors： Lovegrove JU,Jeremiah S,Gillett GT,Temple IK,Povey S,Whitehouse DB

更新日期：1997-09-01 00:00:00

abstract：:By biochemical characterization of glucose-6-phosphate dehydrogenase (G6PD) from the red cells of seventeen subjects of the population of Matera (Southern Italy) we have identified six genetically determined common variants. Among these, G6PD Metaponto and G6PD A(-) Matera had been already fully characterized. We have...

journal_title：Annals of human genetics

authors： Viglietto G,Montanaro V,Calabrò V,Vallone D,D'Urso M,Persico MG,Battistuzzi G

更新日期：1990-01-01 00:00:00

abstract：:The expected power of genome-wide linkage disequilibrium (LD) testing for a low-frequency disease variant was examined using a simple genetic model in which the degree of LD between the disease variant and the adjacent single nucleotide polymorphism (SNP) marker decreases in proportion to the number of generations sin...

journal_title：Annals of human genetics

authors： Ohashi J,Tokunaga K

更新日期：2002-07-01 00:00:00

abstract：:The original transmission disequilibrium test (TDT), was introduced to test for linkage between a marker and a disease-susceptibility locus (Spielman et al. 1993). Allison (1997) extended the TDT procedure to quantitative traits. Allison's test, however, is restrictive in that it requires family trios consisting of on...

journal_title：Annals of human genetics

authors： Xiong MM,Krushkal J,Boerwinkle E

更新日期：1998-09-01 00:00:00

abstract：:1. The use of SDS electrophoresis as a tool for the analysis of development processes in man has been evaluated. 2. The protein profiles of cardiac and skeletal muscle from foetal (10--24 weeks gestation) infant and adult specimens have been analysed and striking developmental changes were found which involved all the...

journal_title：Annals of human genetics

authors： Tipler TD,Edwards YH,Hopkinson DA

更新日期：1978-05-01 00:00:00

abstract：BACKGROUND AND PURPOSE:Individuals with slow N-acetylation phenotype often experience toxicity from drugs such as isoniazid, sulfonamides, procainamide, and hydralazine, whereas rapid acetylators may not respond to these medications. The highly polymorphic N-acetyltransferase 2 enzyme encoded by the NAT2 gene is one of...

journal_title：Annals of human genetics

authors： Al-Ahmad MM,Amir N,Dhanasekaran S,John A,Abdulrazzaq YM,Ali BR,Bastaki S

更新日期：2017-09-01 00:00:00

abstract：:Two closely linked structural loci, D and 'CcEe', are proposed as the basis of the Rh blood groups. Mutation and unequal crossing-over between the two loci at meiosis are considered as possible explanations for some rare Rh complexes. The theory predicts that complexes arising from unequal crossing-over would be expec...

journal_title：Annals of human genetics

authors： Tippett P

更新日期：1986-07-01 00:00:00

abstract：:It has been shown that parametric analysis of linkage disequilibrium conditional on linkage using an overly deterministic model can be optimal for family-based association analysis. However, if one applies this strategy carelessly, there is a risk of false inference. We analyse properties of such likelihood ratio test...

journal_title：Annals of human genetics

authors： Hiekkalinna T,Göring HH,Terwilliger JD

更新日期：2012-01-01 00:00:00

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

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

更新日期：2012-01-01 00:00:00

abstract：:Sherman et al. (1984) concluded from a cytogenetic and genetic analysis of families with the marker (X) syndrome that the rate of the mutation leading to this syndrome is extraordinarily high (7.2 X 10(-4) in male germ cells), and that these mutations occur exclusively in male germ cells. It is shown by some model cal...

journal_title：Annals of human genetics

authors： Vogel F

更新日期：1984-10-01 00:00:00

abstract：:Measurements have been carried out on the gonads of 54 human foetuses, 29 males and 25 females. Crown-rump lengths ranged between 140 and 212 mm. The criteria used were fresh weight, total protein contents and total DNA contents. It was found that for any given crown-rump length class, the mean values of testes exceed...

journal_title：Annals of human genetics

authors： Mittwoch U

更新日期：1976-07-01 00:00:00

abstract：:The use of IBD proportions from a large set of affected sib-pair data to estimate some or all of the main parameters describing the inheritance of a disease susceptibility gene is here considered. We assume there is no recombination present and neglect ascertainment bias, and assume that there are four distinct parent...

journal_title：Annals of human genetics

authors： Green JR,Shah S

更新日期：1996-03-01 00:00:00