当前位置： SCI文献检索 > HUMAN GENETICS期刊下所有文献 > A review of genome-wide association studies for multiple sclerosis: classical and hypothesis-driven approaches.

A review of genome-wide association studies for multiple sclerosis: classical and hypothesis-driven approaches.

Abstract：

:Multiple sclerosis (MS) is a common complex neurodegenerative disease of the central nervous system. It develops with autoimmune inflammation and demyelination. Genome-wide association studies (GWASs) serve as a powerful tool for investigating the genetic architecture of MS and are generally used to identify the genetic factors of disease susceptibility, clinical phenotypes, and treatment response. This review considers the main achievements and challenges of using GWAS to identify the genes involved in MS. It also describes hypothesis-driven studies with extensive genome coverage of the selected regions, complementary to GWASs. To date, over 100 MS risk loci have been identified by the combination of both approaches; 40 of them were found in at least two GWASs and meet genome-wide significance threshold (p ≤ 5 × 10(-8)) in at least one GWAS, whereas the threshold for the rest of GWASs was set in our review at p < 1 × 10(-5). Yet, MS risk loci identified to date explain only a part of the total heritability, and the reasons of "missing heritability" are discussed. The functions of MS-associated genes are described briefly; the majority of them encode immune-response proteins involved in the main stages of MS pathogenesis.

journal_name

Hum Genet

journal_title

Human genetics

authors

Bashinskaya VV,Kulakova OG,Boyko AN,Favorov AV,Favorova OO

doi

10.1007/s00439-015-1601-2

subject

Has Abstract

pub_date

2015-11-01 00:00:00

pages

1143-62

issue

11-12

eissn

0340-6717

issn

1432-1203

pii

10.1007/s00439-015-1601-2

journal_volume

134

pub_type

杂志文章,评审

相关文献

HUMAN GENETICS文献大全
  • Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes.

    abstract：:One of the many potential uses of the HapMap project is its application to the investigation of complex disease aetiology among a wide range of populations. This study aims to assess the transferability of HapMap SNP data to the Spanish population in the context of cancer research. We have carried out a genotyping stu...

    journal_title：Human genetics

    pub_type： 杂志文章,评审

    doi：10.1007/s00439-005-0094-9

    authors： Ribas G,González-Neira A,Salas A,Milne RL,Vega A,Carracedo B,González E,Barroso E,Fernández LP,Yankilevich P,Robledo M,Carracedo A,Benítez J

    更新日期：2006-02-01 00:00:00

  • Assessment of autosome and gonosome disomy in human sperm nuclei by chromosome painting.

    abstract：:Disomy and diploidy frequencies for autosomes 1-22 and the gonosomes were assessed in 299,442 sperm nuclei from four normal fertile men by chromosome painting. This novel approach allowed us to perform a specific and sensitive detection of each chromosome. A minimum of 5000 sperm nuclei per subject were evaluated for ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390050751

    authors： Rives N,Mazurier S,Bellet D,Joly G,Macé B

    更新日期：1998-06-01 00:00:00

  • Assignment of the human hap retinoic acid receptor RAR beta gene to the p24 band of chromosome 3.

    abstract：:The human hap retinoic acid receptor RAR beta has been localized by in situ hybridization to the p24 band of chromosome 3. ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00702867

    authors： Mattei MG,de Thé H,Mattei JF,Marchio A,Tiollais P,Dejean A

    更新日期：1988-10-01 00:00:00

  • Lipoprotein lipase gene is in linkage with blood pressure phenotypes in Chinese pedigrees.

    abstract：:To elucidate the mechanism of lipid metabolism in the genesis of essential hypertension (EH), we linked blood pressure (BP) phenotypes with the lipoprotein lipase (LPL) gene. Variance component and sib-pair linkage models were used to test the relationship of the polymorphisms in the LPL gene region and EH in 148 Chin...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-004-1108-8

    authors： Yang W,Huang J,Ge D,Yao C,Duan X,Shen Y,Qiang B,Gu D

    更新日期：2004-06-01 00:00:00

  • Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family.

    abstract：:Autosomal dominant polycystic kidney disease is characterized by clinical and genetic heterogeneity. Two loci implicated in the disease have previously been mapped (PKD1 on chromosome 16 and PKD2 on chromosome 4). By two point and multipoint linkage analysis, negative lod scores have been found for both chromosome 16 ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00214191

    authors： de Almeida S,de Almeida E,Peters D,Pinto JR,Távora I,Lavinha J,Breuning M,Prata MM

    更新日期：1995-07-01 00:00:00

  • Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome.

    abstract：:Familial long QT syndrome (LQTS) is characterized by prolonged ventricular repolarization. Clinical symptoms include recurrent syncopal attacks, and sudden death may occur as a result of ventricular tachyarrhythmias. Three genes responsible for this syndrome (KVLQT1, HERG, and SCN5A) have been identified so far, and m...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390050717

    authors： Itoh T,Tanaka T,Nagai R,Kamiya T,Sawayama T,Nakayama T,Tomoike H,Sakurada H,Yazaki Y,Nakamura Y

    更新日期：1998-04-01 00:00:00

  • A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?

    abstract：:Hand-foot-genital syndrome (HFGS) is a dominantly inherited congenital malformation affecting the distal limbs and genitourinary tract. Here, we describe the phenotype and its molecular basis in a family that presented with HFGS. Genetic analysis revealed that the condition is caused by an 18-bp in-frame duplication w...

    journal_title：Human genetics

    pub_type： 杂志文章,评审

    doi：10.1007/s00439-002-0712-8

    authors： Utsch B,Becker K,Brock D,Lentze MJ,Bidlingmaier F,Ludwig M

    更新日期：2002-05-01 00:00:00

  • FTO influences on longitudinal BMI over childhood and adulthood and modulation on relationship between birth weight and longitudinal BMI.

    abstract：:SNP rs9939609 within the fat mass and obesity associated gene (FTO) is strongly associated with adult body mass index (BMI). However, influences of FTO on longitudinal BMI change from childhood to adulthood have not been examined. Knowledge is limited on FTO, modulating the association between birth weight and longitu...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-010-0883-7

    authors： Mei H,Chen W,Srinivasan SR,Jiang F,Schork N,Murray S,Smith E,So JD,Berenson GS

    更新日期：2010-12-01 00:00:00

  • Localization of the gene responsible for Peutz-Jeghers syndrome within a 6-cM region of chromosome 19p13.3.

    abstract：:Patients with Peutz-Jeghers syndrome (PJS), an autosomal dominant disease characterized by hamartomatous polyposis of the gastrointestinal tract, are thought to be predisposed to malignancies of the digestive tract, genital tract, and other organs. Using microsatellite markers on chromosome 19p, we have closely define...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390050678

    authors： Nakagawa H,Koyama K,Tanaka T,Miyoshi Y,Ando H,Baba S,Watatani M,Yasutomi M,Monden M,Nakamura Y

    更新日期：1998-02-01 00:00:00

  • Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis (NF1) gene.

    abstract：:We describe two polymorphic microsatellites in intron 27 of the neurofibromatosis type 1 (NF1) gene. The microsatellites consist of TG/AC and AC/TG dinucleotide repeats detecting five and seven alleles and with heterozygosities of 0.46 and 0.72, respectively. These microsatellites are useful tools both for direct and ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00212039

    authors： Lázaro C,Gaona A,Estivill X

    更新日期：1994-03-01 00:00:00

  • The "happy puppet" syndrome in two siblings.

    abstract：:Two siblings with the "happy puppet" syndrome are presented. Their clinical features are quite similar and closely resemble those of previously reported cases. These features include severe mental retardation, epileptic seizures, easily provoked and prolonged paroxysms of laughter, atactic jerky movements, hypotonia, ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00295701

    authors： Kuroki Y,Matsui I,Yamamoto Y,Ieshima A

    更新日期：1980-01-01 00:00:00

  • DNA finger printing by oligonucleotide probes specific for simple repeats.

    abstract：:Interspersed simple repetitive DNA is a convenient genetic marker for analysis of restriction fragment length polymorphisms (RFLPs) because of the numbers and the frequencies of its alleles. Oligonucleotide probes specific for variations of the GATCA simple repeats have been designed and hybridized to a panel of human...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00282541

    authors： Ali S,Müller CR,Epplen JT

    更新日期：1986-11-01 00:00:00

  • Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis.

    abstract：:Disorders of the anterior segment of the eye encompass a variety of clinical presentations including aniridia, Axenfeld and Rieger anomalies, primary congenital glaucoma, Peters anomaly, as well as syndromal associations. These conditions have a significant impact on vision due to disruption of the visual axis, and al...

    journal_title：Human genetics

    pub_type： 杂志文章,评审

    doi：10.1007/s00439-018-1935-7

    authors： Ma AS,Grigg JR,Jamieson RV

    更新日期：2019-09-01 00:00:00

  • Different inducibility and possible significance of several concomitant "fragile sites" in two brothers.

    abstract：:Concomitance of four fragile sites (at 16p13, 16q22, 16q23, Yq12) in the lymphocyte cultures of two brothers is reported. The expression of each of these fragile sites was enhanced (or induced) by different culture conditions. Some of the inducing conditions are already known and others are reported here for the first...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00278791

    authors： Shabtai F,Orlin J,Hart J,Halbrecht I,Klar D,Friedman J

    更新日期：1986-09-01 00:00:00

  • Malaria and hereditary ovalocytosis.

    abstract：:Hereditary ovalocytosis in Papua New Guinea is restricted to areas of endemic malaria and may confer increased resistance to the disease. The incidence of malaria was investigated in 1616 Melanesiams of known red cell morphology and severity of infection determined in a smaller subsample. Ovalocytics tended to be more...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00393579

    authors： Serjeantson S,Bryson K,Amato D,Babona D

    更新日期：1977-06-30 00:00:00

  • Incomplete penetrance in primary immunodeficiency: a skeleton in the closet.

    abstract：:Primary immunodeficiencies (PIDs) comprise a diverse group of over 400 genetic disorders that result in clinically apparent immune dysfunction. Although PIDs are classically considered as Mendelian disorders with complete penetrance, we now understand that absent or partial clinical disease is often noted in individua...

    journal_title：Human genetics

    pub_type： 杂志文章,评审

    doi：10.1007/s00439-020-02131-9

    authors： Gruber C,Bogunovic D

    更新日期：2020-06-01 00:00:00

  • X-linked steroid sulfatase: evidence for different gene-dosage in males and females.

    abstract：:Steroid sulfatase (STS) activities in female fibroblast strains are significantly higher than in male strains, as determined by cleavage of dehydroepiandrosterone sulfate. The difference is probably not due to hormonal control of gene expression, but suggests that for this X-linked locus there is no gene dosage compen...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00278971

    authors： Müller CR,Migl B,Traupe H,Ropers HH

    更新日期：1980-01-01 00:00:00

  • Structure of an abnormal messenger RNA for argininosuccinate synthetase in citrullinemia.

    abstract：:The structural abnormality of mRNA for argininosuccinate synthetase (ASS) and the structure of immune cross-reactive material for ASS (ASS-CRM) in the liver of a patient with type III citrullinemia were analyzed using dot and Northern blot hybridization, S1 nuclease analysis, and a sensitive enzyme-linked immunosorben...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00283045

    authors： Kobayashi K,Ichiki H,Saheki T,Tatsuno M,Uchiyama C,Nukada O,Yoda T

    更新日期：1987-05-01 00:00:00

  • Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset.

    abstract：:This paper presents some characteristics of the population genetics of primary congenital glaucoma in Slovakia. The overall incidence in Slovakia is 1:10,500, while being 1:1,250 in the Gypsy subpopulation of Slovakia and 1:22,000 in the non-Gypsy population. For a special type of congenital primary glaucoma, transmit...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00296440

    authors： Gencik A,Gencikova A,Ferák V

    更新日期：1982-01-01 00:00:00

  • Genetic mapping of 12 marker loci in the Xp22.3-p21.2 region.

    abstract：:To provide a more precise genetic map of the p22.3-p21.2 region on the short arm of the human X chromosome, we performed multilocus linkage studies in an expanded database including 31 retinoschisis families and 40 normal families. Twelve loci from this region were examined. Although significant lod scores were observ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00201548

    authors： Alitalo T,Kruse TA,Ahrens P,Albertsen HM,Eriksson AW,de la Chapelle A

    更新日期：1991-04-01 00:00:00

  • Familial benign hypercalcaemia (FBH; McK. No. 14598, 1983): linkage studies in a large Dutch family.

    abstract：:By screening 27 hypercalcaemic and 21 normocalcaemic subjects in a large Dutch pedigree with familial benign hypercalcaemia (FBH; McK. No. 14598) (McKusick 1983) for more than 35 genetic markers, it was found that linkage of FBH can be excluded at about 25 centimorgans (cM) from GM, 20 cM from ABO, 15 cM from MNS and ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00291409

    authors： Menko FH,Bijvoet OL,Meera Khan P,Nijenhuis LE,von Loghem E,Schreuder I,Bernini LF,Pronk JC,Madan K,Went LN

    更新日期：1984-01-01 00:00:00

  • RFLP haplotyping and mutation analysis of the phenylalanine hydroxylase gene in Dutch phenylketonuria families.

    abstract：:Restriction fragment length polymorphism haplotyping of mutated and normal phenylalanine hydroxylase (PAH) alleles in 49 Dutch phenylketonuria (PKU) families was performed. All mutant PAH chromosomes identified by haplotyping (n = 98) were screened for eight of the most predominant mutations. Compound heterozygosity w...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00420944

    authors： Meijer H,Jongbloed RJ,Hekking M,Spaapen LJ,Geraedts JP

    更新日期：1993-12-01 00:00:00

  • A girl with the Prader-Willi syndrome and Robertsonian translocation 45,XX,t(14;15)(p11;q11) which was present in three normal family members.

    abstract：:A 21-year-old girl with classical Prader-Willi Syndrome was found to have a 14;15 Robertsonian translocation--45,XX,t(14;15)(p11;q11). This type of Robertsonian translocation was not found in any patient from 8 surveys covering 6144 patients with mental retardation. Chromosome 15 has been involved in translocations in...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00291777

    authors： Smith A,Noel M

    更新日期：1980-01-01 00:00:00

  • A strategy for the characterization of minute chromosome rearrangements using multiple color fluorescence in situ hybridization with chromosome-specific DNA libraries and YAC clones.

    abstract：:The identification of marker chromosomes in clinical and tumor cytogenetics by chromosome banding analysis can create problems. In this study, we present a strategy to define minute chromosomal rearrangements by multicolor fluorescence in situ hybridization (FISH) with "whole chromosome painting" probes derived from c...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00420933

    authors： Popp S,Jauch A,Schindler D,Speicher MR,Lengauer C,Donis-Keller H,Riethman HC,Cremer T

    更新日期：1993-12-01 00:00:00

  • An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family.

    abstract：:Angelman syndrome is a neuro-developmental disorder caused by genetic abnormalities affecting the maternal gene expression in the chromosome region 15q11-q13. In a study group of 45 Finnish Angelman patients, a recurrence of a del(15)(q11q13) was detected in one family. The mother's chromosomes 15 were structurally no...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390000336

    authors： Kokkonen H,Leisti J

    更新日期：2000-07-01 00:00:00

  • ASP--a simulation-based power calculator for genetic linkage studies of qualitative traits, using sib-pairs.

    abstract：:An easy-to-use, simulation-based power calculator (ASP) for linkage analysis using sib-pair designs (concordant or discordant) has been developed and made publicly available via the Internet. The program employs a diallelic model for the trait locus, at which parental/offspring genotypes are simulated, assuming Hardy-...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-001-0634-x

    authors： Krawczak M

    更新日期：2001-12-01 00:00:00

  • Genome-wide genetic associations with IFNγ response to smallpox vaccine.

    abstract：:Smallpox is a deadly and debilitating disease that killed hundreds of millions of people in the past century alone. The use of Vaccinia virus-based smallpox vaccines led to the eradication of smallpox. These vaccines are remarkably effective, inducing the characteristic pustule or "take" at the vaccine site in >97 % o...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-012-1179-x

    authors： Kennedy RB,Ovsyannikova IG,Pankratz VS,Haralambieva IH,Vierkant RA,Jacobson RM,Poland GA

    更新日期：2012-09-01 00:00:00

  • G6PD Ciudad de la Habana: a new slow variant with deficiency found in a Cuban family.

    abstract：:A new G6PD variant has been detected in a Cuban male and there is no evidence of associated hematological abnormalities. The main characteristics of this variant, moderate deficiency, slow electrophoretic mobility, increased utilization of the substrate analogues, and a different chromatographic behavior, indicate tha...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00329141

    authors： González R,Estrada M,García M,Gutierrez A

    更新日期：1980-01-01 00:00:00

  • An apparent discrepancy between chain length and electrophoretic mobility of restriction fragments: a case of human mitochondrial DNA.

    abstract：:DNA sequence analysis and electrophoresis in denaturing gel revealed that a 60 base pair insertion which had been previously postulated on the basis of native polyacrylamide gel electrophoresis of mitochondrial DNA from Japanese (Horai and Matsunaga 1986) did not exist at all. Unusual behavior of certain restriction f...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00273844

    authors： Horai S,Inoue T,Matsunaga E

    更新日期：1987-01-01 00:00:00

  • Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

    abstract：:We describe a polymorphic microsatellite (IVS17BCA) in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It consists of an 11 to 20 CA/GT dinucleotide repeat, located 424 bp from exon 17B. ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00197276

    authors： Morral N,Girbau E,Zielenski J,Nunes V,Casals T,Tsui LC,Estivill X

    更新日期：1992-01-01 00:00:00