Admixture-matched case-control study: a practical approach for genetic association studies in admixed populations.

Abstract:

:Case-control genetic association studies in admixed populations are known to be susceptible to genetic confounding due to population stratification. The transmission/disequilibrium test (TDT) approach can avoid this problem. However, the TDT is expensive and impractical for late-onset diseases. Case-control study designs, in which, cases and controls are matched by admixture, can be an appealing and a suitable alternative for genetic association studies in admixed populations. In this study, we applied this matching strategy when recruiting our African American participants in the Study of African American, Asthma, Genes and Environments. Group admixture in this cohort consists of 83% African ancestry and 17% European ancestry, which was consistent with reports from other studies. By carrying out several complementary analyses, our results show that there is a substructure in the cohort, but that the admixture distributions are almost identical in cases and controls, and also in cases only. We performed association tests for asthma-related traits with ancestry, and only found that FEV(1), a measure for baseline pulmonary function, was associated with ancestry after adjusting for socio-economic and environmental risk factors (P=0.01). We did not observe an excess of type I error rate in our association tests for ancestry informative markers and asthma-related phenotypes when ancestry was not adjusted in the analyses. Furthermore, using the association tests between genetic variants in a known asthma candidate gene, beta(2) adrenergic receptor (beta(2)AR) and DeltaFEF(25-75), an asthma-related phenotype, as an example, we demonstrated population stratification was not a confounder in our genetic association. Our present work demonstrates that admixture-matched case-control strategies can efficiently control population stratification confounding in admixed populations.

journal_name

Hum Genet

journal_title

Human genetics

authors

Tsai HJ,Kho JY,Shaikh N,Choudhry S,Naqvi M,Navarro D,Matallana H,Castro R,Lilly CM,Watson HG,Meade K,Lenoir M,Thyne S,Ziv E,Burchard EG

doi

10.1007/s00439-005-0080-2

keywords:

subject

Has Abstract

pub_date

2006-01-01 00:00:00

pages

626-39

issue

5

eissn

0340-6717

issn

1432-1203

journal_volume

118

pub_type

杂志文章
  • Cytogenetic effects of influenza virus infection on male germ cells of mice.

    abstract::Swiss albino male mice were administered two doses (1 and 2 HA units) of influenza A2 Hong Kong/68 virus IP. The incidence of chromosomal anomalies in spermatocytes was analysed at various times post infection and was found to be significantly higher than in controls, indicating that the influenza virus had induced th...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00286960

    authors: Sharma G,Polasa H

    更新日期:1978-12-18 00:00:00

  • Sublocalization of von Willebrand factor pseudogene to 22q11.22-q11.23 by in situ hybridization in a 46,X,t(X;22)(pter;q11.21) translocation.

    abstract::The von Willebrand factor pseudogene, previously mapped to chromosome 22, was sublocalized by in situ hybridization using as probe a von Willebrand factor cDNA fragment completely contained in the pseudogenic region. Chromosome spreads were from a patient carrying a unique balanced de novo translocation 46,X,t(X;22)(p...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00285168

    authors: Patracchini P,Calzolari E,Aiello V,Palazzi P,Banin P,Marchetti G,Bernardi F

    更新日期:1989-10-01 00:00:00

  • Haplotype analysis of the linkage group HLA-A: HLA-B : Bf in Japanese.

    abstract::Three hundred four HLA-A : HLA-B : Bf haplotypes of the Japanese population as deduced by family analysis are described. Several linkage disequilibriums were observed in the following two-factor haplotypes: HLA-A and HLA-B, HLA-A and Bf, and HLA-B and Bf. Positive linkage disequilibriums between HLA-A and HLA-B noted ...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00283399

    authors: Horai S,Juji T,Nakajima H

    更新日期:1979-10-02 00:00:00

  • A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus.

    abstract::X-linked hydrocephalus (HSAS) is the most common form of inherited hydrocephalus characterized by hydrocephalus due to stenosis of the aqueduct of Sylvius, mental retardation, clasped thumbs, and spastic paraparesis. MASA syndrome (mental retardation, aphasia, shuffling gait and adducted thumbs) and SPG1 (X-linked com...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF02185770

    authors: Takechi T,Tohyama J,Kurashige T,Maruta K,Uyemura K,Ohi T,Matsukura S,Sakuragawa N

    更新日期:1996-03-01 00:00:00

  • Phenylketonuria mutations in Germany.

    abstract::We report the spectrum of mutations and associated modified haplotypes in patients with phenylketonuria living in Germany. A total of 546 independent alleles was investigated, including 411 of German and 65 of Turkish descent. Mutations were identified for 535 PKU alleles (98%) and there were 91 different mutations. T...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s004390050973

    authors: Zschocke J,Hoffmann GF

    更新日期:1999-05-01 00:00:00

  • A heritable fragile 12q24.13 segregating in a family with the fragile X chromosome.

    abstract::A fragile site on chromosome 12, at 12q24.13, was found in the lymphocytes of two members of a family during the study for detection of a fragile X chromosome. The site was found to be heritable and folate-sensitive, and it fulfills all four criteria for a fragile site. It thus can now be confirmed as the heritable fr...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00273829

    authors: Amarose AP,Huttenlocher PR,Sprudzs RM,Laitsch TJ,Pettenati MJ

    更新日期:1987-01-01 00:00:00

  • Homozygosity of adenylate kinase allele 3: two cases.

    abstract::The phenotype AK 3.3 in the isoenzyme system of human adenylate kinase has been found in two members of the Wayampi population of French Guiana. ...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00278843

    authors: Séger J,Tchen P,Feingold N,Grenand F,Bois E

    更新日期:1978-09-19 00:00:00

  • A molecular genetic approach to the identification of isochromosomes of chromosome 21.

    abstract::The largest class of de novo chromosomal rearrangements in Down syndrome are rea(21q21q). Classically, these rearrangements have been termed Robertsonian translocations, implying an attachment of two different chromosome 21 homologues. Additionally, a Robertsonian translocation between two chromosomes 21 cannot be dis...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00201838

    authors: Shaffer LG,Jackson-Cook CK,Meyer JM,Brown JA,Spence JE

    更新日期:1991-02-01 00:00:00

  • X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female.

    abstract::A de novo translocation (X;1)(q13.1;p36.33) was found in a 2-year-old girl with typical clinical features of X-linked anhidrotic ectodermal dysplasia (EDA). The breakpoint at Xq13.1 is approximately the same as has been described in 2 other EDA females with X;autosome translocations. ...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00200916

    authors: Limon J,Filipiuk J,Nedoszytko B,Mrózek K,Castrén M,Larramendy M,Roszkiewicz J

    更新日期:1991-07-01 00:00:00

  • Variability in allelic DNA methylation in spermatozoa.

    abstract::In certain segments of human DNA, the methylation of deoxycytidine residues has been found to be highly specific and interindividually conserved. Imprinted DNA sequences in diploid primary cells show allele-specific differences in DNA methylation, usually with the active chromosomal regions being unmethylated and the ...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00202872

    authors: Kochanek S,Renz D,Doerfler W

    更新日期:1994-08-01 00:00:00

  • Mechanisms of maternal aneuploidy: FISH analysis of oocytes and polar bodies in patients undergoing assisted conception.

    abstract::We have examined unfertilised oocytes and their first polar bodies (PBs) to determine the way in which the frequency of whole chromosome imbalance compares with that involving single chromatids and whether the precocious separation of chromatids prior to anaphase I affects all pairs of chromosomes. We have applied the...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s004390000310

    authors: Mahmood R,Brierley CH,Faed MJ,Mills JA,Delhanty JD

    更新日期:2000-06-01 00:00:00

  • Lactose digestion and the evolutionary genetics of lactase persistence.

    abstract::It has been known for some 40 years that lactase production persists into adult life in some people but not in others. However, the mechanism and evolutionary significance of this variation have proved more elusive, and continue to excite the interest of investigators from different disciplines. This genetically deter...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s00439-008-0593-6

    authors: Ingram CJ,Mulcare CA,Itan Y,Thomas MG,Swallow DM

    更新日期:2009-01-01 00:00:00

  • The T-->C mutation at position +96 of the untranslated region 3' to the terminating codon of the beta-globin gene is a rare polymorphism that does not cause a beta-thalassemia as previously ascribed.

    abstract::We have observed a T-->C mutation at position +96 of the untranslated region 3' to the terminating codon of the beta-globin gene in members of two Czech families and one black family. Data from initial studies suggested that this change was the cause of a beta-thalassemia, but continued analyses have provided convinci...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00218918

    authors: Divoky V,Baysal E,Oner R,Cürük MA,Walker EL 3rd,Indrak K,Huisman TH

    更新日期:1994-01-01 00:00:00

  • Malaria severity and human nitric oxide synthase type 2 (NOS2) promoter haplotypes.

    abstract::Nitric oxide (NO) mediates host resistance to severe malaria and other infectious diseases. NO production and mononuclear cell expression of the NO producing enzyme-inducible nitric oxide synthase (NOS2) have been associated with protection from severe falciparum malaria. The purpose of this study was to identify sing...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s00439-009-0753-3

    authors: Levesque MC,Hobbs MR,O'Loughlin CW,Chancellor JA,Chen Y,Tkachuk AN,Booth J,Patch KB,Allgood S,Pole AR,Fernandez CA,Mwaikambo ED,Mutabingwa TK,Fried M,Sorensen B,Duffy PE,Granger DL,Anstey NM,Weinberg JB

    更新日期:2010-02-01 00:00:00

  • Beta-thalassemia and beta[A] globin gene haplotypes in Mexican mestizos.

    abstract::B-globin haplotypes of 20 beta-thalassemia (beta-thal) and 87 beta(A) Mexican mestizo chromosomes were analyzed to ascertain the origin of the beta-thal alleles and the frequencies and distribution of the beta(A) haplotypes among northwestern Mexican mestizos. Sixteen beta-thal chromosomes carried six Mediterranean al...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s004390050395

    authors: Villalobos-Arámbula AR,Bustos R,Casas-Castañeda M,Gutiérrez E,Perea FJ,Thein SL,Ibarra B

    更新日期:1997-04-01 00:00:00

  • Hb D Los Angeles (D-Punjab) and Hb Presbyterian: analysis of the defect at the DNA level.

    abstract::Amplification of the beta-globin gene by the polymerase chain reaction (PCR) and direct sequencing were used for a fast and reliable identification of the beta-globin variant Hb D Los Angeles and revealed the predicted G----C substitution in codon 121. The same method showed the molecular defect in Hb Presbyterian to ...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00196236

    authors: Schnee J,Aulehla-Scholz C,Eigel A,Horst J

    更新日期:1990-03-01 00:00:00

  • Determining the incidence of rare diseases.

    abstract::Extremely rare diseases are increasingly recognized due to wide-spread, inexpensive genomic sequencing. Understanding the incidence of rare disease is important for appreciating its health impact and allocating recourses for research. However, estimating incidence of rare disease is challenging because the individual ...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s00439-020-02135-5

    authors: Bainbridge MN

    更新日期:2020-05-01 00:00:00

  • Electrophoretic variants of blood proteins in Japanese. III. Triosephosphate isomerase.

    abstract::A total of 15,387 individuals living in Hiroshima and Nagasaki, of whom 10,864 are unrelated, were examined for erythrocyte triosephosphate isomerase (TPI) by starch gel electrophoresis using TEMM buffer, pH 7.4. Four kinds of new variants, one having a cathodal migration and three having anodal migrations, were encou...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00279312

    authors: Asakawa J,Satoh C,Takahashi N,Fujita M,Kaneko J,Goriki K,Hazama R,Kageoka T

    更新日期:1984-01-01 00:00:00

  • Genetic polymorphisms associated with rubella virus-specific cellular immunity following MMR vaccination.

    abstract::Rubella virus causes a relatively benign disease in most cases, although infection during pregnancy can result in serious birth defects. An effective vaccine has been available since the early 1970s and outbreaks typically do not occur among highly vaccinated (≥2 doses) populations. Nevertheless, considerable inter-in...

    journal_title:Human genetics

    pub_type: 杂志文章,meta分析

    doi:10.1007/s00439-014-1471-z

    authors: Kennedy RB,Ovsyannikova IG,Haralambieva IH,Lambert ND,Pankratz VS,Poland GA

    更新日期:2014-11-01 00:00:00

  • TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.

    abstract::Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a myocardial disease characterized by fibro-fatty replacement of right ventricular free wall myocardium and life-threatening ventricular arrhythmias. A missense mutation, c.1073C>T (p.S358L) in the transmembrane protein 43 (TMEM43) gene, has been genetically id...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s00439-013-1323-2

    authors: Baskin B,Skinner JR,Sanatani S,Terespolsky D,Krahn AD,Ray PN,Scherer SW,Hamilton RM

    更新日期:2013-11-01 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

  • Apolipoprotein B amino acid 3611 substitution from arginine to glutamine creates the Ag (h/i) epitope: the polymorphism is not associated with differences in serum cholesterol and apolipoprotein B levels.

    abstract::A G- to A-DNA sequence change in exon 26 of the human apolipoprotein B (apo B) gene leads to a glutamine substitution for arginine at codon 3611 of the mature apolipo-protein B100 and causes a loss of an MspI site. In 106 Finnish individuals, a complete correspondence exists between this MspI polymorphic site and the ...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00273990

    authors: Xu CF,Nanjee N,Tikkanen MJ,Huttunen JK,Pietinen P,Bütler R,Angelico F,Del Ben M,Mazzarella B,Antonio R

    更新日期:1989-07-01 00:00:00

  • Chromosomes in the Cornelia de Lange syndrome.

    abstract::This paper summarizes previous chromosomal studies in patients with the Cornelia de Lange syndrome showing abnormal karyotypes. We report on 45 cases of the Cornelia de Lange syndrome clinically examined by one of us (B.B.) and chromosomally studied using several different methods. Two abnormal karyotypes were found: ...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00295457

    authors: Beck B,Mikkelsen M

    更新日期:1981-01-01 00:00:00

  • An extension of the weighted dissimilarity test to association study in families.

    abstract::Association studies for complex diseases based on pedigree haplotype or genotype data have received increasing attention in the last few years. The similarity tests are appealing for these studies because they take into account of the DNA structure, but they have blind areas on which significant association can not be...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s00439-007-0376-5

    authors: Yuan A,Yue Q,Apprey V,Bonney G

    更新日期:2007-08-01 00:00:00

  • Responses to booster hepatitis B vaccination are significantly correlated with genotypes of human leukocyte antigen (HLA)-DPB1 in neonatally vaccinated adolescents.

    abstract::Genome-wide association studies have identified single nucleotide polymorphisms (SNPs) near the human leukocyte antigen (HLA)-DP loci that were significantly correlated with outcomes of hepatitis B virus (HBV) infection. We performed a case-control study nested in a well-characterized cohort of booster recipients to a...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/s00439-013-1320-5

    authors: Wu TW,Chu CC,Ho TY,Chang Liao HW,Lin SK,Lin M,Lin HH,Wang LY

    更新日期:2013-10-01 00:00:00

  • Identification of a PIG-A related processed gene on chromosome 12.

    abstract::PIG-A, the gene encoding the glycoinositol phospholipid anchor synthetic element that is defective in paroxysmal nocturnal hemoglobinuria (PNH), resides on the X chromosome. In the course of analyses of PIG-A genetic alterations in PNH patients, polymerase chain reaction (PCR) amplification of reverse-transcribed RNA ...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00209489

    authors: Nagarajan S,Brown CJ,Medof ME

    更新日期:1995-06-01 00:00:00

  • Linkage relationships of the apolipoprotein C1 gene and a cytochrome P450 gene (CYP2A) to myotonic dystrophy.

    abstract::We have studied the genetic linkage of two markers, the apolipoprotein C1 (APOC1) gene and a cytochrome P450 (CYP2A) gene, in relation to the gene for myotonic dystrophy (DM). A peak lod score of 9.29 at 2 cM was observed for APOC1-DM, with a lod score of 8.55 at 4 cM for CYP2A-DM. These two markers also show close li...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00206751

    authors: Walsh KV,Harley HG,Brook JD,Rundle SA,Sarfarazi M,Harper PS,Shaw DJ

    更新日期:1990-08-01 00:00:00

  • Meiotic arrest at first spermatocyte level: a new inherited infertility disorder.

    abstract::Three 46,XY phenotypically male, azoospermic brothers out of thirteen sibs from a consanguineous marriage were studied and found to have a unique pattern of testicular histology with arrest of spermatogenesis at the pachytene stage of primary spermatocytes. Endocrinological evaluation showed elevated plasma luteinizin...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00295476

    authors: Cantú JM,Rivas F,Hernández-Jáuregui P,Díaz M,Cortés-Gallegos V,Vaca G,Velázquez A,Ibarra B

    更新日期:1981-01-01 00:00:00

  • "Premature anaphase" in a couple with recurrent miscarriages.

    abstract::An increased frequency of mitoses with centromere separation affecting all chromosomes was found in lymphocyte cultures from a couple with recurrent spontaneous abortions. The phenomenon was observed in both the wife and husband. The abnormal behaviour of centromeres may predispose the individual to cell division erro...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF01247341

    authors: Bajnóczky K,Gardó S

    更新日期:1993-10-01 00:00:00

  • A myeloblastin/proteinase-3 cDNA clone identifies a BglII and a PvuII restriction fragment length polymorphism.

    abstract::A myeloblastin/proteinase-3 (MBN/PR-3) cDNA probe detects two bi-allelic (BglII, PvuII) DNA polymorphisms. These restriction fragment length polymorphisms provide new genetic markers on chromosome 19. ...

    journal_title:Human genetics

    pub_type: 杂志文章

    doi:10.1007/BF00216465

    authors: Schwaller J,Chen T,Fey MF,Tobler A

    更新日期:1993-11-01 00:00:00