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The 14q restless legs syndrome locus in the French Canadian population.

https://arctichealth.org/en/permalink/ahliterature179886
Source
Ann Neurol. 2004 Jun;55(6):887-91
Publication Type
Article
Date
Jun-2004
Author
Anastasia Levchenko
Jacques-Yves Montplaisir
Marie-Pierre Dubé
Jean-Baptiste Riviere
Judith St-Onge
Gustavo Turecki
Lan Xiong
Pascale Thibodeau
Alex Desautels
Dominique J Verlaan
Guy A Rouleau
Author Affiliation
Centre for Research in Neuroscience, McGill University Health Centre Research Institute, Montreal General Hospital, Quebec, Canada.
Source
Ann Neurol. 2004 Jun;55(6):887-91
Date
Jun-2004
Language
English
Publication Type
Article
Keywords
Canada
Chromosome Mapping
Chromosomes, Human, Pair 14 - genetics
Family Health
Female
France - ethnology
Genes, Dominant
Genes, Recessive
Genetic Linkage
Genetic Predisposition to Disease
Genotype
Humans
Lod Score
Male
Pedigree
Restless Legs Syndrome - genetics
Abstract
A new restless legs syndrome locus on chromosome 14 recently has been reported in one family of Italian origin. Our study aimed to replicate this finding and determine the importance of this locus in the French Canadian population. Markers spanning the region were genotyped in 14 large families and linkage assessed using two-point and multipoint logarithm of odds scores. Possible linkage to this locus was found in one of our kindreds providing support for the existence of this locus and indicating that this locus may be responsible for a small fraction of French Canadian restless legs syndrome.
PubMed ID
15174026 View in PubMed
Less detail

Absence of linkage of phonological coding dyslexia to chromosome 6p23-p21.3 in a large family data set.

https://arctichealth.org/en/permalink/ahliterature204108
Source
Am J Hum Genet. 1998 Nov;63(5):1448-56
Publication Type
Article
Date
Nov-1998
Author
L L Field
B J Kaplan
Author Affiliation
Department of Medical Genetics, Faculty of Medicine, Alberta Children's Hospital, University of Calgary, Calgry, Alberta, Canada. field@ucalgary.ca
Source
Am J Hum Genet. 1998 Nov;63(5):1448-56
Date
Nov-1998
Language
English
Publication Type
Article
Keywords
African Continental Ancestry Group - genetics
Alberta
Alleles
Auditory Perception
Child
Chromosome Mapping
Chromosomes, Human, Pair 6
Dyslexia - genetics - physiopathology
Europe - ethnology
European Continental Ancestry Group - genetics
Gene Frequency
Genetic Linkage
Genetic markers
Genotype
Humans
Lod Score
Nuclear Family
Abstract
Previous studies have suggested that a locus predisposing to specific reading disability (dyslexia) resides on chromosome 6p23-p21.3. We investigated 79 families having at least two siblings affected with phonological coding dyslexia, the most common form of reading disability (617 people genotyped, 294 affected), and we tested for linkage with the genetic markers reported to be linked to dyslexia in those studies. No evidence for linkage was found by LOD score analysis or affected-sib-pair methods. However, using the affected-pedigree-member (APM) method, we detected significant evidence for linkage and/or association with some markers when we used published allele frequencies with weighting of rarer alleles. APM results were not significant when we used marker allele frequencies estimated from parents. Furthermore, results were not significant with the more robust SIMIBD method using either published or parental marker frequencies. Finally, family-based association analysis using the AFBAC program showed no evidence for association with any marker. We conclude that the APM method should be used only with extreme caution, because it appears to have generated false-positive results. In summary, using a large data set with high power to detect linkage, we were unable to find evidence for linkage or association between phonological coding dyslexia and chromosome 6p markers.
Notes
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Erratum In: Am J Hum Genet 1999 Jan;64(1):334
PubMed ID
9792873 View in PubMed
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Admixture mapping identifies a locus on 6q25 associated with breast cancer risk in US Latinas.

https://arctichealth.org/en/permalink/ahliterature128155
Source
Hum Mol Genet. 2012 Apr 15;21(8):1907-17
Publication Type
Article
Date
Apr-15-2012
Author
Laura Fejerman
Gary K Chen
Celeste Eng
Scott Huntsman
Donglei Hu
Amy Williams
Bogdan Pasaniuc
Esther M John
Marc Via
Christopher Gignoux
Sue Ingles
Kristine R Monroe
Laurence N Kolonel
Gabriela Torres-Mejía
Eliseo J Pérez-Stable
Esteban González Burchard
Brian E Henderson
Christopher A Haiman
Elad Ziv
Author Affiliation
Department of Medicine, Division of General Internal Medicine, Institute for Human Genetics and Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA 94158, USA.
Source
Hum Mol Genet. 2012 Apr 15;21(8):1907-17
Date
Apr-15-2012
Language
English
Publication Type
Article
Keywords
Breast Neoplasms - classification - genetics
Case-Control Studies
Chromosome Mapping
Chromosomes, Human, Pair 11 - genetics
Chromosomes, Human, Pair 6 - genetics
Estrogen Receptor alpha - genetics
European Continental Ancestry Group - genetics
Female
Gene Frequency
Genetic Loci
Genetic Predisposition to Disease
Genome-Wide Association Study
Genotype
Hispanic Americans - genetics
Humans
Microfilament Proteins - genetics
Polymorphism, Single Nucleotide
Risk factors
Abstract
Among US Latinas and Mexican women, those with higher European ancestry have increased risk of breast cancer. We combined an admixture mapping and genome-wide association mapping approach to search for genomic regions that may explain this observation. Latina women with breast cancer (n= 1497) and Latina controls (n= 1272) were genotyped using Affymetrix and Illumina arrays. We inferred locus-specific genetic ancestry and compared the ancestry between cases and controls. We also performed single nucleotide polymorphism (SNP) association analyses in regions of interest. Correction for multiple-hypothesis testing was conducted using permutations (P(corrected)). We identified one region where genetic ancestry was significantly associated with breast cancer risk: 6q25 [odds ratio (OR) per Indigenous American chromosome 0.75, 95% confidence interval (CI): 0.65-0.85, P= 1.1 × 10(-5), P(corrected)= 0.02]. A second region on 11p15 showed a trend towards association (OR per Indigenous American chromosome 0.77, 95% CI: 0.68-0.87, P= 4.3 × 10(-5), P(corrected)= 0.08). In both regions, breast cancer risk decreased with higher Indigenous American ancestry in concordance with observations made on global ancestry. The peak of the 6q25 signal includes the estrogen receptor 1 (ESR1) gene and 5' region, a locus previously implicated in breast cancer. Genome-wide association analysis found that a multi-SNP model explained the admixture signal in both regions. Our results confirm that the association between genetic ancestry and breast cancer risk in US Latinas is partly due to genetic differences between populations of European and Indigenous Americans origin. Fine-mapping within the 6q25 and possibly the 11p15 loci will lead to the discovery of the biologically functional variant/s behind this association.
Notes
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PubMed ID
22228098 View in PubMed
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Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer.

https://arctichealth.org/en/permalink/ahliterature210534
Source
Am J Hum Genet. 1996 Dec;59(6):1243-51
Publication Type
Article
Date
Dec-1996
Author
A L Moisio
P. Sistonen
J. Weissenbach
A. de la Chapelle
P. Peltomäki
Author Affiliation
Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.
Source
Am J Hum Genet. 1996 Dec;59(6):1243-51
Date
Dec-1996
Language
English
Publication Type
Article
Keywords
Adult
Age Factors
Age of Onset
Chromosome Mapping - methods
Colorectal Neoplasms, Hereditary Nonpolyposis - genetics
DNA Repair - genetics
DNA, Satellite - genetics
Finland
Genetic markers
Genetics, Population
Haplotypes - genetics
Humans
Linkage Disequilibrium
Middle Aged
Pedigree
Abstract
Two mutations in the DNA mismatch repair gene MLH1, referred to as mutations 1 and 2, are frequent among Finnish kindreds with hereditary nonpolyposis colorectal cancer (HNPCC). In order to assess the ages and origins of these mutations, we constructed a map of 15 microsatellite markers around MLH1 and used this information in haplotype analyses of 19 kindreds with mutation 1 and 6 kindreds with mutation 2. All kindreds with mutation 1 showed a single allele for the intragenic marker D3S1611 that was not observed on any unaffected chromosome. They also shared portions of a haplotype of 4-15 markers encompassing 2.0-19.0 cM around MLH1. All kindreds with mutation 2 shared another allele for D3S1611 and a conserved haplotype of 5-14 markers spanning 2.0-15.0 cM around MLH1. The degree of haplotype conservation was used to estimate the ages of these two mutations. While some recessive disease genes have been estimated to have existed and spread for as long as thousands of generations worldwide and hundreds of generations in the Finnish population, our analyses suggest that the spread of mutation 1 started 16-43 generations (400-1,075 years) ago and that of mutation 2 some 5-21 generations (125-525 years) ago. These datings are compatible with our genealogical results identifying a common ancestor born in the 16th and 18th century, respectively. Overall, our results indicate that all Finnish kindreds studied to date showing either mutation 1 or mutation 2 are due to single ancestral founding mutations relatively recent in origin in the population. Alternatively, the mutations arose elsewhere earlier and were introduced in Finland more recently.
Notes
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PubMed ID
8940269 View in PubMed
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Age-dependent penetrance and mapping of the locus for juvenile and early-onset open-angle glaucoma on chromosome 1q (GLC1A) in a French family.

https://arctichealth.org/en/permalink/ahliterature210795
Source
Hum Genet. 1996 Nov;98(5):567-71
Publication Type
Article
Date
Nov-1996
Author
A. Meyer
A. Béchetoille
F. Valtot
S. Dupont de Dinechin
M F Adam
A. Belmouden
A P Brézin
L. Gomez
J F Bach
H J Garchon
Author Affiliation
INSERM U25, Hôpital Necker, Paris, France.
Source
Hum Genet. 1996 Nov;98(5):567-71
Date
Nov-1996
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Age Factors
Canada
Child
Chromosome Mapping
Chromosomes, Human, Pair 1
Female
France - ethnology
Genetic Linkage
Glaucoma, Open-Angle - genetics
Haploidy
Humans
Lod Score
Male
Middle Aged
Pedigree
Phenotype
Software
Abstract
The GLC1A locus for autosomal dominant primary open-angle glaucoma (POAG) with juvenile onset (before 20 years) has been mapped to chromosome 1q21-q31. Recently, a French-Canadian family was described in which both juvenile-onset and middle-age or early-onset POAG were observed and linked to GLC1A. We now describe a second POAG family with variable age of onset (range 11-51, median 36 years of age). Linkage to GLC1A was established with a maximum lod score of 6.21 at the D1S452 locus. A recombination event in a severely glaucomatous patient restricted the distal boundary of the GLC1A interval proximal to the AFM154xc9 marker. This study strengthens the idea that early-onset POAG may also be determined by the GLC1A genetic region.
PubMed ID
8882876 View in PubMed
Less detail

Age-dependent recombination rates in human pedigrees.

https://arctichealth.org/en/permalink/ahliterature131367
Source
PLoS Genet. 2011 Sep;7(9):e1002251
Publication Type
Article
Date
Sep-2011
Author
Julie Hussin
Marie-Hélène Roy-Gagnon
Roxanne Gendron
Gregor Andelfinger
Philip Awadalla
Author Affiliation
Department of Biochemistry, Faculty of Medicine, University of Montreal, Montreal, Canada.
Source
PLoS Genet. 2011 Sep;7(9):e1002251
Date
Sep-2011
Language
English
Publication Type
Article
Keywords
Adult
Age Factors
Aneuploidy
Canada
Centromere - genetics
Chromosome Mapping
Chromosomes, Human, Pair 21 - genetics
Female
Genome, Human
Genotype
Humans
Maternal Age
Meiosis
Middle Aged
Nondisjunction, Genetic
Pedigree
Recombination, Genetic
Trisomy - genetics
Abstract
In humans, chromosome-number abnormalities have been associated with altered recombination and increased maternal age. Therefore, age-related effects on recombination are of major importance, especially in relation to the mechanisms involved in human trisomies. Here, we examine the relationship between maternal age and recombination rate in humans. We localized crossovers at high resolution by using over 600,000 markers genotyped in a panel of 69 French-Canadian pedigrees, revealing recombination events in 195 maternal meioses. Overall, we observed the general patterns of variation in fine-scale recombination rates previously reported in humans. However, we make the first observation of a significant decrease in recombination rates with advancing maternal age in humans, likely driven by chromosome-specific effects. The effect appears to be localized in the middle section of chromosomal arms and near subtelomeric regions. We postulate that, for some chromosomes, protection against non-disjunction provided by recombination becomes less efficient with advancing maternal age, which can be partly responsible for the higher rates of aneuploidy in older women. We propose a model that reconciles our findings with reported associations between maternal age and recombination in cases of trisomies.
Notes
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PubMed ID
21912527 View in PubMed
Less detail

Alleles at the dopamine D4 receptor locus do not contribute to the genetic susceptibility to schizophrenia in a large Swedish kindred.

https://arctichealth.org/en/permalink/ahliterature219623
Source
Am J Med Genet. 1993 Dec 15;48(4):218-22
Publication Type
Article
Date
Dec-15-1993
Author
C L Barr
J L Kennedy
J B Lichter
H H Van Tol
L. Wetterberg
K J Livak
K K Kidd
Author Affiliation
Department of Genetics, Yale University School of Medicine, New Haven, Connecticut.
Source
Am J Med Genet. 1993 Dec 15;48(4):218-22
Date
Dec-15-1993
Language
English
Publication Type
Article
Keywords
Alleles
Chromosome Mapping
Disease Susceptibility
Female
Genetic Linkage
Humans
Male
Pedigree
Receptors, Dopamine - genetics
Receptors, Dopamine D2
Receptors, Dopamine D4
Schizophrenia - genetics
Sweden
Abstract
The discovery of a functional polymorphism within the dopamine D4 receptor gene (DRD4) has not only strengthened the hypotheses implicating DRD4 in the etiology of neuropyschiatric disorders, but also provided a genetic marker for testing these hypotheses. The possibility of the dopamine D4 receptor as a candidate gene for schizophrenia was investigated in a large Swedish kindred segregating for schizophrenia. Linkage to schizophrenia was tested by linkage analyses of 6 polymorphic markers (at 4 loci) in chromosome 11p15.5 including the dopamine D4 receptor (DRD4) and the tyrosine hydroxylase (TH) loci. Schizophrenia was excluded from close linkage to the DRD4 locus using two of the polymorphisms located within the dopamine D4 receptor gene. The first DRD4 polymorphism consists of variation in the number of a 48 bp imperfect direct repeat in the third exon; the second consists of a variable number of repeated G nucleotides in the first intron. In addition, some of the individuals homozygous for four or seven copies of 48 bp repeat alleles were tested for previously reported sequence variation among repeats. No single haplotype of the DRD4 alleles or haplotype of other markers in chromosome 11p15.5 was found to be common to the schizophrenic individuals in this family. Therefore, we find no evidence for linkage of the D4 receptor, or this region of 11p15.5, with genetic susceptibility to schizophrenia in this kindred.
PubMed ID
8135305 View in PubMed
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Allelic association with SNPs: metrics, populations, and the linkage disequilibrium map.

https://arctichealth.org/en/permalink/ahliterature195078
Source
Hum Mutat. 2001 Apr;17(4):255-62
Publication Type
Article
Date
Apr-2001
Author
A. Collins
S. Ennis
P. Taillon-Miller
P Y Kwok
N E Morton
Author Affiliation
Human Genetics Research Division, University of Southampton, Southampton, UK.
Source
Hum Mutat. 2001 Apr;17(4):255-62
Date
Apr-2001
Language
English
Publication Type
Article
Keywords
Alleles
Chromosome Mapping
Finland
Gene Frequency - genetics
HLA Antigens - genetics
Haplotypes - genetics
Histocompatibility Antigens Class I - genetics
Humans
Likelihood Functions
Linkage Disequilibrium - genetics
Membrane Proteins
Models, Genetic
Molecular Sequence Data
Polymorphism, Single Nucleotide - genetics
Recombination, Genetic - genetics
X Chromosome - genetics
Abstract
Comparison of different metrics, using three large samples of haplotypes from different populations, demonstrates that rho is the most efficient measure of association between pairs of single nucleotide polymorphisms (SNPs). Pairwise data can be modeled, using composite likelihood, to describe the decline in linkage disequilibrium with distance (the Malecot model). The evidence from more isolated populations (Finland, Sardinia) suggests that linkage disequilibrium extends to 427-893 kb but, even in samples representative of large heterogeneous populations, such as CEPH, the extent is 385 kb or greater. This suggests that isolated populations are not essential for linkage disequilibrium mapping of common diseases with SNPs. The in parameter of the Malecot model (recombination and time), evaluated at each SNP, indicates regions of the genome with extensive and less extensive disequilibrium (low and high values of in respectively). When plotted against the physical map, the regions with extensive and less extensive linkage disequilibrium may correspond to recombination cold and hot spots. This is discussed in relation to the Xq25 cytogenetic band and the HFE gene region.
PubMed ID
11295822 View in PubMed
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Allergic rhinitis--a total genome-scan for susceptibility genes suggests a locus on chromosome 4q24-q27.

https://arctichealth.org/en/permalink/ahliterature15411
Source
Eur J Hum Genet. 2001 Dec;9(12):945-52
Publication Type
Article
Date
Dec-2001
Author
A. Haagerup
T. Bjerke
P O Schøitz
H G Binderup
R. Dahl
T A Kruse
Author Affiliation
Institute of Human Genetics, Aarhus University, Aarhus, Denmark. AH@humgen.au.dk
Source
Eur J Hum Genet. 2001 Dec;9(12):945-52
Date
Dec-2001
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Chromosome Mapping
Chromosomes, Human, Pair 4 - genetics
Denmark
Female
Genetic Predisposition to Disease
Humans
Lod Score
Male
Research Support, Non-U.S. Gov't
Rhinitis, Allergic, Perennial - genetics
Rhinitis, Allergic, Seasonal - genetics
Abstract
Allergic rhinitis is a common disease of complex inheritance and is characterised by mucosal inflammation caused by allergen exposure. The genetics of closely related phenotypes such as asthma, atopy and to some extend atopic dermatitis has attracted attention in recent years. Genetic reports of allergic rhinitis on the contrary have as yet been most sparse. To identify candidate regions holding genes for allergic rhinitis we performed a total genome-scan on affected sib-pair families. From 100 Danish sib-pair families selected for allergy, families containing sib-pairs matching a phenotype definition of both clinical allergic rhinitis and confirmed specific allergy were chosen. Thirty-three affected sib-pair families qualified for the scan that was undertaken using 446 microsatellite markers. Non-parametric linkage results were obtained from MAPMAKER/SIBS computer program. The study revealed one major candidate region on chromosome 4q24-q27 (LOD=2.83) and eight minor candidate regions 2q12-q33, 3q13, 4p15-q12, 5q13-q15, 6p24-p23, 12p13, 22q13, and Xp21 (LOD=1.04-1.63) likely to contain susceptibility genes for allergic rhinitis. Our findings did not support a previous report of linkage of allergic rhinitis to chromosome 12q14-q24 but they added positive evidence to the asthma and atopy candidate regions 2q33 and 6p23. Further identification of the specific genes involved in allergic rhinitis will give opportunities for improved diagnosis and treatment.
PubMed ID
11840197 View in PubMed
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