Skip header and navigation

Refine By

1868 records – page 1 of 187.

The 1 alpha-hydroxylase locus is not linked to calcium stone formation or calciuric phenotypes in French-Canadian families.

https://arctichealth.org/en/permalink/ahliterature206213
Source
J Am Soc Nephrol. 1998 Mar;9(3):425-32
Publication Type
Article
Date
Mar-1998
Author
P. Scott
D. Ouimet
Y. Proulx
M L Trouvé
G. Guay
B. Gagnon
L. Valiquette
A. Bonnardeaux
Author Affiliation
Service de Néphrologie, Hôpital Maisonneuve-Rosemont, Montreal, Quebec, Canada.
Source
J Am Soc Nephrol. 1998 Mar;9(3):425-32
Date
Mar-1998
Language
English
Publication Type
Article
Keywords
25-Hydroxyvitamin D3 1-alpha-Hydroxylase - genetics - metabolism
Adult
Calcium - urine
Canada
European Continental Ancestry Group - genetics
Family Health
Female
France - ethnology
Genetic Linkage
Genetic Markers - genetics
Humans
Kidney Calculi - enzymology - genetics
Male
Middle Aged
Nuclear Family
Pedigree
Phenotype
Vitamin D - blood
Abstract
Calcium urolithiasis is often associated with increased intestinal absorption and urine excretion of calcium, and has been suggested to result from increased vitamin D production. The role of the enzyme 1 alpha-hydroxylase, the rate-limiting step in active vitamin D production, was evaluated in 36 families, including 28 sibships with at least a pair of affected sibs, using qualitative and quantitative trait linkage analyses. Sibs with a verified calcium urolithiasis passage (n = 117) had higher 24-h calciuria (P = 0.03), oxaluria (P = 0.02), fasting and postcalcium loading urine calcium/creatinine (Ca/cr) ratios (P = 0.008 and P = 0.002, respectively), and serum 1,25(OH)2 vitamin D levels (P = 0.02) compared with nonstone-forming sibs (n = 120). Markers from a 9-centiMorgan interval encompassing the VDD1 locus on chromosome 12q13-14 (putative 1 alpha-hydroxylase) were analyzed in 28 sibships (146 sib pairs) of single and recurrent stone formers and in 14 sibships (65 sib pairs) with recurrent-only (> or = 3 episodes) stone-forming sibs. Two-point and multipoint analyses did not reveal excess in alleles shared among affected sibs at the VDD1 locus. Linkage of stone formation to the VDD1 locus could be excluded, respectively, with a lambda d of 2.0 (single and recurrent stone formers) and 3.25 (recurrent stone formers). Quantitative trait analyses revealed no evidence for linkage to 24-h calciuria and oxaluria, serum 1,25(OH)2 vitamin D levels, and Ca/cr ratios. This study shows absence of linkage of the putative 1 alpha-hydroxylase locus to calcium stone formation or to quantitative traits associated with idiopathic hypercalciuria. In addition, there is coaggregation of calciuric and oxaluric phenotypes with stone formation.
PubMed ID
9513904 View in PubMed
Less detail

The 2 Ã? 2 model of perfectionism: a comparison across Asian Canadians and European Canadians.

https://arctichealth.org/en/permalink/ahliterature123132
Source
J Couns Psychol. 2012 Oct;59(4):567-74
Publication Type
Article
Date
Oct-2012
Author
Véronique Franche
Patrick Gaudreau
Dave Miranda
Author Affiliation
School of Psychology, University of Ottawa, Jacques Lussier, ON, Canada. vfran053@uottawa.ca
Source
J Couns Psychol. 2012 Oct;59(4):567-74
Date
Oct-2012
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Asian Continental Ancestry Group - psychology
Canada
Cross-Cultural Comparison
Educational Status
Emigrants and Immigrants - psychology
European Continental Ancestry Group - psychology
Factor Analysis, Statistical
Female
Humans
Male
Middle Aged
Models, Psychological
Personal Satisfaction
Personality
Students - psychology
Abstract
The 2 Ã? 2 model of perfectionism posits that the 4 within-person combinations of self-oriented and socially prescribed perfectionism (i.e., pure SOP, mixed perfectionism, pure SPP, and nonperfectionism) can be distinctively associated with psychological adjustment. This study examined whether the relationship between the 4 subtypes of perfectionism proposed in the 2 Ã? 2 model (Gaudreau & Thompson, 2010) and academic outcomes (i.e., academic satisfaction and grade-point average [GPA]) differed across 2 sociocultural groups: Asian Canadians and European Canadians. A sample of 697 undergraduate students (23% Asian Canadians) completed self-report measures of dispositional perfectionism, academic satisfaction, and GPA. Results replicated most of the 2 Ã? 2 model's hypotheses on ratings of GPA, thus supporting that nonperfectionism was associated with lower GPA than pure SOP (Hypothesis 1a) but with higher GPA than pure SPP (Hypothesis 2). Results also showed that mixed perfectionism was related to higher GPA than pure SPP (Hypothesis 3) but to similar levels as pure SOP, thus disproving Hypothesis 4. Furthermore, results provided evidence for cross-cultural differences in academic satisfaction. While all 4 hypotheses were supported among European Canadians, only Hypotheses 1a and 3 were supported among Asian Canadians. Future lines of research are discussed in light of the importance of acknowledging the role of culture when studying the influence of dispositional perfectionism on academic outcomes.
PubMed ID
22731112 View in PubMed
Less detail

5-alpha-reductase 2 polymorphisms as risk factors in prostate cancer.

https://arctichealth.org/en/permalink/ahliterature19112
Source
Pharmacogenetics. 2002 Jun;12(4):307-12
Publication Type
Article
Date
Jun-2002
Author
Söderström T
Wadelius M
Andersson S-O
Johansson J-E
Johansson S
Granath F
Rane A
Author Affiliation
Department of Medical Sciences, Clinical Pharmacology, University Hospital, S-751 85 Uppsala, Sweden. torbjorn.soderstrom@lmk.ck.lul.se
Source
Pharmacogenetics. 2002 Jun;12(4):307-12
Date
Jun-2002
Language
English
Publication Type
Article
Keywords
Age Factors
Aged
Alleles
Case-Control Studies
Cell Differentiation
DNA - blood - metabolism
DNA Primers - chemistry
European Continental Ancestry Group
Genotype
Heterozygote
Humans
Male
Middle Aged
Neoplasm Staging
Odds Ratio
Polymerase Chain Reaction
Polymorphism, Genetic
Prostate-Specific Antigen - metabolism
Prostatic Neoplasms - enzymology - etiology - genetics
Research Support, Non-U.S. Gov't
Risk factors
Sweden - epidemiology
Testosterone 5-alpha-Reductase - genetics
Abstract
Prostate cancer is a significant cause of death in Western countries and is under the strong influence of androgens. The steroid 5alpha-reductase 2 catalyzes the metabolism of testosterone into the more potent androgen dihydrotestosterone in the prostate gland. The enzyme is a target in pharmacological treatment of benign prostatic hyperplasia using specific inhibitors such as finasteride. Makridakis et al. have characterized the V89L and A49T polymorphisms in recombinant expression systems. The L allelic variant has a lower Vmax/Km ratio than the V variant. In the A49T polymorphism, the T variant has an increased Vmax/Km ratio. We performed a population-based case-control study of the impact of the SRD5A2 V89L and A49T polymorphisms on the risk of prostate cancer. We also studied the relation between the genotypes and age at diagnosis, tumor, node, metastasis stage, differentiation grade, prostate specific antigen and heredity. The study included 175 prostate cancer patients and 159 healthy controls that were matched for age. There was an association with SRD5A2 V89L LL genotype and metastases at the time of diagnosis, OR 5.67 (95% CI 1.44-22.30) when adjusted for age, differentiation grade, T-stage and prostate specific antigen. Heterozygous prostate cancer cases that carried the SRD5A2 A49T AT genotype were significantly younger than cases that carried the AA genotype, (mean age 66 years vs 71, P = 0.038). The SRD5A2 V89L and A49T polymorphisms were, however, not associated with altered prostate cancer risk. Further studies of the V89L polymorphism may lead to better understanding of the etiology of prostate cancer metastases.
PubMed ID
12042668 View in PubMed
Less detail

The 7-year cumulative incidence of cornea guttata and morphological changes in the corneal endothelium in the Reykjavik Eye Study.

https://arctichealth.org/en/permalink/ahliterature126926
Source
Acta Ophthalmol. 2013 May;91(3):212-8
Publication Type
Article
Date
May-2013
Author
Gunnar M Zoega
Arsaell Arnarsson
Hiroshi Sasaki
Per G Söderberg
Fridbert Jonasson
Author Affiliation
Gullstrand Lab, Ophthalmology, Department of Neuroscience, Uppsala University, Uppsala, Sweden.
Source
Acta Ophthalmol. 2013 May;91(3):212-8
Date
May-2013
Language
English
Publication Type
Article
Keywords
Age Distribution
Aged
Aged, 80 and over
Cell Count
Corneal Diseases - classification - diagnosis - epidemiology
Corneal Pachymetry
Descemet Membrane - pathology
Endothelium, Corneal - pathology
European Continental Ancestry Group
Female
Finland - epidemiology
Follow-Up Studies
Humans
Incidence
Male
Microscopy
Middle Aged
Prospective Studies
Sex Distribution
Time Factors
Abstract
To examine the corneal endothelium and establish the 7-year cumulative incidence of cornea guttata (CG).
Population-based prospective cohort study with 573 participants (third wave of the Reykjavik Eye Study (RES) in 2008). Four hundred and thirty-seven subjects had either right or left eyes available for analysis after excluding confounding eye conditions. The baseline for eyes at risk for developing CG is the second wave of the RES in 2001. Participants underwent specular microscopy and a standardized eye examination.
The cumulative 7-year incidence of CG in either eye was estimated as a 95% confidence interval for the expected value for both genders combined (15-23%), for males (8-18%) and for females (19-29%). In right eye only, the 7-year cumulative incidence for both genders combined was estimated to be 6-11%. For genders combined and for males only, the data indicated no correlation between 7-year cumulated incidence and age at baseline. In women, however, the change of 7-year incidence for CG in at least one eye appeared to be correlated to age at baseline. Reduction of endothelial cell density for corneas with CG at baseline was found [CI (0.95)-132 ± 94].
The cumulative 7-year incidence of primary central CG for a middle-aged and older Caucasian population without history of potentially confounding eye disease has been established. Women tend to have higher incidence if onset occurs at middle age. If CG is present, the cell density and the cell size variation decrease within a 7-year period.
PubMed ID
22339815 View in PubMed
Less detail

25-Hydroxyvitamin D and Peripheral Immune Mediators: Results from Two Nationwide Danish Pediatric Cohorts.

https://arctichealth.org/en/permalink/ahliterature285851
Source
Nutrients. 2017 Apr 06;9(4)
Publication Type
Article
Date
Apr-06-2017
Author
Steffen U Thorsen
Christian B Pipper
Kristin Skogstrand
Flemming Pociot
Jannet Svensson
Source
Nutrients. 2017 Apr 06;9(4)
Date
Apr-06-2017
Language
English
Publication Type
Article
Keywords
Case-Control Studies
Child
Child, Preschool
Cohort Studies
Denmark
Diabetes Mellitus, Type 1 - blood - diagnosis
European Continental Ancestry Group
Female
Humans
Immunologic Factors - blood
Infant, Newborn
Interleukin-8 - blood
Leptin - blood
Male
Vitamin D - analogs & derivatives - blood
Abstract
(1) Background: We aimed to examine if 25-hydroxyvitamin D (25(OH)D) was related to the peripheral immunological and inflammatory signature both at birth, and in newly diagnosed patients with childhood type 1 diabetes (T1D) and their healthy controls; (2) Methods: The birth cohort consisted of 470 patients and 500 healthy controls. Dried blood samples were collected from the neonates in the period 1981-1999. The newly diagnosed cohort consisted of 460 patients and 453 siblings. Serum samples were collected in the period 1997-2005. A variety of peripheral immune mediators were measured and compared to total 25(OH)D levels (25(OH)D2 + 25(OH)D3). For each immune mediator, the relative change (RC) in the mean level was modeled by robust log-normal regression and correction for multiple testing was performed; (3) Results: Two associations were identified; there was a negative association between 25(OH)D (10 nmol/L increase) and leptin (RC (95% confidence interval (CI)), 0.98 (0.96; 1.00)), and a positive association between 25(OH)D (10 nmol/L increase) and the chemokine, chemokine (c-x-c motif) ligand (CXCL) 8 (RC (95% CI), 1.07 (1.01; 1.13)); (4) Conclusion: CXCL8 and leptin have significant associations with levels of 25(OH)D in the newly diagnosed cohort. These results do not indicate a strong influence of 25(OH)D on the peripheral immunological or inflammatory signature.
Notes
Cites: Methods. 2012 Feb;56(2):204-1222001645
Cites: Acta Diabetol. 2015 Feb;52(1):167-7425059225
Cites: Nutrients. 2013 Sep 12;5(9):3551-6224036529
Cites: Clin Chim Acta. 2009 May;403(1-2):145-5119232332
Cites: Clin Immunol. 2017 Jan;174:18-2327871914
Cites: Lancet. 2016 Jun 4;387(10035):2340-827302273
Cites: Lancet. 2016 Jun 4;387(10035):2331-927302272
Cites: Diabetologia. 2014 Mar;57(3):512-2124310561
Cites: Biom J. 2008 Jun;50(3):346-6318481363
Cites: Eur J Clin Nutr. 2016 Dec 14;:null27966571
Cites: Diabetes Care. 2013 Sep;36(9):e157-823970730
Cites: Mediators Inflamm. 2010;2010:56834320368778
Cites: PLoS One. 2013 Oct 21;8(10):e7817024250750
Cites: Paediatr Perinat Epidemiol. 2010 May;24(3):303-820415760
Cites: Scand J Immunol. 2014 Dec;80(6):452-6125201044
Cites: Diabet Med. 2013 Feb;30(2):147-5423199020
Cites: Mol Genet Metab. 2013 Sep-Oct;110(1-2):65-7223830478
Cites: Br J Pharmacol. 2015 Oct;172(19):4757-7126178144
Cites: Clin Epidemiol. 2016 Oct 25;8:679-68327822115
Cites: Nutrients. 2015 May 29;7(6):4240-7026035247
Cites: Nat Rev Genet. 2010 Oct;11(10 ):733-920838408
Cites: Nat Commun. 2016 Nov 29;7:1355527898055
Cites: Diabetologia. 2016 Sep;59(9):1871-8127241183
Cites: Cancer Lett. 2008 Aug 28;267(2):226-4418579287
Cites: Mol Cell Endocrinol. 2011 Dec 5;347(1-2):106-2021889571
Cites: Bone. 2012 Mar;50(3):605-1022227435
Cites: Curr Diab Rep. 2012 Dec;12(6):635-4222976537
Cites: Pediatr Diabetes. 2016 Nov 10;:null27862781
Cites: Paediatr Perinat Epidemiol. 2007 Nov;21(6):507-1717937736
Cites: Clin Chem. 2005 Oct;51(10):1854-6616081507
PubMed ID
28383493 View in PubMed
Less detail

2009 Pandemic influenza A H1N1 in Alaska: temporal and geographic characteristics of spread and increased risk of hospitalization among Alaska Native and Asian/Pacific Islander people.

https://arctichealth.org/en/permalink/ahliterature136553
Source
Clin Infect Dis. 2011 Jan 1;52 Suppl 1:S189-97
Publication Type
Article
Date
Jan-1-2011
Author
Jay D Wenger
Louisa J Castrodale
Dana L Bruden
James W Keck
Tammy Zulz
Michael G Bruce
Donna A Fearey
Joe McLaughlin
Debby Hurlburt
Kim Boyd Hummel
Sassa Kitka
Steve Bentley
Timothy K Thomas
Rosalyn Singleton
John T Redd
Larry Layne
James E Cheek
Thomas W Hennessy
Author Affiliation
Arctic Investigations Program, Centers for Disease Control and Prevention, Anchorage, Alaska 99508, USA. jdw2@cdc.gov
Source
Clin Infect Dis. 2011 Jan 1;52 Suppl 1:S189-97
Date
Jan-1-2011
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Aged, 80 and over
Alaska - epidemiology
Asian Continental Ancestry Group
Child
Child, Preschool
European Continental Ancestry Group
Female
Geography
Hospitalization - statistics & numerical data
Humans
Infant
Infant, Newborn
Influenza A Virus, H1N1 Subtype - isolation & purification
Influenza, Human - epidemiology - virology
Male
Middle Aged
Pandemics
Population Groups
Time Factors
Young Adult
Abstract
Alaska Native people have suffered disproportionately from previous influenza pandemics. We evaluated 3 separate syndromic data sources to determine temporal and geographic patterns of spread of 2009 pandemic influenza A H1N1 (pH1N1) in Alaska, and reviewed records from persons hospitalized with pH1N1 disease in 3 areas in Alaska to characterize clinical and epidemiologic features of disease in Alaskans. A wave of pH1N1 disease swept through Alaska beginning in most areas in August or early September. In rural regions, where Alaska Native people comprise a substantial proportion of the population, disease occurred earlier than in other regions. Alaska Native people and Asian/Pacific Islanders (A/PI) were 2-4 times more likely to be hospitalized than whites. Alaska Native people and other minorities remain at high risk for early and substantial morbidity from pandemic influenza episodes. These findings should be integrated into plans for distribution and use of vaccine and antiviral agents.
PubMed ID
21342894 View in PubMed
Less detail

ABCG2 polymorphism markedly affects the pharmacokinetics of atorvastatin and rosuvastatin.

https://arctichealth.org/en/permalink/ahliterature150732
Source
Clin Pharmacol Ther. 2009 Aug;86(2):197-203
Publication Type
Article
Date
Aug-2009
Author
J E Keskitalo
O. Zolk
M F Fromm
K J Kurkinen
P J Neuvonen
M. Niemi
Author Affiliation
Department of Clinical Pharmacology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
Source
Clin Pharmacol Ther. 2009 Aug;86(2):197-203
Date
Aug-2009
Language
English
Publication Type
Article
Keywords
ATP-Binding Cassette Transporters - genetics
Adult
Anticholesteremic Agents - pharmacokinetics
Area Under Curve
Cross-Over Studies
Drug Resistance, Multiple
European Continental Ancestry Group - genetics
Female
Finland
Fluorobenzenes - administration & dosage - blood - pharmacokinetics - urine
Genotype
Heptanoic Acids - administration & dosage - blood - pharmacokinetics - urine
Humans
Hydroxymethylglutaryl-CoA Reductase Inhibitors - pharmacokinetics
Linear Models
Male
Neoplasm Proteins - genetics
Polymorphism, Single Nucleotide
Pyrimidines - administration & dosage - blood - pharmacokinetics - urine
Pyrroles - administration & dosage - blood - pharmacokinetics - urine
Reference Values
Sulfonamides - administration & dosage - blood - pharmacokinetics - urine
Abstract
The ABCG2 c.421C>A single-nucleotide polymorphism (SNP) was determined in 660 healthy Finnish volunteers, of whom 32 participated in a pharmacokinetic crossover study involving the administration of 20 mg atorvastatin and rosuvastatin. The frequency of the c.421A variant allele was 9.5% (95% confidence interval 8.1-11.3%). Subjects with the c.421AA genotype (n = 4) had a 72% larger mean area under the plasma atorvastatin concentration-time curve from time 0 to infinity (AUC(0-infinity)) than individuals with the c.421CC genotype had (n = 16; P = 0.049). In participants with the c.421AA genotype, the rosuvastatin AUC(0-infinity) was 100% greater than in those with c.421CA (n = 12) and 144% greater than in those with the c.421CC genotype. Also, those with the c.421AA genotype showed peak plasma rosuvastatin concentrations 108% higher than those in the c.421CA genotype group and 131% higher than those in the c.421CC genotype group (P
PubMed ID
19474787 View in PubMed
Less detail

ABH secretion polymorphism in Icelanders, Aland Islanders, Finns, Finnish Lapps, Komi and Greenland Eskimos: a review and new data.

https://arctichealth.org/en/permalink/ahliterature237022
Source
Ann Hum Biol. 1986 May-Jun;13(3):273-85
Publication Type
Article
Author
A W Eriksson
K. Partanen
R R Frants
J C Pronk
P J Kostense
Source
Ann Hum Biol. 1986 May-Jun;13(3):273-85
Language
English
Publication Type
Article
Keywords
ABO Blood-Group System - genetics
Adult
Aged
Alleles
Asian Continental Ancestry Group
European Continental Ancestry Group
Finland
Greenland
Humans
Iceland
Inuits
Male
Polymorphism, Genetic
Saliva - immunology
Sweden - ethnology
Abstract
The secretion of the ABH antigens in saliva was tested in indigenous individuals of several populations: Icelanders in Reykjavik and Husavik (northeastern Iceland), Aland Islanders, Finno-Ugrians (Finns, Finnish Lapps, Komi) and Eskimos (Augpilagtok, northwestern Greenland). The frequencies of ABH non-secretors among the Icelanders (28-36%) were among the highest ever noted in Europeans. Among Alanders and Swedes on the Finnish mainland the frequency (around 20%) was comparable to Swedish values but considerably higher than among Finns (13-14%). The values among northeastern Finns and Komi (about 9%) were intermediate between values among Lapps (below 5%) and Scandinavians (15-26%), excluding Icelanders (28-41%). The average frequency of non-secretors among Lapps in Finland (2.2 +/- 0.5%) was the lowest observed among white populations. Like many other arctic populations of the Mongolian race, the Greenland Eskimos had a very low frequency of non-secretors. It is probable that the non-secretor allele ABH*se was absent from the ancient Lapps and Greenland Eskimos but introduced by invading populations. It is concluded that the ABH*se allele frequencies vary much more among northern European populations than hitherto appreciated. Recent studies indicate that the non-secretor status of the ABH blood group substances in mucous body fluids is associated with pathological conditions of the mucous membranes of the embryologically related digestive and respiratory systems, particularly with duodenal ulcer and gastric (pre)malignancies but probably also with pulmonary dysfunction. In view of these disadvantages of the ABH non-secretor status the high frequency of ABH*se in Icelanders is a paradoxical phenomenon. The frequency of ABH non-secretors among the founders (Vikings) of Iceland may have been considerably higher than among the present populations in northwestern Europe. The increase in northwestern direction of the ABH*se allele frequencies supports this hypothesis; the dilution effect has not been as strong in Iceland as on the European continent.
PubMed ID
3752918 View in PubMed
Less detail

Abnormalities of cornea, lens and retina. Survey findings.

https://arctichealth.org/en/permalink/ahliterature2704
Source
Canadian Journal of Opthalmology. 1973 Apr;8(2):291-297.
Publication Type
Article
Date
1973
Author
Wyatt, H.T.
Author Affiliation
University of Alberta
Source
Canadian Journal of Opthalmology. 1973 Apr;8(2):291-297.
Date
1973
Language
English
Geographic Location
Canada
Publication Type
Article
Physical Holding
Alaska Medical Library
Keywords
Corneal scarring
Labrador keratopathy
Pterygium
Degenerative retinal disease
Adolescent
Adult
Age Factors
Aged
Arctic Regions
Canada
Cataract - epidemiology
Child
Child, Preschool
Cornea
European Continental Ancestry Group
Eye Diseases - epidemiology - pathology
Humans
Indians, North American
Infant
Infant, Newborn
Inuits
Lens, Crystalline
Middle Aged
Retinal Diseases - epidemiology
Vision
Visual acuity
Notes
From: Fortuine, Robert et al. 1993. The Health of the Inuit of North America: A Bibliography from the Earliest Times through 1990. University of Alaska Anchorage. Citation 2521.
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
Cites: Am J Hum Genet. 1997 Jan;60(1):27-398981944
Cites: Am J Hum Genet. 1996 Apr;58(4):892-58644756
Cites: Acta Psychiatr Neurol Suppl. 1950;65:1-28714846691
Cites: Dev Med Child Neurol. 1973 Apr;15(2):184-74697752
Cites: Ann Hum Genet. 1976 Jul;40(1):1-23962317
Cites: Behav Genet. 1980 Jan;10(1):9-307425998
Cites: Science. 1983 Mar 18;219(4590):1345-76828864
Cites: Am J Hum Genet. 1985 May;37(3):482-983859205
Cites: Clin Genet. 1987 Aug;32(2):118-93652490
Cites: Nature. 1987 Oct 8-14;329(6139):537-93657975
Cites: Am J Hum Genet. 1988 Feb;42(2):315-263422543
Cites: Nucleic Acids Res. 1988 Feb 11;16(3):12153344216
Cites: Am J Hum Genet. 1989 Mar;44(3):388-962916582
Cites: Am J Hum Genet. 1989 Apr;44(4):543-512929597
Cites: J Am Acad Child Adolesc Psychiatry. 1989 May;28(3):326-312661524
Cites: J Learn Disabil. 1989 Jun-Jul;22(6):339-482738467
Cites: J Am Acad Child Adolesc Psychiatry. 1990 Mar;29(2):204-131969860
Cites: Arch Neurol. 1990 Aug;47(8):919-262375699
Cites: Nucleic Acids Res. 1990 Jul 25;18(14):43012377495
Cites: Arch Neurol. 1991 Apr;48(4):410-62012516
Cites: Nucleic Acids Res. 1991 Feb 25;19(4):9682017389
Cites: J Immunol. 1991 Aug 1;147(3):1053-91861069
Cites: Nucleic Acids Res. 1991 Aug 11;19(15):43061870992
Cites: Neuropsychologia. 1992 Mar;30(3):209-271574158
Cites: Cortex. 1992 Sep;28(3):483-911395648
Cites: Arch Neurol. 1993 May;50(5):461-98489401
Cites: Am J Hum Genet. 1993 Jul;53(1):252-638317490
Cites: Diabetes. 1993 Aug;42(8):1215-88392011
Cites: Am J Hum Genet. 1993 Oct;53(4):908-158213819
Cites: Hum Hered. 1993 Nov-Dec;43(6):329-368288263
Cites: Genet Epidemiol. 1993;10(6):389-948314032
Cites: Genet Epidemiol. 1993;10(6):395-4008314033
Cites: Science. 1994 Oct 14;266(5183):276-97939663
Cites: Am J Hum Genet. 1995 Aug;57(2):487-987668275
Cites: Nature. 1996 Mar 14;380(6570):152-48600387
Cites: Genomics. 1996 Apr 1;33(1):1-88617492
Cites: Am J Hum Genet. 1996 Apr;58(4):867-808644751
Erratum In: Am J Hum Genet 1999 Jan;64(1):334
PubMed ID
9792873 View in PubMed
Less detail

1868 records – page 1 of 187.