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[Allele polymorphism of the serotonin transporter gene and clinical heterogeneity of depressive disorders].

https://arctichealth.org/en/permalink/ahliterature189748
Source
Genetika. 2002 May;38(5):671-7
Publication Type
Article
Date
May-2002
Author
V E Golimbet
M V Alfimova
T V Shcherbatykh
E I Rogaev
Author Affiliation
Mental Health Research Center, Russian Academy of Medical Sciences, Moscow, 113152, Russia. golimbet@mail.ru
Source
Genetika. 2002 May;38(5):671-7
Date
May-2002
Language
Russian
Publication Type
Article
Keywords
Age of Onset
Aged
Carrier Proteins - genetics
Depression - genetics
Genetic Heterogeneity
Humans
Membrane Glycoproteins - genetics
Membrane Transport Proteins
Middle Aged
Moscow
Nerve Tissue Proteins
Polymorphism, Genetic
Serotonin Plasma Membrane Transport Proteins
Abstract
Depression disorders are a clinically heterogeneous disease group. Their development is to a substantial extent underlain by dysfunction of the serotonin system, in particular, disturbed serotonin transport. The heterogeneity of depressions is associated, among other factors, with the age at disease onset. Allele polymorphism of the serotonin transporter (5-HTT) gene was tested for association with age at disease onset, clinical signs, and anxiety-related traits of depression patients. A sample included 77 patients (mean age 61.2 +/- 8.8 years) with late-onset depression (LOD, mean age at onset 56.58 +/- 9.7 years) and 74 patients (mean age 31.0 +/- 11.8 years) with early-onset depression (EOD, mean age at onset 23.9 +/- 7.4 years). In genotype frequency distribution of two 5-HTT gene polymorphism, the LOD and EOD groups did not differ from each other (chi 2 = 0.33, P = 0.85 for VNTR-17; chi 2 = 3.33, P = 0.19 for HTTLPR) and from a control group (chi 2 = 0.34, P = 0.84 for VNTR-17; chi 2 = 2.1, P = 0.35 for HTTLPR). In either group, patients differing in VNTR-17 and HTTLPR genotypes did not differ in psychological traits and, in particular, in anxiety-related traits. In the case of the HTTLPR polymorphism, LOD patients with genotype ss tended to display less severe neuroticism (t = 2.03, P = 0.0507) and scored significantly less on the Hamilton depression scale (t = 2.19, P = 0.039). Thus, the 5-HTT gene polymorphisms do not affect the risk of depression but is possibly associated with specific clinical signs of the disease, at least in elderly patients.
PubMed ID
12068552 View in PubMed
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Analyzing the etiology of benign rolandic epilepsy: a multicenter twin collaboration.

https://arctichealth.org/en/permalink/ahliterature76297
Source
Epilepsia. 2006 Mar;47(3):550-5
Publication Type
Article
Date
Mar-2006
Author
Lata Vadlamudi
Marianne J Kjeldsen
Linda A Corey
Marit H Solaas
Mogen L Friis
John M Pellock
Karl O Nakken
Roger L Milne
Ingrid E Scheffer
A Simon Harvey
John L Hopper
Samuel F Berkovic
Author Affiliation
Epilepsy Research Centre, Department of Medicine (Neurology), University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Source
Epilepsia. 2006 Mar;47(3):550-5
Date
Mar-2006
Language
English
Publication Type
Article
Keywords
Adult
Age of Onset
Australia - epidemiology
Comparative Study
Denmark - epidemiology
Diseases in Twins - diagnosis - epidemiology - genetics
Electroencephalography - statistics & numerical data
Epilepsy, Rolandic - diagnosis - epidemiology - genetics
Family
Female
Genetic Heterogeneity
Genotype
Humans
Male
Models, Genetic
Norway - epidemiology
Pedigree
Prevalence
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Twins, Dizygotic - genetics
Twins, Monozygotic - genetics
United States - epidemiology
Variation (Genetics)
Abstract
PURPOSE: Benign rolandic epilepsy (BRE) is considered a genetically determined idiopathic partial epilepsy. We analyzed a large sample of twins from four international twin registers to probe the genetics of BRE. We also aim to synthesize the apparently conflicting family and twin data into a model of BRE etiology. METHODS: Large population-based twin registries of epilepsies from Odense (Denmark), Richmond, Virginia (United States), and Oslo (Norway) were reviewed for BRE cases and added to our Australian twin data. Diagnosis of classic BRE was based on electroclinical criteria with normal neurologic development. Cases with a compatible electroclinical picture but abnormal neurologic development were termed non-classic BRE. RESULTS: Eighteen twin pairs were identified (10 monozygous; eight dizygous) of whom at least one twin was diagnosed with classic BRE among a total sample of 1,952 twin pairs validated for seizures, and all were discordant for BRE. The estimated monozygous pairwise concordance for BRE in this sample was 0.0 [95% confidence interval (CI), 0.0-0.3). Four twin pairs (one monozygous, three dizygous) had non-classic BRE, and all co-twins had seizures. CONCLUSIONS: The twin data showing an absence of any concordant twin pairs with classic BRE suggest that noninherited factors are of major importance in BRE. Modelling the data shows that the familial occurrence of centrotemporal spikes makes only a minor contribution to the familial aggregation of BRE. Genetic factors are probably more important in non-classic BRE. The etiology and mode(s) of inheritance of BRE are much more complicated than initially conceptualized.
PubMed ID
16529620 View in PubMed
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An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Breast Cancer Linkage Consortium.

https://arctichealth.org/en/permalink/ahliterature23409
Source
Am J Hum Genet. 1995 Jan;56(1):254-64
Publication Type
Article
Date
Jan-1995
Author
S A Narod
D. Ford
P. Devilee
R B Barkardottir
H T Lynch
S A Smith
B A Ponder
B L Weber
J E Garber
J M Birch
Author Affiliation
Department of Medicine, McGill University, Montreal, Quebec, Canada.
Source
Am J Hum Genet. 1995 Jan;56(1):254-64
Date
Jan-1995
Language
English
Publication Type
Article
Keywords
Adult
Age of Onset
BRCA1 Protein
Breast Neoplasms - epidemiology - genetics
Breast Neoplasms, Male - epidemiology - genetics
Chromosomes, Human, Pair 17
Female
Genetic Heterogeneity
Genetic Predisposition to Disease
Humans
Iceland - epidemiology
Lod Score
Male
Middle Aged
Neoplasm Proteins - genetics
Neoplasms, Multiple Primary - epidemiology - genetics
Neoplastic Syndromes, Hereditary - epidemiology - genetics
Netherlands - epidemiology
Ovarian Neoplasms - epidemiology - genetics
Pedigree
Transcription Factors - genetics
Abstract
The breast-ovary cancer-family syndrome is a dominant predisposition to cancer of the breast and ovaries which has been mapped to chromosome region 17q12-q21. The majority, but not all, of breast-ovary cancer families show linkage to this susceptibility locus, designated BRCA1. We report here the results of a linkage analysis of 145 families with both breast and ovarian cancer. These families contain either a total of three or more cases of early-onset (before age 60 years) breast cancer or ovarian cancer. All families contained at least one case of ovarian cancer. Overall, an estimated 76% of the 145 families are linked to the BRCA1 locus. None of the 13 families with cases of male breast cancer appear to be linked, but it is estimated that 92% (95% confidence interval 76%-100%) of families with no male breast cancer and with two or more ovarian cancers are linked to BRCA1. These data suggest that the breast-ovarian cancer-family syndrome is genetically heterogeneous. However, the large majority of families with early-onset breast cancer and with two or more cases of ovarian cancer are likely to be due to BRCA1 mutations.
PubMed ID
7825586 View in PubMed
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Application and interpretation of transmission/disequilibrium tests: transmission of HLA-DQ haplotypes to unaffected siblings in 526 families with type 1 diabetes.

https://arctichealth.org/en/permalink/ahliterature32894
Source
Am J Hum Genet. 2000 Feb;66(2):740-3
Publication Type
Article
Date
Feb-2000
Author
B A Lie
K S Ronningen
H E Akselsen
E. Thorsby
D E Undlien
Author Affiliation
Institute of Immunology, The National Hospital, N-0027 Oslo, Norway. b.a.lie@labmed.uio.no
Source
Am J Hum Genet. 2000 Feb;66(2):740-3
Date
Feb-2000
Language
English
Publication Type
Article
Keywords
Alleles
Diabetes Mellitus, Type 1 - genetics
Female
Genes, Dominant - genetics
Genetic Heterogeneity
Genetic Predisposition to Disease - genetics
HLA-DQ Antigens - genetics
Haplotypes - genetics
Humans
Linkage Disequilibrium - genetics
Male
Models, Genetic
Norway
Nuclear Family
Penetrance
Research Support, Non-U.S. Gov't
Abstract
It is widely believed that, if a genetic marker shows a transmission distortion in patients by the transmission/disequilibrium test (TDT), then a transmission distortion in healthy siblings would be seen in the opposite direction. This is also the case in a complex disease. Furthermore, it has been suggested that replacing the McNemar statistics of the TDT with a test of heterogeneity between transmissions to affected and unaffected children could increase the power to detect disease association. To test these two hypotheses empirically, we analyzed the transmission of HLA-DQA1-DQB1 haplotypes in 526 Norwegian families with type 1 diabetic children and healthy siblings, since some DQA1-DQB1 haplotypes represent major genetic risk factors for type 1 diabetes. Despite the strong positive and negative disease associations with particular DQ haplotypes, we observed no significant deviation from 50% for transmission to healthy siblings. This could be explained by the low penetrance of susceptibility alleles, together with the fact that IDDM loci also harbor strongly protective alleles that can override the risk contributed by other loci. Our results suggest that, in genetically complex diseases, detectable distortion in transmission to healthy siblings should not be expected. Furthermore, the original TDT seems more powerful than a heterogeneity test.
PubMed ID
10677335 View in PubMed
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Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2.

https://arctichealth.org/en/permalink/ahliterature199221
Source
Am J Hum Genet. 2000 Mar;66(3):1132-7
Publication Type
Article
Date
Mar-2000
Author
E. Virolainen
M. Wessman
I. Hovatta
K M Niemi
J. Ignatius
J. Kere
L. Peltonen
A. Palotie
Author Affiliation
Department of Clinical Chemistry, Laboratory Department of Helsinki University Central Hospital, Helsinki, Finland.
Source
Am J Hum Genet. 2000 Mar;66(3):1132-7
Date
Mar-2000
Language
English
Publication Type
Article
Keywords
Child
Chromosome Mapping
Chromosomes, Human, Pair 19 - genetics
Female
Finland
Genes, Recessive - genetics
Genetic Heterogeneity
Haplotypes - genetics
Heterozygote
Humans
Ichthyosis - genetics - pathology
Infant, Newborn
Likelihood Functions
Lod Score
Male
Microsatellite Repeats - genetics
Microscopy, Electron
Pedigree
Software
Abstract
Autosomal recessive congenital ichthyosis (ARCI) is a rare, clinically and genetically heterogeneous genodermatosis. One gene (transglutaminase 1, on 14q11) and one additional locus (on 2q33-35, with an unidentified gene) have been shown to be associated with a lamellar, nonerythrodermic type of ARCI. We performed a genomewide scan, with 370 highly polymorphic microsatellite markers, on five affected individuals from one large Finnish family with nonerythrodermic, nonlamellar ARCI. The only evidence for linkage emerged from markers in a 6.0-cM region on chromosome 19p13.1-2. The maximum two-point LOD score of 7.33 was obtained with the locus D19S252, and multipoint likelihood calculations gave a maximum location score of 5.2. The affected individuals share two common core haplotypes, which makes compound heterozygosity possible. The novel disease locus is the third locus linked to ARCI, supporting previous evidence for genetic heterogeneity of ARCI. This is also the first locus for a nonlamellar, nonerythrodermic phenotype of ARCI.
Notes
Cites: Arch Dermatol. 1985 Apr;121(4):477-883977371
Cites: Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443-66587361
Cites: Proc Natl Acad Sci U S A. 1989 Jun;86(11):4175-82726769
Cites: EMBO J. 1991 Jan;10(1):51-81703489
Cites: Nucleic Acids Res. 1991 Jul 25;19(14):40081861999
Cites: Nat Genet. 1995 Mar;9(3):279-837773290
Cites: Hum Mol Genet. 1995 Mar;4(3):449-527795601
Cites: Hum Mol Genet. 1995 Aug;4(8):1391-57581379
Cites: Nature. 1996 Mar 14;380(6570):152-48600387
Cites: Am J Hum Genet. 1996 Jun;58(6):1323-378651310
Cites: Hum Mol Genet. 1996 Apr;5(4):555-98845852
Cites: Nat Genet. 1996 Nov;14(3):316-98896562
Cites: J Biol Chem. 1997 Aug 22;272(34):21018-269261103
Cites: Am J Hum Genet. 1997 Sep;61(3):529-389326318
Cites: Am J Hum Genet. 1998 Mar;62(3):620-69497249
Cites: Am J Hum Genet. 1998 May;62(5):1052-619545389
Cites: Eur J Hum Genet. 1998 Nov-Dec;6(6):589-969887377
Cites: Hum Mol Genet. 1999;8(10):1913-2310469845
Cites: Muscle Nerve. 1991 Nov;14(11):1050-81745277
Cites: Am J Hum Genet. 1993 Jul;53(1):252-638317490
Cites: Am J Hum Genet. 1994 Dec;55(6):1146-527977373
Cites: Science. 1995 Jan 27;267(5197):525-87824952
Cites: Ann Clin Res. 1973 Jun;5(3):109-414584134
Cites: Proc Natl Acad Sci U S A. 1989 Apr;86(8):2766-702565038
PubMed ID
10712223 View in PubMed
Less detail

Association of autoimmune Addison's disease with alleles of STAT4 and GATA3 in European cohorts.

https://arctichealth.org/en/permalink/ahliterature271397
Source
PLoS One. 2014;9(3):e88991
Publication Type
Article
Date
2014
Author
Anna L Mitchell
Katie D R Macarthur
Earn H Gan
Lucy E Baggott
Anette S B Wolff
Beate Skinningsrud
Hazel Platt
Andrea Short
Anna Lobell
Olle Kämpe
Sophie Bensing
Corrado Betterle
Anna Kasperlik-Zaluska
Magdalena Zurawek
Marta Fichna
Ingrid Kockum
Gabriel Nordling Eriksson
Olov Ekwall
Jeanette Wahlberg
Per Dahlqvist
Anna-Lena Hulting
Marissa Penna-Martinez
Gesine Meyer
Heinrich Kahles
Klaus Badenhoop
Stephanie Hahner
Marcus Quinkler
Alberto Falorni
Amanda Phipps-Green
Tony R Merriman
William Ollier
Heather J Cordell
Dag Undlien
Barbara Czarnocka
Eystein Husebye
Simon H S Pearce
Source
PLoS One. 2014;9(3):e88991
Date
2014
Language
English
Publication Type
Article
Keywords
Addison Disease - genetics
Adolescent
Adult
Aged
Aged, 80 and over
Alleles
Autoimmune Diseases - genetics
Case-Control Studies
Child
Child, Preschool
Cohort Studies
European Continental Ancestry Group
Female
GATA3 Transcription Factor - genetics
Genetic Association Studies
Genetic Heterogeneity
Genetic Predisposition to Disease
Genotyping Techniques
Great Britain
Humans
Infant
Infant, Newborn
Male
Middle Aged
Norway
STAT4 Transcription Factor - genetics
Young Adult
Abstract
Gene variants known to contribute to Autoimmune Addison's disease (AAD) susceptibility include those at the MHC, MICA, CIITA, CTLA4, PTPN22, CYP27B1, NLRP-1 and CD274 loci. The majority of the genetic component to disease susceptibility has yet to be accounted for.
To investigate the role of 19 candidate genes in AAD susceptibility in six European case-control cohorts.
A sequential association study design was employed with genotyping using Sequenom iPlex technology. In phase one, 85 SNPs in 19 genes were genotyped in UK and Norwegian AAD cohorts (691 AAD, 715 controls). In phase two, 21 SNPs in 11 genes were genotyped in German, Swedish, Italian and Polish cohorts (1264 AAD, 1221 controls). In phase three, to explore association of GATA3 polymorphisms with AAD and to determine if this association extended to other autoimmune conditions, 15 SNPs in GATA3 were studied in UK and Norwegian AAD cohorts, 1195 type 1 diabetes patients from Norway, 650 rheumatoid arthritis patients from New Zealand and in 283 UK Graves' disease patients. Meta-analysis was used to compare genotype frequencies between the participating centres, allowing for heterogeneity.
We report significant association with alleles of two STAT4 markers in AAD cohorts (rs4274624: P?=?0.00016; rs10931481: P?=?0.0007). In addition, nominal association of AAD with alleles at GATA3 was found in 3 patient cohorts and supported by meta-analysis. Association of AAD with CYP27B1 alleles was also confirmed, which replicates previous published data. Finally, nominal association was found at SNPs in both the NF-?B1 and IL23A genes in the UK and Italian cohorts respectively.
Variants in the STAT4 gene, previously associated with other autoimmune conditions, confer susceptibility to AAD. Additionally, we report association of GATA3 variants with AAD: this adds to the recent report of association of GATA3 variants with rheumatoid arthritis.
Notes
Cites: Bioinformatics. 2005 Jan 15;21(2):263-515297300
Cites: Br Med J. 1963 Nov 23;2(5368):131614058210
Cites: Eur J Endocrinol. 2005 Dec;153(6):895-916322396
Cites: N Engl J Med. 2007 Sep 6;357(10):977-8617804842
Cites: Mol Med. 2007 Sep-Oct;13(9-10):455-6017932559
Cites: Eur J Endocrinol. 2007 Dec;157(6):757-6118057383
Cites: Hum Hered. 2008;66(2):87-9818382088
Cites: Genes Immun. 2008 Apr;9(3):267-7018273036
Cites: Ann Rheum Dis. 2010 Aug;69(8):1471-419734133
Cites: BMC Genet. 2010;11:5120565774
Cites: Exp Clin Endocrinol Diabetes. 2010 Aug;118(8):544-919998245
Cites: Diabetes. 2011 May;60(5):1624-3121441443
Cites: J Clin Endocrinol Metab. 2011 Oct;96(10):E1703-821816777
Cites: Curr Diab Rep. 2012 Dec;12(6):635-4222976537
Cites: Nat Genet. 2012 Dec;44(12):1336-4023143596
Cites: J Immunol. 2013 Jan 1;190(1):428-3723225883
Cites: J Clin Endocrinol Metab. 2000 Feb;85(2):688-9110690877
Cites: J Clin Endocrinol Metab. 2002 Feb;87(2):618-2311836294
Cites: J Clin Endocrinol Metab. 2004 Nov;89(11):5862-515531553
Cites: J Mol Endocrinol. 2005 Jun;34(3):859-6315956353
Cites: J Clin Endocrinol Metab. 2002 Jun;87(6):2564-712050214
Cites: Clin Endocrinol (Oxf). 2002 Jun;56(6):787-9112072049
Cites: Nature. 2003 Dec 18;426(6968):789-9614685227
Cites: J Clin Endocrinol Metab. 2004 Jul;89(7):3474-615240634
Cites: Eur J Endocrinol. 2004 Aug;151(2):193-715296474
Cites: Br Med J. 1968 Mar 2;1(5591):5595644163
Cites: Postgrad Med J. 1978 Aug;54(634):552-4569846
Cites: J Clin Endocrinol Metab. 1980 Nov;51(5):1074-76448266
Cites: J Clin Endocrinol Metab. 1986 Mar;62(3):455-93484749
Cites: Arch Dis Child. 1991 Mar;66(3):350-22025018
Cites: Science. 1994 Sep 30;265(5181):2037-488091226
Cites: J Clin Endocrinol Metab. 1999 May;84(5):176210323417
Cites: Br Med J. 1957 Dec 28;2(5060):1530-113489279
Erratum In: PLoS One. 2014;9(7):e102428
PubMed ID
24614117 View in PubMed
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Association of psoriasis to PGLYRP and SPRR genes at PSORS4 locus on 1q shows heterogeneity between Finnish, Swedish and Irish families.

https://arctichealth.org/en/permalink/ahliterature92745
Source
Exp Dermatol. 2009 Feb;18(2):109-15
Publication Type
Article
Date
Feb-2009
Author
Kainu Kati
Kivinen Katja
Zucchelli Marco
Suomela Sari
Kere Juha
Inerot Annica
Baker Barbara S
Powles Anne V
Fry Lionel
Samuelsson Lena
Saarialho-Kere Ulpu
Author Affiliation
Department of Medical Genetics, University of Helsinki, Helsinki, Finland.
Source
Exp Dermatol. 2009 Feb;18(2):109-15
Date
Feb-2009
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Carrier Proteins - genetics
Child
Child, Preschool
Chromosomes, Human, Pair 1 - genetics
Cornified Envelope Proline-Rich Proteins - genetics
Female
Finland
Genetic Heterogeneity
Genetic Predisposition to Disease - genetics
Genotype
Haplotypes - genetics
Humans
Infant
Ireland
Male
Middle Aged
Polymorphism, Single Nucleotide - genetics
Psoriasis - ethnology - genetics
Sweden
Young Adult
Abstract
A susceptibility locus for psoriasis, PSORS4, has been mapped to chromosome 1q21 in the region of the epidermal differentiation complex. The region has been refined to a 115 kb interval around the loricrin (LOR) gene. However, no evidence of association between polymorphisms in the LOR gene and psoriasis has been found. Therefore, we have analysed association to three candidate gene clusters of the region, the S100, small proline-rich protein (SPRR) and PGLYRP (peptidoglycan recognition protein) genes, which all contain functionally interesting psoriasis candidate genes. In previous studies, the SPRR and S100 genes have shown altered expression in psoriasis. Also polymorphisms in the PGLYRP genes have shown to be associated with psoriasis. We genotyped altogether 29 single nucleotide polymorphisms (SNPs) in 255 Finnish psoriasis families and analysed association with psoriasis using transmission disequilibrium test. A five-SNP haplotype of PGLYRP SNPs associated significantly with psoriasis. There was also suggestive evidence of association to SPRR gene locus in Finnish families. To confirm the putative associations, selected SNPs were genotyped also in a family collection of Swedish and Irish patients. The families supported association to the two gene regions, but there was also evidence of allelic heterogeneity.
PubMed ID
18643845 View in PubMed
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Autosomal-dominant locus for Restless Legs Syndrome in French-Canadians on chromosome 16p12.1.

https://arctichealth.org/en/permalink/ahliterature154583
Source
Mov Disord. 2009 Jan 15;24(1):40-50
Publication Type
Article
Date
Jan-15-2009
Author
Anastasia Levchenko
Jacques-Yves Montplaisir
Géraldine Asselin
Sylvie Provost
Simon L Girard
Lan Xiong
Emmanuelle Lemyre
Judith St-Onge
Pascale Thibodeau
Alex Desautels
Gustavo Turecki
Claudia Gaspar
Marie-Pierre Dubé
Guy A Rouleau
Author Affiliation
Center of Excellence in Neuromics, CHUM Research Center-Notre Dame Hospital, Quebec, Canada.
Source
Mov Disord. 2009 Jan 15;24(1):40-50
Date
Jan-15-2009
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Aged, 80 and over
Chromosomes, Human, Pair 16 - genetics
Female
France - ethnology
Genes, Dominant
Genetic Heterogeneity
Genotype
Haplotypes
Humans
Lod Score
Male
Microsatellite Repeats
Middle Aged
Paresthesia - genetics
Pedigree
Pregnancy
Pregnancy Complications - genetics
Quebec - epidemiology
Restless Legs Syndrome - ethnology - genetics
Young Adult
Abstract
We describe an autosomal-dominant locus for Restless Legs Syndrome (RLS) in a French-Canadian (FC) pedigree. Genome-wide microsatellite scan and linkage analysis were used in this study. The locus maps to chromosome 16p12.1 and spans 1.18 Mega bases. The maximum multipoint LOD scores are of 3.5 over the total of 10 markers. Evidence for the same locus was also found in a smaller FC pedigree sime095. The analysis of the sequence of 8 annotated genes within the region did not reveal any pathogenic mutations. Copy number variation and karyotype analyses did not reveal any chromosomal abnormality in the region. Further analyses of the region are necessary to find the genetic cause of RLS in this family.
PubMed ID
18946881 View in PubMed
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A Bivariate Genetic Analysis of Drug Abuse Ascertained Through Medical and Criminal Registries in Swedish Twins, Siblings and Half-Siblings.

https://arctichealth.org/en/permalink/ahliterature282467
Source
Behav Genet. 2016 Nov;46(6):735-741
Publication Type
Article
Date
Nov-2016
Author
Hermine H Maes
Michael C Neale
Henrik Ohlsson
Mahsa Zahery
Paul Lichtenstein
Kristina Sundquist
Jan Sundquist
Kenneth S Kendler
Source
Behav Genet. 2016 Nov;46(6):735-741
Date
Nov-2016
Language
English
Publication Type
Article
Keywords
Criminals
Female
Genetic Heterogeneity
Humans
Male
Registries
Siblings
Substance-Related Disorders - epidemiology - genetics
Sweden - epidemiology
Twins - genetics
Abstract
Using Swedish nationwide registry data, the authors investigated the correlation of genetic and environmental risk factors in the etiology of drug abuse as ascertained from medical and criminal registries by modeling twin and sibling data. Medical drug abuse was defined using public inpatient and outpatient records, while criminal drug abuse was ascertained through legal records. Twin, full and half sibling pairs were obtained from the national twin and genealogical registers. Information about sibling pair residence within the same household was obtained from Statistics Sweden. Standard bivariate genetic structural equation modeling was applied to the population-based data on drug abuse ascertained through medical and crime registries, using OpenMx. Analyses of all possible pairs of twins (MZ: N = 4482; DZ: N = 9838 pairs), full- (N = 1,278,086) and half-siblings (paternal: N = 7767; maternal N = 70,553) who grew up together suggested that factors explaining familial resemblance for drug abuse as defined through medical or criminal registries were mostly the same. Results showed substantial heritability and moderate contributions of shared environmental factors to drug abuse; both were higher in males versus females, and higher for drug abuse ascertained through criminal than medical records. Because of the low prevalence of both assessments of drug abuse, having access to population data was crucial to obtain stable estimates. Using objective registry data, the authors found that drug abuse-whether ascertained through medical versus criminal records-was highly heritable. Furthermore, shared environmental factors contributed significantly to the liability of drug abuse. Genetic and shared environmental risk factors for these two forms of drug abuse were highly correlated.
Notes
Cites: Proc Assoc Am Physicians. 1999 Mar-Apr;111(2):109-1810220805
Cites: Am J Psychiatry. 2014 Feb;171(2):209-1724077613
Cites: Psychometrika. 2011 Apr 1;76(2):306-31723258944
Cites: Arch Gen Psychiatry. 2007 May;64(5):566-7617485608
Cites: Am J Med Genet. 1996 Sep 20;67(5):473-78886164
Cites: Dev Psychol. 2013 May;49(5):887-9922799581
Cites: Behav Genet. 2014 Jul;44(4):337-4624647834
Cites: Am J Psychiatry. 2015 Jun;172(6):553-6025698436
Cites: Psychometrika. 2016 Jun;81(2):535-4925622929
Cites: Twin Res Hum Genet. 2006 Aug;9(4):481-916899154
Cites: Twin Res Hum Genet. 2006 Dec;9(6):875-8217254424
Cites: Addict Behav. 2006 Jun;31(6):1010-3416723188
Cites: Arch Gen Psychiatry. 2012 Jul;69(7):690-722393206
Cites: Bull World Health Organ. 2013 Feb 1;91(2):102-2323554523
Cites: Am J Psychiatry. 2001 Jul;158(7):1091-811431231
Cites: JAMA Psychiatry. 2014 Apr;71(4):439-4524576925
PubMed ID
27480873 View in PubMed
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Candidate locus analysis of familial ascending aortic aneurysms and dissections confirms the linkage to the chromosome 5q13-14 in Finnish families.

https://arctichealth.org/en/permalink/ahliterature53514
Source
J Thorac Cardiovasc Surg. 2003 Jul;126(1):106-13
Publication Type
Article
Date
Jul-2003
Author
Sakari Kakko
Tuija Räisänen
Minna Tamminen
Juhani Airaksinen
Kaj Groundstroem
Tatu Juvonen
Antti Ylitalo
Paavo Uusimaa
Markku J Savolainen
Author Affiliation
Department of Internal Medicine and Biocenter Oulu, University of Oulu, Finland.
Source
J Thorac Cardiovasc Surg. 2003 Jul;126(1):106-13
Date
Jul-2003
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Aneurysm, Dissecting - genetics
Aorta - pathology
Aortic Aneurysm, Thoracic - genetics
Chromosome Mapping
Chromosomes, Human, Pair 5 - genetics
Comparative Study
Coronary Disease - genetics
Family Health
Female
Finland
Genetic Heterogeneity
Genetic Markers - genetics
Genetic Predisposition to Disease - genetics
Genotype
Humans
Linkage (Genetics) - genetics
Male
Middle Aged
Pedigree
Research Support, Non-U.S. Gov't
Abstract
OBJECTIVE: The purpose of the study was to carry out a candidate gene analysis in families with familial thoracic aortic aneurysms and dissections. METHODS: The study material consisted of 11 Finnish families (with 115 members genotyped) who underwent echocardiographic examination for measurement of the aortic root diameter. Selected candidate genes included the loci for Marfan and Ehlers-Danlos syndromes, the genes of matrix metalloproteinases 3 and 9 and tissue inhibitor of metalloproteinase 2 as well two loci on the chromosomes 5q13-14 and 11q23.2-q24, previously found to be linked to the disease. RESULTS: The chromosomal locus 5q13-14 was linked to the disease risk (nonparametric linkage score 3.0, P =.005) confirming the previous linkage. Other candidate genes and loci were excluded as major loci in these families. CONCLUSIONS: The identification of the gene at chromosomal location 5q13-14 causing the development of such diseases would give us important knowledge on the pathogenesis of the disease and enable the identification of subjects at risk. This in turn would lead to appropriate treatment before the occurrence of fatal complications and, likely, to the development of new treatment methods.
PubMed ID
12878945 View in PubMed
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