Literature DB >> 7789957

High incidence of cystic fibrosis on the Faroe Islands: a molecular and genealogical study.

M Schwartz1, N Sørensen, N J Brandt, E Høgdall, T Holm.   

Abstract

We have studied the genetics of cystic fibrosis (CF) in The Faroe Islands. Based on the number of affected children born during the period 1954-1993, the incidence of CF at birth is 1:1775, which is more than twice the incidence in the rest of Denmark. We have tested all known CF patients and/or their parents for the presence of delta F508 and found it to be the only CF mutation in this population. Based on testing 881 unrelated control individuals, the carrier frequency was estimated to be 1:24, given a calculated incidence of 1:2300. Genealogical studies enabled us to trace several of the families over seven generations. Haplotype investigations within the families suggest that delta F508 was introduced by two founders, probably from the Celtic population in Brittany, Ireland, Wales or the North West of Scotland.

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Year:  1995        PMID: 7789957     DOI: 10.1007/bf00209491

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  14 in total

1.  Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG).

Authors: 
Journal:  Hum Genet       Date:  1990-09       Impact factor: 4.132

2.  Frequency of the delta F508 mutation on cystic fibrosis chromosomes in Denmark.

Authors:  M Schwartz; H K Johansen; C Koch; N J Brandt
Journal:  Hum Genet       Date:  1990-09       Impact factor: 4.132

3.  Rapid nonradioactive detection of the major cystic fibrosis mutation.

Authors:  J Rommens; B S Kerem; W Greer; P Chang; L C Tsui; P Ray
Journal:  Am J Hum Genet       Date:  1990-02       Impact factor: 11.025

4.  Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

Authors:  R K Saiki; D H Gelfand; S Stoffel; S J Scharf; R Higuchi; G T Horn; K B Mullis; H A Erlich
Journal:  Science       Date:  1988-01-29       Impact factor: 47.728

5.  Patterns of polymorphism and linkage disequilibrium for cystic fibrosis.

Authors:  X Estivill; P J Scambler; B J Wainwright; K Hawley; P Frederick; M Schwartz; M Baiget; J Kere; R Williamson; M Farrall
Journal:  Genomics       Date:  1987-11       Impact factor: 5.736

6.  Frequency of four cystic fibrosis mutations in a Swedish population.

Authors:  N Dahl; U Grandell; T Martinsson; M Allen; L Johansson; L Stolpe; U Gyllensten; L Hjelte; H Kollberg; B Strandvik
Journal:  Acta Paediatr       Date:  1993 Jun-Jul       Impact factor: 2.299

7.  Cystic fibrosis in Denmark 1945 to 1985. An analysis of incidence, mortality and influence of centralized treatment on survival.

Authors:  O H Nielsen; B L Thomsen; A Green; P K Andersen; M Hauge; P O Schiøtz
Journal:  Acta Paediatr Scand       Date:  1988-11

8.  Multiplex PCR amplification of three microsatellites within the CFTR gene.

Authors:  N Morral; X Estivill
Journal:  Genomics       Date:  1992-08       Impact factor: 5.736

9.  Screening for carriers of cystic fibrosis among pregnant women: a pilot study.

Authors:  M Schwartz; N J Brandt; F Skovby
Journal:  Eur J Hum Genet       Date:  1993       Impact factor: 4.246

10.  Incidence and survival curves of cystic fibrosis in Sweden.

Authors:  H Kollberg
Journal:  Acta Paediatr Scand       Date:  1982-03
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  9 in total

1.  Polymorphism of CYP2D6, CYP2C19, CYP2C9 and CYP2C8 in the Faroese population.

Authors:  Jónrit Halling; Maria S Petersen; Per Damkier; Flemming Nielsen; Philippe Grandjean; Pál Weihe; Stefan Lundgren; Mia Sandberg Lundblad; Kim Brøsen
Journal:  Eur J Clin Pharmacol       Date:  2005-07-16       Impact factor: 2.953

2.  FarGen - participants in the genetic research infrastructure of the Faroe Islands.

Authors:  Katrin D Apol; Leivur N Lydersen; Ólavur Mortensen; Pál Weihe; Bjarni Á Steig; Guðrið Andorsdóttir; Noomi O Gregersen
Journal:  Scand J Public Health       Date:  2021-10-05       Impact factor: 3.199

3.  The CYP2D6 polymorphism in relation to the metabolism of amitriptyline and nortriptyline in the Faroese population.

Authors:  Jónrit Halling; Pál Weihe; Kim Brosen
Journal:  Br J Clin Pharmacol       Date:  2007-08-31       Impact factor: 4.335

4.  Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy.

Authors:  E Ostergaard; M Batbayli; M Duno; K Vilhelmsen; T Rosenberg
Journal:  J Med Genet       Date:  2010-08-30       Impact factor: 6.318

5.  A novel MERTK deletion is a common founder mutation in the Faroe Islands and is responsible for a high proportion of retinitis pigmentosa cases.

Authors:  Elsebet Ostergaard; Morten Duno; Mustafa Batbayli; Kaj Vilhelmsen; Thomas Rosenberg
Journal:  Mol Vis       Date:  2011-06-04       Impact factor: 2.367

6.  Inflammatory bowel diseases in Faroese-born Danish residents and their offspring: further evidence of the dominant role of environmental factors in IBD development.

Authors:  T Hammer; S N Lophaven; K R Nielsen; M von Euler-Chelpin; P Weihe; P Munkholm; J Burisch; E Lynge
Journal:  Aliment Pharmacol Ther       Date:  2017-02-08       Impact factor: 8.171

7.  Incidence and survival of head and neck cancer in the Faroe Islands.

Authors:  Sunnvá Hanusardóttir Olsen; Jeppe Friborg; Bjarki Ellefsen; Kathrine Kronberg Jakobsen; Kasper Aanæs
Journal:  Int J Circumpolar Health       Date:  2021-12       Impact factor: 1.228

8.  Familial hypercholesterolaemia: a study protocol for identification and investigation of potential causes and markers of subclinical coronary artery disease in the Faroe Islands.

Authors:  Sanna Á Borg; Michael Rene Skjelbo Nielsen; Peter Søgaard; Søren Lundbye-Christensen; Jan Jóanesarson; Tomas Zaremba; Rudi Kollslíð; Erik Berg Schmidt; Albert Marni Joensen; Christian Sørensen Bork
Journal:  BMJ Open       Date:  2022-04-12       Impact factor: 2.692

9.  The Faroese IBD Study: Incidence of Inflammatory Bowel Diseases Across 54 Years of Population-based Data.

Authors:  Turid Hammer; Kári R Nielsen; Pia Munkholm; Johan Burisch; Elsebeth Lynge
Journal:  J Crohns Colitis       Date:  2016-03-01       Impact factor: 9.071

  9 in total

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