Literature DB >> 12915452

The Newfoundland population: a unique resource for genetic investigation of complex diseases.

Proton Rahman1, Albert Jones, Joseph Curtis, Sylvia Bartlett, Lynette Peddle, Bridget A Fernandez, Nelson B Freimer.   

Abstract

The population of the province of Newfoundland and Labrador is genetically isolated. This isolation is evidenced by an overabundance of several monogenic disorders. The Newfoundland population, like that of other isolates, is now the focus of interest for identification of genes implicated in common diseases. However, the utility of such populations for this purpose remains unproven. In this paper, we review the current genetic architecture of the province, with respect to geographic isolation, homogeneity, founder effect, genetic drift and extended linkage disequilibrium. Based on these factors, we propose that the population of Newfoundland offers many advantages for genetic mapping of common diseases, compared with admixed populations, and even compared with other isolates.

Mesh:

Year:  2003        PMID: 12915452     DOI: 10.1093/hmg/ddg257

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  32 in total

1.  Genetic structure of the Newfoundland and Labrador population: founder effects modulate variability.

Authors:  Guangju Zhai; Jiayi Zhou; Michael O Woods; Jane S Green; Patrick Parfrey; Proton Rahman; Roger C Green
Journal:  Eur J Hum Genet       Date:  2015-12-16       Impact factor: 4.246

2.  Identifying nineteenth century genealogical links from genotypes.

Authors:  Jim Stankovich; Melanie Bahlo; Justin P Rubio; Christopher R Wilkinson; Russell Thomson; Annette Banks; Maree Ring; Simon J Foote; Terence P Speed
Journal:  Hum Genet       Date:  2005-05-10       Impact factor: 4.132

3.  "Awakening to" a new meaning of being at-risk for arrhythmogenic right ventricular cardiomyopathy: a grounded theory study.

Authors:  April Manuel; Fern Brunger
Journal:  J Community Genet       Date:  2015-01-27

4.  Of founder populations, long QT syndrome, and destiny.

Authors:  Paul A Brink; Peter J Schwartz
Journal:  Heart Rhythm       Date:  2009-09-03       Impact factor: 6.343

5.  Surgical treatment choices for breast cancer in Newfoundland and Labrador: a retrospective cohort study.

Authors:  Farah McCrate; Elizabeth Dicks; Erin Powell; Joanne Chafe; Rebecca Roome; Charlene Simmonds; Holly Etchegary
Journal:  Can J Surg       Date:  2018-12-01       Impact factor: 2.089

6.  The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease.

Authors:  M O Woods; H B Younghusband; P S Parfrey; S Gallinger; J McLaughlin; E Dicks; S Stuckless; A Pollett; B Bapat; M Mrkonjic; A de la Chapelle; M Clendenning; S N Thibodeau; M Simms; A Dohey; P Williams; D Robb; C Searle; J S Green; R C Green
Journal:  Gut       Date:  2010-08-03       Impact factor: 23.059

7.  Vitamin D insufficiency common in newborns, children and pregnant women living in Newfoundland and Labrador, Canada.

Authors:  Leigh A Newhook; Scott Sloka; Marie Grant; Edward Randell; Christopher S Kovacs; Laurie K Twells
Journal:  Matern Child Nutr       Date:  2009-04       Impact factor: 3.092

8.  Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

Authors:  Zubair M Ahmed; Xiaoyan Cindy Li; Shontell D Powell; Saima Riazuddin; Terry-Lynn Young; Khushnooda Ramzan; Zahoor Ahmad; Sandra Luscombe; Kiran Dhillon; Linda MacLaren; Barbara Ploplis; Lawrence I Shotland; Elizabeth Ives; Sheikh Riazuddin; Thomas B Friedman; Robert J Morell; Edward R Wilcox
Journal:  BMC Med Genet       Date:  2004-09-24       Impact factor: 2.103

9.  Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL.

Authors:  Nelly Abdelfatah; David A McComiskey; Lance Doucette; Anne Griffin; Susan J Moore; Carol Negrijn; Kathy A Hodgkinson; Justin J King; Mani Larijani; Jim Houston; Susan G Stanton; Terry-Lynn Young
Journal:  Eur J Hum Genet       Date:  2013-02-27       Impact factor: 4.246

10.  Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.

Authors:  Lance Doucette; Nancy D Merner; Sandra Cooke; Elizabeth Ives; Dante Galutira; Vanessa Walsh; Tom Walsh; Linda MacLaren; Tracey Cater; Bridget Fernandez; Jane S Green; Edward R Wilcox; Lawrence I Shotland; Larry Shotland; Xiaoyan Cindy Li; X C Li; Ming Lee; Mary-Claire King; Terry-Lynn Young
Journal:  Eur J Hum Genet       Date:  2008-12-24       Impact factor: 4.246

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.