Literature DB >> 12094330

A genetic locus for adolescent idiopathic scoliosis linked to chromosome 19p13.3.

Vivian Chan1, Gardian C Y Fong, Keith D K Luk, Ben Yip, Miu-Kuen Lee, Man-Sim Wong, David D S Lu, Tai-Kwong Chan.   

Abstract

Adolescent idiopathic scoliosis (AIS) is one of the most common orthopedic disorders, affecting up to 4% of schoolchildren worldwide. We studied seven unrelated multiplex families of southern Chinese descent with AIS, consisting of 25 affected members. A genomewide scan with >400 fluorescent microsatellite markers was performed. Multipoint linkage analysis by GENEHUNTER revealed significant linkage of the abnormal phenotype to the distal short arm of chromosome 19, with both a maximum multipoint LOD score and a nonparametric LOD score of 4.93. Two-point linkage analysis by MLINK gave a LOD score of 3.63 (recombination fraction theta[m=f]=0.00) at D19S216. Further high-density mapping and informative recombinations defined the AIS critical region in the vicinity of D19S216, flanked by D19S894 and D19S1034, spanning 5.2 cM on the sex-averaged genetic map on chromosome 19p13.3.

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Year:  2002        PMID: 12094330      PMCID: PMC379172          DOI: 10.1086/341607

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


  17 in total

Review 1.  Spine update: genetics of familial idiopathic scoliosis.

Authors:  N Hadley Miller
Journal:  Spine (Phila Pa 1976)       Date:  2000-09-15       Impact factor: 3.468

2.  Localization of susceptibility to familial idiopathic scoliosis.

Authors:  C A Wise; R Barnes; J Gillum; J A Herring; A M Bowcock; M Lovett
Journal:  Spine (Phila Pa 1976)       Date:  2000-09-15       Impact factor: 3.468

3.  HEREDITARY SCOLIOSIS.

Authors:  H G Garland
Journal:  Br Med J       Date:  1934-02-24

4.  Strategies for characterizing highly polymorphic markers in human gene mapping.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

5.  Parametric and nonparametric linkage analysis: a unified multipoint approach.

Authors:  L Kruglyak; M J Daly; M P Reeve-Daly; E S Lander
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

6.  Anterior release and fusion in pediatric spinal deformity. A comparison of early outcome and cost of thoracoscopic and open thoracotomy approaches.

Authors:  P O Newton; D R Wenger; S J Mubarak; R S Meyer
Journal:  Spine (Phila Pa 1976)       Date:  1997-06-15       Impact factor: 3.468

7.  Genetic aspects of idiopathic scoliosis. A Nicholas Andry Award essay, 1970.

Authors:  H R Cowell; J N Hall; G D MacEwen
Journal:  Clin Orthop Relat Res       Date:  1972 Jul-Aug       Impact factor: 4.176

8.  Incorrect specification of marker allele frequencies: effects on linkage analysis.

Authors:  N B Freimer; L A Sandkuijl; S M Blower
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025

Review 9.  Adolescent idiopathic scoliosis: review and current concepts.

Authors:  B V Reamy; J B Slakey
Journal:  Am Fam Physician       Date:  2001-07-01       Impact factor: 3.292

10.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

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  39 in total

Review 1.  Recent advances in the aetiology of adolescent idiopathic scoliosis.

Authors:  Kenneth M C Cheung; T Wang; G X Qiu; Keith D K Luk
Journal:  Int Orthop       Date:  2007-06-16       Impact factor: 3.075

2.  Identification of susceptibility loci for scoliosis in FIS families with triple curves.

Authors:  Beth Marosy; Cristina M Justice; Cuong Vu; Andrew Zorn; Nneka Nzegwu; Alexander F Wilson; Nancy H Miller
Journal:  Am J Med Genet A       Date:  2010-04       Impact factor: 2.802

3.  What is the best way to determine the cause of adolescent idiopathic scoliosis?

Authors:  Marcelo Wajchenberg; Delio Eulalio Martins; Monize Lazar
Journal:  Ann Transl Med       Date:  2015-03

4.  Participation of sex hormones in multifactorial pathogenesis of adolescent idiopathic scoliosis.

Authors:  Aleksandra Kulis; Anna Goździalska; Jagoda Drąg; Jerzy Jaśkiewicz; Małgorzata Knapik-Czajka; Ewa Lipik; Daniel Zarzycki
Journal:  Int Orthop       Date:  2015-03-25       Impact factor: 3.075

5.  SNTG1, the gene encoding gamma1-syntrophin: a candidate gene for idiopathic scoliosis.

Authors:  Stavros Bashiardes; Rose Veile; Missy Allen; Carol A Wise; Mathew Dobbs; Jose A Morcuende; Lazlos Szappanos; John A Herring; Anne M Bowcock; Michael Lovett
Journal:  Hum Genet       Date:  2004-04-16       Impact factor: 4.132

6.  Males with familial idiopathic scoliosis: a distinct phenotypic subgroup.

Authors:  Mark Clough; Cristina M Justice; Beth Marosy; Nancy H Miller
Journal:  Spine (Phila Pa 1976)       Date:  2010-01-15       Impact factor: 3.468

7.  Familial adolescent-onset scoliosis and later segmental dystonia in an Irish family.

Authors:  Sean O'Riordan; Timothy Lynch; Michael Hutchinson
Journal:  J Neurol       Date:  2004-07       Impact factor: 4.849

8.  Promoter polymorphism of matrilin-1 gene predisposes to adolescent idiopathic scoliosis in a Chinese population.

Authors:  Zhijun Chen; Nelson L S Tang; Xingbin Cao; Di Qiao; Long Yi; Jack C Y Cheng; Yong Qiu
Journal:  Eur J Hum Genet       Date:  2008-11-05       Impact factor: 4.246

9.  Understanding genetic factors in idiopathic scoliosis, a complex disease of childhood.

Authors:  Carol A Wise; Xiaochong Gao; Scott Shoemaker; Derek Gordon; John A Herring
Journal:  Curr Genomics       Date:  2008-03       Impact factor: 2.236

10.  Genetic markers for idiopathic scoliosis in arab population: a pilot study.

Authors:  Abdallah S Al-Omran; Mir Sadat-Ali; Abdallah A Al-Othman
Journal:  Asian Spine J       Date:  2009-12-31
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