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基质金属蛋白酶-1基因（MATN1）与特发性脊柱侧凸之间存在关联的证据。

Evidence of a linkage between matrilin-1 gene (MATN1) and idiopathic scoliosis.

作者信息

Montanaro Lucio, Parisini Patrizio, Greggi Tiziana, Di Silvestre Mario, Campoccia Davide, Rizzi Simona, Arciola Carla Renata

机构信息

Research Unit on Implant Infections, Molecular Pathology Section, Rizzoli Orthopaedic Institute, Bologna, Italy.

Experimental Pathology Department, University of Bologna, Italy.

出版信息

Scoliosis. 2006 Dec 18;1:21. doi: 10.1186/1748-7161-1-21.

DOI:10.1186/1748-7161-1-21
PMID:17176459
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1769398/
Abstract

BACKGROUND

In a previous study, a number of genes, associated with spine musculoskeletal deformity phenotypes in mouse and in synteny between mouse and man, were identified as candidate genes for IS. Among these genes, MATN1, which carries a polymorphic microsatellite marker within its sequence, was selected for a linkage analysis. MATN1 is localised at 1p35 and is mainly expressed in cartilage. The objective of this study was to assess a linkage disequilibrium between the matrilin-1 (MATN1) gene and the idiopathic scoliosis (IS).

METHODS

The genetic study was conducted on a population of 81 trios, each consistent of a daughter/son affected by idiopathic scoliosis (IS) and both parents. In all trios components, the region of MATN1 gene containing the microsatellite marker was amplified by a polymerase chain reaction. The amplicons were analysed by a DNA sequencer-genotyper. The statistical linkage analysis was performed using the extended transmission/disequilibrium test.

RESULTS

Three microsatellite polymorphisms, respectively consisting of 103 bp, 101 bp and 99 bp, were identified. ETDT evidenced a significant preferential transmission for the 103 bp allele (Chi-square = 5.058, df = 1, P = 0.024)

CONCLUSION

The results suggest that the familial idiopathic scoliosis is associated to the MATN1 gene.

摘要

背景

在之前的一项研究中，一些与小鼠脊柱肌肉骨骼畸形表型以及小鼠与人之间的同线性相关的基因被确定为特发性脊柱侧凸（IS）的候选基因。在这些基因中，MATN1因其序列中携带一个多态性微卫星标记而被选作连锁分析。MATN1定位于1p35，主要在软骨中表达。本研究的目的是评估基质金属蛋白酶-1（MATN1）基因与特发性脊柱侧凸（IS）之间的连锁不平衡。

方法

对81个三联体人群进行了基因研究，每个三联体由一名患有特发性脊柱侧凸（IS）的女儿/儿子及其父母组成。在所有三联体成员中，通过聚合酶链反应扩增包含微卫星标记的MATN1基因区域。扩增产物通过DNA测序仪-基因分型仪进行分析。使用扩展传递/不平衡检验进行统计连锁分析。

结果

鉴定出三个微卫星多态性，分别由103 bp、101 bp和99 bp组成。扩展传递/不平衡检验表明103 bp等位基因存在显著的优先传递（卡方 = 5.058，自由度 = 1，P = 0.024）。

结论

结果表明家族性特发性脊柱侧凸与MATN1基因相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e8db/1769398/80d190496f46/1748-7161-1-21-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e8db/1769398/f402916e5ac9/1748-7161-1-21-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e8db/1769398/80d190496f46/1748-7161-1-21-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e8db/1769398/f402916e5ac9/1748-7161-1-21-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e8db/1769398/80d190496f46/1748-7161-1-21-2.jpg

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本文引用的文献

1
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2
Association between adolescent idiopathic scoliosis prevalence and age at menarche in different geographic latitudes.不同地理纬度下青少年特发性脊柱侧凸患病率与初潮年龄之间的关联。
Scoliosis. 2006 May 23;1:9. doi: 10.1186/1748-7161-1-9.
3
Evidence for extensive transmission distortion in the human genome.人类基因组中广泛存在传递扭曲的证据。
Severity of Idiopathic Scoliosis Is Associated with Differential Methylation: An Epigenome-Wide Association Study of Monozygotic Twins with Idiopathic Scoliosis.
特发性脊柱侧凸的严重程度与差异甲基化有关：特发性脊柱侧凸同卵双胞胎的全基因组关联研究。
Genes (Basel). 2021 Jul 30;12(8):1191. doi: 10.3390/genes12081191.
4
Whole Exome Sequencing of 23 Multigeneration Idiopathic Scoliosis Families Reveals Enrichments in Cytoskeletal Variants, Suggests Highly Polygenic Disease.对 23 个多代特发性脊柱侧凸家系的全外显子组测序揭示细胞骨架变异的富集，提示高度多基因疾病。
Genes (Basel). 2021 Jun 16;12(6):922. doi: 10.3390/genes12060922.
5
Estrogen Receptors (ESRs) Mutations in Adolescent Idiopathic Scoliosis: A Cross-Sectional Study.青少年特发性脊柱侧凸中雌激素受体 (ESR) 突变：一项横断面研究。
Med Sci Monit. 2020 Mar 16;26:e921611. doi: 10.12659/MSM.921611.
6
Mice Lacking the Matrilin Family of Extracellular Matrix Proteins Develop Mild Skeletal Abnormalities and Are Susceptible to Age-Associated Osteoarthritis.缺乏细胞外基质蛋白 Matrilin 家族的小鼠出现轻度骨骼异常，并易患与年龄相关的骨关节炎。
Int J Mol Sci. 2020 Jan 19;21(2):666. doi: 10.3390/ijms21020666.
7
Lamins and bone disorders: current understanding and perspectives.核纤层蛋白与骨疾病：当前的认识与展望
Oncotarget. 2018 Apr 27;9(32):22817-22831. doi: 10.18632/oncotarget.25071.
8
Etiological Theories of Adolescent Idiopathic Scoliosis: Past and Present.青少年特发性脊柱侧凸的病因理论：过去与现在
Open Orthop J. 2017 Dec 29;11:1466-1489. doi: 10.2174/1874325001711011466. eCollection 2017.
9
Association between Estrogen Receptor Alpha Gene Polymorphisms and Susceptibility to Idiopathic Scoliosis in Bulgarian Patients: A Case-Control Study.雌激素受体α基因多态性与保加利亚特发性脊柱侧凸患者易感性的关联：一项病例对照研究
Open Access Maced J Med Sci. 2015 Jun 15;3(2):278-82. doi: 10.3889/oamjms.2015.054. Epub 2015 May 20.
10
Predictors of spine deformity progression in adolescent idiopathic scoliosis: A systematic review with meta-analysis.青少年特发性脊柱侧凸脊柱畸形进展的预测因素：一项系统评价与荟萃分析
World J Orthop. 2015 Aug 18;6(7):537-58. doi: 10.5312/wjo.v6.i7.537.
Am J Hum Genet. 2004 Jan;74(1):62-72. doi: 10.1086/381131. Epub 2003 Dec 15.
4
Familial idiopathic scoliosis: evidence of an X-linked susceptibility locus.家族性特发性脊柱侧凸：X连锁易感性位点的证据。
Spine (Phila Pa 1976). 2003 Mar 15;28(6):589-94. doi: 10.1097/01.BRS.0000049940.39801.E6.
5
Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11.常染色体显性特发性脊柱侧凸（IS）的一个基因座定位于人类染色体17p11。
Hum Genet. 2002 Oct;111(4-5):401-4. doi: 10.1007/s00439-002-0785-4. Epub 2002 Aug 21.
6
Detection of the G-->T polymorphism at the Sp1 binding site of the collagen type I alpha 1 gene by a novel ARMS-PCR method.
Genet Test. 2002 Spring;6(1):53-7. doi: 10.1089/109065702760093924.
7
Genetics of familial idiopathic scoliosis.
Clin Orthop Relat Res. 2002 Aug(401):60-4. doi: 10.1097/00003086-200208000-00009.
8
A genetic locus for adolescent idiopathic scoliosis linked to chromosome 19p13.3.一个与19号染色体p13.3区域相关的青少年特发性脊柱侧凸基因位点。
Am J Hum Genet. 2002 Aug;71(2):401-6. doi: 10.1086/341607. Epub 2002 Jun 28.
9
[Analysis of polymorphism of the number of tandem repeats in the aggrecan gene exon G3 in the families with idiopathic scoliosis].
Genetika. 2002 Feb;38(2):259-63.
10
Linkage disequilibrium and the search for complex disease genes.连锁不平衡与复杂疾病基因的搜寻
Genome Res. 2000 Oct;10(10):1435-44. doi: 10.1101/gr.144500.