Transmission disequilibrium test for correlation between TMX gene polymorphisms and susceptibility of congenital hypertrophic pyloric stenosis

( views:1250, downloads:0 )
FENG Zhi-qiang(Department of Gastroenterology, The First Municipal People's Hospital of Guangzhou, Guangzhou Key Laboratory of Digestive Disease, Guangzhou Medical College, Guangzhou 510180, China)
NIE Yu-qiang(Department of Gastroenterology, The First Municipal People's Hospital of Guangzhou, Guangzhou Key Laboratory of Digestive Disease, Guangzhou Medical College, Guangzhou 510180, China)
ZHANG You-xiang()
WENG Zhi-yuan()
XIAO Xue()
Journal Title:
Chinese Journal of Biomedical Engineering
Volume 18, Issue 03, 2012
Key Word:
Pyloric stenosis,hypertrophic;TMX gene;Genetic predisposition to disease;Transmission disequilibrium test

Abstract: Objective To investigate the correlation between susceptibility of congenital hypertrophic pyloric stenosis (CHPS) and TMX gene nucleotide polymorphism sites rs7161242 (c.492T>G) and rs7160810 (c.648G>A).Methods Twenty-two key families comprised of patients with CHPS and their parents from The Municipal First People' s Hospital of Guangzhou were recruited.Polymerase chain reaction and gene sequeneing were conducted for genotyping,and the correlation between polymorphism and susceptibility of CHPS was determined via transmission disequilibrium test (TDT).Results Gene sequencing did not show evidence of novel mutant sites.Hardy- Weinberg equilibrium test on both polymorphism sites between CHPS patients and their parents failed to yield statistical significanee(P>0.05).The G allele of rs7161242 and A allele of rs7160810 were correlated with incidence of CHPS (P=2.0× 10 -4 and 5.699 × 10-5,respectively),as shown by TDT.Linkage disequilibrium analysis prodnced r2 vaiue of 0.757 and D′ value of 0.893 between both sites.Conclusion TMX gene polymorphism sites,rs7161242 (c.492T>G) and rs7160810 (c.648G>A),are correlated with incidence of CHPS in Chinese Han population.

  • [1]Doyle D,O′Neill M,Kelly D.Changing trends in the management of infantile hypcrtrophic pyloric stenosis—an audit over 11 years.Ir J Med Sci,2005,174:33-35.
  • [2]冯志强,聂玉强.TMX基因多态性与先天性肥厚性幽门狭窄的相关性研究.广东医学,2010,31:703-706.
  • [3]Hernanz-Schulman M.Infantile hypertrophic pyloric stenosis.Radiology,2003,227:319-331.
  • [4]Rodriguez S,Gaunt TR,Day IN.Hardy-Weinberg equilibrium testing of biological ascertainment for Mendelian randomization stuties.Am J Epidemiol,2009,169:505-514.
  • [5]Saur D,Vanderwinden JM,Seidler B,et al.Singlc-nuclcotide promoter polymorphism alters transcription of neuronal nitric oxide synthase exon le in infantile hypertrophic pyloric stenosis.Proc Natl Acad Sci USA,2004,101:1662-1667.
  • [6]Hauben M,Amsden GW.The association of erythromycin and infantile hypertrophic pyloric stenosis:causal or coincidental? Drug Saf,2002,25:929-942.
  • [7]Everett KV,Chioza BA,Georgoula C,et al.Infantile hypertrophic pylorie stenosis:evaluation of three positional candidate genes,TRPC1,TRPC5 and TRPC6,by association analysis and re-seguencing.Hum Genet,2009,126:819-831.
  • [8]冯志强,聂玉强,张又祥.胃动素基因多态性与先天性肥厚性幽门狭窄的相关性中华生物医学工程杂志,2010,16:255-258.
  • [9]Sanders CR,Myers JK.Disease-related misassembly of membrane proteins.Annu Rev Biophys Biomol Struct,2004,33:25-51.
  • [10]Spielman RS,McGinnis RE,Ewens WJ.Transmission test for linkage disequilibrium:the insulin gene region and insulindependent diabetes mellitus (IDDM).Am J Hun Genet,1993,52:506-516.
  • [11]Thomson G.Mapping disease genes:family-based association studies.Am J Hum Genet,1995,57:487-498.
  • [12]Spielman RS,Ewens WJ.The TDT and other family-based tests for linkage disequilibrium and association.Am J Hum Genet,1996,59:983-989.
  • [13]Ewens WJ,Spielman RS.The transmission/disequilibrium test:history,subdivision,and admixture.Am J Hum Genet,1995,57:455-464.
  • [14]Schwartz S,Hall E,Ast G.SROOGLE:webserver for integrative,user-friendly visualization of splicing signals.Nucleic Acids Res,2009,37:189-192.
WanfangData CO.,Ltd All Rights Reserved
About WanfangData | Contact US
Healthcare Department, Fuxing Road NO.15, Haidian District Beijing, 100038 P.R.China
Tel:+86-010-58882616 Fax:+86-010-58882615