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

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. Key words: Pyloric stenosis,hypertrophic; TMX gene; Genetic predisposition to disease; Transmission disequilibrium test