Jun-Jie Ju1, Hong Gao, Hui Li, Yao Lu, Li-Li Wang, Zheng-Wei Yuan. 1. Key Laboratory of Health Ministry for Congenital Malformation, Shengjing Hospital, China Medical University, Shenyang, 110004, People's Republic of China.
Abstract
PURPOSE: Our aim is to verify the association of three Single nucleotide polymorphisms (SNPs) (-218A/G, -254C/G, -361A/T) in the promoter of TRPC6 in 168 sporadic cases with infantile hypertrophic pyloric stenosis (IHPS) and 164 controls in Chinese people. METHODS: All participants were genotyped using polymerase chain reaction and direct sequencing. And the χ(2) value was calculated. A value of P less than 0.05 was considered statistically significant. We also got the P value of Hardy-Weinberg equilibrium test, and the value of P greater than 0.05 was assumed to be at Hardy-Weinberg equilibrium in this population. RESULTS: The results tell us that there are no significant differences in the allele and genotype frequencies of all these three SNPs between the case and the control groups (P > 0.05). CONCLUSION: These three TRPC6 SNPs have no association with the IHPS in Chinese people. However, we cannot deny that TRPC6 would be a susceptible gene with IHPS in Chinese people. May be other SNPs in TRPC6 would have some association with the IHPS in Chinese people. But in this study our results may be due to the fact that these SNPs are not the functional SNPs for the development of IHPS in Chinese people.
PURPOSE: Our aim is to verify the association of three Single nucleotide polymorphisms (SNPs) (-218A/G, -254C/G, -361A/T) in the promoter of TRPC6 in 168 sporadic cases with infantile hypertrophic pyloric stenosis (IHPS) and 164 controls in Chinese people. METHODS: All participants were genotyped using polymerase chain reaction and direct sequencing. And the χ(2) value was calculated. A value of P less than 0.05 was considered statistically significant. We also got the P value of Hardy-Weinberg equilibrium test, and the value of P greater than 0.05 was assumed to be at Hardy-Weinberg equilibrium in this population. RESULTS: The results tell us that there are no significant differences in the allele and genotype frequencies of all these three SNPs between the case and the control groups (P > 0.05). CONCLUSION: These three TRPC6 SNPs have no association with the IHPS in Chinese people. However, we cannot deny that TRPC6 would be a susceptible gene with IHPS in Chinese people. May be other SNPs in TRPC6 would have some association with the IHPS in Chinese people. But in this study our results may be due to the fact that these SNPs are not the functional SNPs for the development of IHPS in Chinese people.
Authors: Kate V Everett; Barry A Chioza; Christina Georgoula; Ashley Reece; Francesca Capon; Keith A Parker; Cathy Cord-Udy; Paul McKeigue; Sally Mitton; Agostino Pierro; Prem Puri; Hannah M Mitchison; Eddie M K Chung; R Mark Gardiner Journal: Am J Hum Genet Date: 2008-02-28 Impact factor: 11.025
Authors: Alexander Dietrich; Michael Mederos y Schnitzler; Jens Emmel; Hermann Kalwa; Thomas Hofmann; Thomas Gudermann Journal: J Biol Chem Date: 2003-09-11 Impact factor: 5.157
Authors: Ying Yu; Ivana Fantozzi; Carmelle V Remillard; Judd W Landsberg; Naomi Kunichika; Oleksandr Platoshyn; Donna D Tigno; Patricia A Thistlethwaite; Lewis J Rubin; Jason X-J Yuan Journal: Proc Natl Acad Sci U S A Date: 2004-09-09 Impact factor: 11.205
Authors: Kate V Everett; Barry A Chioza; Christina Georgoula; Ashley Reece; R Mark Gardiner; Eddie M K Chung Journal: Hum Genet Date: 2009-12 Impact factor: 4.132
Authors: Saskia F Heeringa; Clemens C Möller; Jianyang Du; Lixia Yue; Bernward Hinkes; Gil Chernin; Christopher N Vlangos; Peter F Hoyer; Jochen Reiser; Friedhelm Hildebrandt Journal: PLoS One Date: 2009-11-10 Impact factor: 3.240