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Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysis.
BMC Med Genet. 2011 Feb 25; 12:32.BM

Abstract

BACKGROUND

Hirschsprung's disease (HSCR) is a classic oligogenic disorder. Except inactivating mutations of RET, some single nucleotide polymorphisms (SNPs) are identified to be associated with the risk of HSCR. This study was conducted to examine the impact of the haplotypes profile of the reported associated SNPs of RET on the risk of HSCR in a Southeastern Chinese population.

METHODS

Genotypes of -5G > A (rs10900296), -1A > C (rs10900297), c135G > A (rs1800858), c1296A > G (rs1800860), and c2307T > G (rs1800861) were analyzed in 123 HSCR patients and 168 controls by polymerase chain reaction amplification and direct sequencing. Associations with risk of HSCR were estimated by odds ratio (OR) and their 95% confidence intervals (95% CI) using logistic regression.

RESULTS

We observed a significantly increased risk of HSCR associated with the RET -5AA (OR = 17.75, 95% CI = 7.34-42.92), -1CC (OR = 10.89, 95% CI = 3.13-37.85), 135AA (OR = 13.61, 95% CI = 6.14-30.14), 1296GG (OR = 2.40, 95% CI = 1.38-4.18) or 2307GG (OR = 9.79, 95% CI = 4.28-22.43) respectively. The five SNPs were in strong linkage disequilibrium. The haplotype A-C-A-G-G (OR = 5.06, 95% CI = 1.97-12.99) and diplotype A-C-A-G-G/A-C-A-G-G (OR = 21.08, 95% CI = 5.28-84.09) was also associated with the increased risk of HSCR, indicating a cumulative effect of these SNPs on the susceptibility of HSCR.

CONCLUSION

These results support the hypothesis that common variations in RET pathway might play an important role in development of HSCR.

Authors+Show Affiliations

Department of Pediatric Surgery, Children's Hospital Zhejiang University School of Medicine, Hangzhou, PR China. toujingfa@gmail.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

21349203

Citation

Tou, Jinfa, et al. "Genetic Variants in RET and Risk of Hirschsprung's Disease in Southeastern Chinese: a Haplotype-based Analysis." BMC Medical Genetics, vol. 12, 2011, p. 32.
Tou J, Wang L, Liu L, et al. Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysis. BMC Med Genet. 2011;12:32.
Tou, J., Wang, L., Liu, L., Wang, Y., Zhong, R., Duan, S., Liu, W., Xiong, Q., Gu, Q., Yang, H., & Li, H. (2011). Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysis. BMC Medical Genetics, 12, 32. https://doi.org/10.1186/1471-2350-12-32
Tou J, et al. Genetic Variants in RET and Risk of Hirschsprung's Disease in Southeastern Chinese: a Haplotype-based Analysis. BMC Med Genet. 2011 Feb 25;12:32. PubMed PMID: 21349203.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic variants in RET and risk of Hirschsprung's disease in Southeastern Chinese: a haplotype-based analysis. AU - Tou,Jinfa, AU - Wang,Li, AU - Liu,Li, AU - Wang,Ying, AU - Zhong,Rong, AU - Duan,Shengyu, AU - Liu,Weiguang, AU - Xiong,Qixing, AU - Gu,Qinglong, AU - Yang,Hong, AU - Li,Hui, Y1 - 2011/02/25/ PY - 2010/10/14/received PY - 2011/02/25/accepted PY - 2011/2/26/entrez PY - 2011/2/26/pubmed PY - 2011/5/7/medline SP - 32 EP - 32 JF - BMC medical genetics JO - BMC Med Genet VL - 12 N2 - BACKGROUND: Hirschsprung's disease (HSCR) is a classic oligogenic disorder. Except inactivating mutations of RET, some single nucleotide polymorphisms (SNPs) are identified to be associated with the risk of HSCR. This study was conducted to examine the impact of the haplotypes profile of the reported associated SNPs of RET on the risk of HSCR in a Southeastern Chinese population. METHODS: Genotypes of -5G > A (rs10900296), -1A > C (rs10900297), c135G > A (rs1800858), c1296A > G (rs1800860), and c2307T > G (rs1800861) were analyzed in 123 HSCR patients and 168 controls by polymerase chain reaction amplification and direct sequencing. Associations with risk of HSCR were estimated by odds ratio (OR) and their 95% confidence intervals (95% CI) using logistic regression. RESULTS: We observed a significantly increased risk of HSCR associated with the RET -5AA (OR = 17.75, 95% CI = 7.34-42.92), -1CC (OR = 10.89, 95% CI = 3.13-37.85), 135AA (OR = 13.61, 95% CI = 6.14-30.14), 1296GG (OR = 2.40, 95% CI = 1.38-4.18) or 2307GG (OR = 9.79, 95% CI = 4.28-22.43) respectively. The five SNPs were in strong linkage disequilibrium. The haplotype A-C-A-G-G (OR = 5.06, 95% CI = 1.97-12.99) and diplotype A-C-A-G-G/A-C-A-G-G (OR = 21.08, 95% CI = 5.28-84.09) was also associated with the increased risk of HSCR, indicating a cumulative effect of these SNPs on the susceptibility of HSCR. CONCLUSION: These results support the hypothesis that common variations in RET pathway might play an important role in development of HSCR. SN - 1471-2350 UR - https://www.unboundmedicine.com/medline/citation/21349203/Genetic_variants_in_RET_and_risk_of_Hirschsprung's_disease_in_Southeastern_Chinese:_a_haplotype_based_analysis_ L2 - https://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2350-12-32 DB - PRIME DP - Unbound Medicine ER -