RET 3′UTR polymorphisms and its protective role in Hirschsprung disease in Southeastern Chinese

Pan, Zhiwen; Luo, Chun-Fen; Liu, Zhengji; Li, Jicheng

doi:10.1016/j.jpedsurg.2012.03.057

Cited by 5 publications

(8 citation statements)

References 15 publications

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“…Allele frequencies in our tested normal population were similar with frequencies in previously reported in a European control population [13] and greatly varied from an Asian control population [2], [10], [14], [15].…”

Section: Discussionsupporting

confidence: 87%

“…Besides the risk haplotype at the 5′ end of the RET proto-oncogene, a protective function of the 3′ half of the gene was proposed. SNPs in this region encompassing rs1799939 up to 3′UTR variants were reported as underrepresented in HSCR patients [3], [9], [10]. We cannot confirm this hypothesis because we detected several SNPs with increased risk in this region.…”

Section: Discussionmentioning

confidence: 70%

“…Moreover, after pruning from the effect of 5′ region haploblock, variant allele frequencies of rs1800861 and rs2565200 still significantly differed in comparison of patients and controls and were associated with the risk of HSCR. In rs2435355, a divergent tendency was observed in Czech patients that differed from a study of Chinese patients [10] which instead had a protective role. Perhaps the discrepancy in the theory of protective 3′ half gene role can be due to various studied cohorts and ethnic differences.…”

Section: Discussionmentioning

confidence: 70%

“…A haplotype spanning 27 kb of the 5′UTR region to exon 2 was determined as HSCR-associated [2], [6]–[8]. The investigation of 3′UTR variants underrepresented in HSCR patients resulted in the suggestion of the protective haplotype in 3′UTR [9]–[10].…”

Section: Introductionmentioning

confidence: 99%

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RET Variants and Haplotype Analysis in a Cohort of Czech Patients with Hirschsprung Disease

Václavíková

Dvořáková²,

Škába³

et al. 2014

PLoS ONE

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Hirschsprung disease (HSCR) is a congenital aganglionosis of myenteric and submucosal plexuses in variable length of the intestine. This study investigated the influence and a possible modifying function of RET proto-oncogene's single nucleotide polymorphisms (SNPs) and haplotypes in the development and phenotype of the disease in Czech patients. Genotyping of 14 SNPs was performed using TaqMan Genotyping Assays and direct sequencing. The frequencies of SNPs and generated haplotypes were statistically evaluated using chi-square test and the association with the risk of HSCR was estimated by odds ratio. SNP analysis revealed significant differences in frequencies of 11 polymorphic RET variants between 162 HSCR patients and 205 unaffected controls. Particularly variant alleles of rs1864410, rs2435357, rs2506004 (intron 1), rs1800858 (exon 2), rs1800861 (exon 13), and rs2565200 (intron 19) were strongly associated with increased risk of HSCR (p<0.00000) and were over-represented in males vs. females. Conversely, variant alleles of rs1800860, rs1799939 and rs1800863 (exons 7, 11, 15) had a protective role. The haploblock comprising variants in intron 1 and exon 2 was constructed. It represented a high risk of HSCR, however, the influence of other variants was also found after pruning from effect of this haploblock. Clustering patients according to genotype status in haploblock revealed a strong co-segregation with several SNPs and pointed out the differences between long and short form of HSCR. This study involved a large number of SNPs along the entire RET proto-oncogene with demonstration of their risk/protective role also in haplotype and diplotype analysis in the Czech population. The influence of some variant alleles on the aggressiveness of the disease and their role in gender manifestation differences was found. These data contribute to worldwide knowledge of the genetics of HSCR.

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Section: Discussionsupporting

confidence: 87%

Section: Discussionmentioning

confidence: 70%

Section: Discussionmentioning

confidence: 70%

Section: Introductionmentioning

confidence: 99%

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RET Variants and Haplotype Analysis in a Cohort of Czech Patients with Hirschsprung Disease

Václavíková

Dvořáková²,

Škába³

et al. 2014

PLoS ONE

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“…Several polymorphisms in RET have been illustrated to have associations with HSCR (Pan et al, 2012) (Angrist et al, 1993). Ying Zeng found that SNPs in pre-miR-146a were associated with gastric cancer susceptibility in Han Chinese population (Zeng, 2010).…”

Section: Discussionmentioning

confidence: 99%

A common polymorphism in pre-miR-146a underlies Hirschsprung disease risk in Han Chinese

Zhu¹,

Cai

Zhu

et al. 2014

Experimental and Molecular Pathology

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Associations between RET tagSNPs and their haplotypes and susceptibility, clinical severity, and thyroid function in patients with differentiated thyroid cancer

Jiang

et al. 2017

PLoS ONE

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BackgroundIt is unclear whether common genetic variants of the RET proto-oncogene contribute to disease susceptibility, clinical severity, and thyroid function in differentiated thyroid cancer (DTC).MethodsA total of 300 DTC patients and 252 healthy controls were enrolled in this study. Seven RET tagging single nucleotide polymorphisms were genotyped using the KASPar platform.ResultsSubgroup analysis showed that concomitant thyroid benign diseases were less likely to occur in DTC subjects with the rs1799939 AG or AG plus AA genotypes (odds ratio (OR) = 1.93 and 1.88, P = 0.009 and 0.011, respectively). A rare haplotype, CGGATAA, was associated statistically with a reduced risk of DTC (OR = 0.18, P = 0.001). Concerning the aggressive features of DTC, higher level of N stage was more likely to occur in subjects carrying the wild-type genotypes at rs1800860 site (for dominant model: OR = 0.48, P = 0.008). Another rare haplotype, CAAGCGT, conferred increased risk for the occurrence of distant metastasis (OR = 7.57, P = 0.009). Notably, higher thyroid stimulating hormone levels and lower parathyroid hormone levels were found in patients with rs2075912, rs2565200, and rs2742240 heterozygotes and rare homozygotes; similar results were observed between PTH levels and rs1800858.ConclusionThis study provided useful information on RET variants that should be subjected to further study.

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RET 3′UTR polymorphisms and its protective role in Hirschsprung disease in Southeastern Chinese

Cited by 5 publications

References 15 publications

RET Variants and Haplotype Analysis in a Cohort of Czech Patients with Hirschsprung Disease

RET Variants and Haplotype Analysis in a Cohort of Czech Patients with Hirschsprung Disease

A common polymorphism in pre-miR-146a underlies Hirschsprung disease risk in Han Chinese

Associations between RET tagSNPs and their haplotypes and susceptibility, clinical severity, and thyroid function in patients with differentiated thyroid cancer

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