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Different incidences of epigenetic but not genetic abnormalities between Wilms tumors in Japanese and Caucasian children.

ABSTRACT: Epidemiological studies show that the incidence of Wilms tumor (WT) in East-Asian children is half of that in Caucasian children. Abnormalities of WT1, CTNNB1, WTX, and IGF2 were reported to be involved in Wilms tumorigenesis in Caucasians, although none of the studies simultaneously evaluated the four genes. WTX forms the ?-catenin degradation complex; however, the relationship between WTX abnormality and CTNNB1 mutation was uncertain in WTs. We examined abnormalities of the four genes in 114 Japanese with WTs to clarify the relationship between genetic and epigenetic factors and the incidence of WTs. We found that abnormalities of WTX and CTNNB1 were mutually exclusive, and that although CTNNB1 mutation was frequent in WTs with WT1 abnormality, but rare in WTs without, the incidences of WTX abnormality were similar between WTs with or without WT1 abnormality. These findings were consistent with those reported in Caucasian populations, and indicate multiple roles of WTX abnormality. Abnormalities of WT1, WTX and CTNNB1, and loss of IGF2 imprinting (LOI) were detected in 31.6%, 22.8%, 26.3%, and 21.1% of the 114 WTs, respectively. When we selected 101 sporadic WTs, the incidences of WT1, CTNNB1, or WTX abnormality were generally comparable between the two populations, whereas the incidence of IGF2 LOI was lower in Japanese than that of IGF2 LOI reported in Caucasians (P = 0.04). This is the first comprehensive study of the four genes, and the results supported the hypothesis that the lower incidence of IGF2 LOI contributes to the lower incidence of WTs in Japanese children.

SUBMITTER: Haruta M

PROVIDER: S-EPMC7685077 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature

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Different incidences of epigenetic but not genetic abnormalities between Wilms tumors in Japanese and Caucasian children.

Haruta Masayuki M Arai Yasuhito Y Watanabe Naoki N Fujiwara Yuiko Y Honda Shohei S Ohshima Junjiro J Kasai Fumio F Nakadate Hisaya H Horie Hiroshi H Okita Hajime H Hata Jun-Ichi J Fukuzawa Masahiro M Kaneko Yasuhiko Y

Cancer science 20120419 6

Epidemiological studies show that the incidence of Wilms tumor (WT) in East-Asian children is half of that in Caucasian children. Abnormalities of WT1, CTNNB1, WTX, and IGF2 were reported to be involved in Wilms tumorigenesis in Caucasians, although none of the studies simultaneously evaluated the four genes. WTX forms the β-catenin degradation complex; however, the relationship between WTX abnormality and CTNNB1 mutation was uncertain in WTs. We examined abnormalities of the four genes in 114 J ...[more]

PMID: 22409817

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Project description:Loss of imprinting (LOI) of the IGF2 gene (which encodes insulin-like growth factor II) is the most common genetic or epigenetic alteration in Wilms tumor; LOI involves aberrant activation of the normally repressed maternally inherited allele. We found previously that LOI of IGF2 occurs in approximately half of all Wilms tumors (i.e., those arising from lineage-committed nephrogenic progenitor cells). We investigated whether LOI of IGF2 is associated with relaxation of imprinting at loci other than IGF2 or with widespread alterations in DNA methylation. We stratified 59 Wilms tumor samples by IGF2 LOI status by use of hot-stop reverse transcription-polymerase chain reaction and/or methylation analysis of the differentially methylated region of the H19 gene and identified 31 samples with and 28 without LOI. We used quantitative allele-specific expression analysis to determine whether six other imprinted genes (i.e., H19, KCNQ1, LIT1, TSSC5, GRB10, and MEG3) had subtle LOI. No statistically significant difference in allele-specific expression between Wilms tumor with or without LOI was found for LIT1, TSSC5, GRB10, and MEG3. For the KCNQ1 gene there was a slight difference between the groups with (37.0%, 95% confidence interval [CI] = 31.8% to 42.2%) and without (27.7%, 95% CI = 21.8% to 33.5%) LOI (P = .02 for F test of group differences in a mixed-effects model). For H19, we also found a slight difference between the groups with (7.5%, 95% CI = 2.4% to 12.7%) and without (2.2%, 95% CI = -3.2% to 7.6%) LOI of IGF2 (P = .15 for F test). In 27 tumor samples, we also used a microarray technique to analyze methylation of 378 genes, 38 of which were suspected or confirmed imprinted genes. We found that statistically significant alterations in only the differentially methylated region of the H19 gene were associated with LOI of IGF2. Thus, epigenetic alterations in Wilms tumors are not widespread, supporting the gene and lineage specificity of LOI of IGF2.

Project description:Recently, many studies have indicated that humans make social evaluations from facial appearances instantaneously and automatically. Furthermore, such judgments play an important role in several social contexts. However, the mechanisms involved in the ability to form impressions from faces are still unknown, as is the extent to which these can be regarded as universal in perceiving impressions. In the current study, computer-generated Caucasian faces were used to assess the universality or cultural differences in impression formation among Japanese children and adults. This study hypothesized that impressions of trustworthiness and dominance may be more fundamental and universal, whereas the impression of competence may be more complex and culture-dependent. In Experiment 1a, 42 children aged 3–6 years were presented with 10 pairs of face images and asked which image in each pair was more trustworthy, dominant, or competent. Overall, it was found that as age increased, the rate of agreement of Japanese participants with the judgment of American participants, obtained in a previous study, increased. However, the agreement rate for competence was relatively low. Experiment 1b, conducted with 46 children, was a replication of Experiment 1a, and the results showed the same tendency. In Experiment 2, 45 Japanese adults made impression judgments on 19 pairs of face images identical to those used in Experiment 1b. The results suggested that while dominance was a dimension not easily influenced by developmental changes or culture, trustworthiness could be influenced by cultural differences in facial expression recognition. Therefore, different judgment criteria are used for children and adults. For competence, the agreement rate with Americans was relatively stable and low among the different age groups. This suggests that depending on the dimension of the trait, certain judgments are influenced by cultural context and, therefore, change criteria, while others are based on more universal criteria.

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Different incidences of epigenetic but not genetic abnormalities between Wilms tumors in Japanese and Caucasian children.

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Different incidences of epigenetic but not genetic abnormalities between Wilms tumors in Japanese and Caucasian children.

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