TP53 Arg72Pro polymorphism (rs1042522) and risk of endometriosis among Asian and Caucasian populations

Li, J.; Chen, Y.; Mo, Zengnan; Li, L.

doi:10.1016/j.ejogrb.2015.03.026

Cited by 9 publications

(6 citation statements)

References 41 publications

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“…In Japan, Singapore and Thailand, the relatively low proportion of serous tumors was compensated by higher rates of endometrioid, clear cell and mucinous carcinomas. The consistent increase in the proportion of clear cell carcinomas across all three Asian countries and the increased proportion of endometrioid carcinomas in Thailand and Japan relative to the international distribution of these subtypes may be partially explained by the slightly higher prevalence of endometriosis among women of Asian ethnicity, possibly resulting from genetic and/or environmental risk factors, as endometriosis is an established risk factor for both clear cell and endometrioid carcinomas . Furthermore, the importance of endometriosis as a risk factor for both clear cell and endometrioid carcinomas may also shed light on the age‐specific incidence of these histologic subtypes, in which the rates of both subtypes plateau around the age of menopause.…”

Section: Discussionmentioning

confidence: 99%

International patterns and trends in ovarian cancer incidence, overall and by histologic subtype

et al. 2017

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Internationally, ovarian cancer is the 7th leading cancer diagnosis and 8th leading cause of cancer mortality among women. Ovarian cancer incidence varies by region, particularly when comparing high versus low income countries. Temporal changes in reproductive factors coupled with shifts in diagnostic criteria may have influenced incidence trends of ovarian cancer and relative rates by histologic subtype. Accordingly, we evaluated trends in ovarian cancer incidence overall (1973–1977 to 2003–2007) and by histologic subtype (1988–1992 to 2003–2007) using volumes IV-IX of the Cancer Incidence in Five Continents database (CI5plus) and CI5X (volume X) database. Annual percent changes were calculated for ovarian cancer incidence trends, and rates of histologic subtypes for individual countries were compared to overall international incidence. Ovarian cancer incidence rates were stable across regions, although there were notable increases in Eastern/Southern Europe (e.g. Poland: Annual Percent Change (APC) 1.6%, p=0.02) and Asia (e.g. Japan: APC 1.7%, p=0.01) and decreases in Northern Europe (e.g. Denmark: APC −0.7%, p=0.01) and North America (e.g. US Whites: APC −0.9%, p<0.01). Relative proportions of histologic subtypes were similar across countries, except for Asian nations, where clear cell and endometrioid carcinomas comprised a higher proportion of the rate and serous carcinomas comprised a lower proportion of the rate than the worldwide distribution. Geographic variation in temporal trends of ovarian cancer incidence and differences in the distribution of histologic subtype may be partially explained by reproductive and genetic factors. Thus, histology-specific ovarian cancer should continue to be monitored to further understand the etiology of this neoplasm.

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Section: Discussionmentioning

confidence: 99%

International patterns and trends in ovarian cancer incidence, overall and by histologic subtype

et al. 2017

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“…The C allele of p53 codon 72 may be associated with the development of endometriosis, and can also be utilized as a potential predictive biomarker (52). One of its polymorphisms, TP53 Arg72Pro has been associated with various diseases, including endometriosis; in particular, the rs1042522 polymorphism has been linked with the risk of endometriosis in an Asian populations (53). In a prospective study of 118 patients, the results revealed that p53 arginine homozygotes had a decreased risk of the disease, while heterozygotes and proline homozygotes demonstrated an increased risk (54).…”

Section: Genetic Association Studiesmentioning

confidence: 99%

Defining the genetic profile of endometriosis (Review)

et al. 2019

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Endometriosis is a pathological condition which has been extensively studied, since its pathophysiology stems from a broad spectrum of environmental influences and genetic factors. Familial studies aim at defining inheritance trends, while linkage analysis studies focus on the identification of genetic sites related to endometriosis susceptibility. Genetic association studies take into account candidate genes and single nucleotide polymorphisms, and hence target at unraveling the association between disease severity and genetic variation. The common goal of various types of studies is, through genetic mapping methods, the timely identification of therapeutic strategies for disease symptoms, including pelvic pain and infertility, as well as efficient counselling. While genome-wide association studies (GWAS) play a primary role in depicting genetic contributions to disease development, they entail a certain bias as regards the case-control nature of their design and the reproducibility of the results. Nevertheless, genetic-oriented studies and the implementation of the results through clinical tests, hold a considerable advantage in proper disease management. In this review article, we present information about gene-gene and gene-environment interactions involved in endometriosis and discuss the effectiveness of GWAS in identitying novel potential therapeutic targets in an attempt to develop novel therapeutic strategies for a better management and treatment of patients with endometriosis.

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“…Although a number of previous studies have shown an association between the R72 variant and disorders such as endometriosis (Li et al, 2015), squamous cell carcinoma (Brooks et al, 2000), and lung cancer (Papadakis et al, 2002), among others, the functional effect of this variant remains uncertain and may be cell type-specific. To this end, we performed functional assays to better elucidate the downstream effects of the arginine versus proline residues associated with the rs1042522 polymorphism.…”

Section: Resultsmentioning

confidence: 99%

Role of a p53 polymorphism in the development of nonfunctional pituitary adenomas

Yagnik

Jahangiri

Chen

et al. 2017

Molecular and Cellular Endocrinology

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Non-functional pituitary adenomas (NFPAs) are among the commonest intracranial neoplasms. While histologically benign, NFPAs sometimes become large enough to limit therapeutic options and reduce quality of life. Investigations of the molecular etiology of NFPAs have failed to identify prevalent genetic changes and, while a role for p53 has been suggested, TP53 gene alterations have yet to be described in NFPAs. We found that the polymorphism rs1042522:C > G in codon 72 of exon 4 of the TP53 gene, whose C variant produces a proline and is more common in most ethnicities, has a G variant producing an arginine in 79.8% of NFPAs (n = 42; p < 1.411 × 10−18 vs. 1000 Genomes database), causing patients to present a decade earlier with symptomatic NFPAs. In cultured NFPA cells, transfection with the rs1042522 G variant versus the C variant reduced expression of cell arrest gene p21 and increased proliferation. These findings suggest that this TP53 polymorphism influences NFPA growth.

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TP53 Arg72Pro polymorphism (rs1042522) and risk of endometriosis among Asian and Caucasian populations

Cited by 9 publications

References 41 publications

International patterns and trends in ovarian cancer incidence, overall and by histologic subtype

International patterns and trends in ovarian cancer incidence, overall and by histologic subtype

Defining the genetic profile of endometriosis (Review)

Role of a p53 polymorphism in the development of nonfunctional pituitary adenomas

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