scholarly journals Genetic and Environmental Factors in Invasive Cervical Cancer: Design and Methods of a Classical Twin Study

2016 ◽  
Vol 20 (1) ◽  
pp. 10-18 ◽  
Author(s):  
Dorothy A. Machalek ◽  
John D. Wark ◽  
Sepehr N. Tabrizi ◽  
John L. Hopper ◽  
Minh Bui ◽  
...  
Keyword(s):  
Cervical Cancer ◽  
Environmental Factors ◽  
Twin Study ◽  
Cancer Genetics ◽  
Invasive Cervical Cancer ◽  
Hpv Infection ◽  
Twin Design ◽  
Pap Screening ◽  
History Of ◽  
Genetic And Environmental Factors

Background:Persistent high-risk human papillomavirus (HPV) infection is a necessary prerequisite for development of cervical cancer and its precursor lesion, high-grade squamous intraepithelial lesion (HSIL). However, HPV infection is not sufficient to drive this process, and genetic and environmental factors may also play a role.Methods/Design:The Cervical Cancer, Genetics and Environment Twin Study was established to investigate the environmental and genetic influences on variation in susceptibility to cervical pre-cancer in 25- to 69-year-old monozygotic (MZ) and dizygotic (DZ) twins recruited through the Australian Twin Registry. Reviews of Papanicolaou (Pap) screening histories were undertaken to identify individual women with a history of an abnormal Pap test. This was followed by detection of HPV in archival Pap smears of selected twin pairs to determine HPV persistence. Selected twin pairs also completed a detailed questionnaire on socio-demographic characteristics, sexual behavior, and HPV knowledge. In future analyses, under the assumptions of the classical twin design, case-wise concordance for persistent HPV infection and HSIL will be calculated for MZ and DZ twin pairs, and twin pairs (both MZ and DZ) who are discordant for the above outcomes will be used to assess the contributions of measured environmental risk factors.Discussion:The study examines factors related to HPV persistence and development of HSIL among female MZ and DZ twins. The results will contribute to our understanding of the natural history of cervical HPV infection and the relative contributions of genetic and environmental factors in disease progression.

The Roles of Genetic and Environmental Factors on Risk of Cervical Cancer: A Review of Classical Twin Studies

2012 ◽  
Vol 15 (1) ◽  
pp. 79-86 ◽  
Author(s):  
Elya E. Moore ◽  
John D. Wark ◽  
John L. Hopper ◽  
Bircan Erbas ◽  
Suzanne M. Garland ◽  
...  
Keyword(s):  
Cervical Cancer ◽  
Environmental Factors ◽  
Cancer Susceptibility ◽  
Hpv Infection ◽  
Controlled Vocabulary ◽  
Future Research ◽  
Publication Date ◽  
Free Text ◽  
Twin Design ◽  
Mesh Terms

Cervical cancer is the third most common cancer in women worldwide. Persistent infection with an oncogenic human papillomavirus (HPV) is necessary, but not sufficient, for its development. Over many years, only a small proportion of women with chronic HPV infection progress to develop disease. The role of host genes and environmental factors in the pathogenesis of, or predisposition to, cervical cancer is still unclear. We conducted a systematic review of published literature in MEDLINE–PubMed to identify studies of cervical cancer susceptibility that used a twin study design. We used standard MeSH terms (controlled vocabulary) as well as specific free-text terms and combinations of terms related to cervical cancer, with no restriction on publication date. We performed a full text review to ensure the identified articles met our inclusion criteria and, if so, extracted information on demographics, sample size, study definitions, and key statistical findings. Of the 285 articles identified, three utilized a classical twin design and reported results specific to cervical cancer. The studies were based on cancer registry data from Scandinavia, with sample sizes ranging from 312 to 710 twin pairs. The findings from one study were consistent with a genetic mechanism for the causation of carcinoma in situ. Future research studies using the strength of the classic twin design, together with incorporation of HPV DNA status, are indicated to determine whether there is a potential role for genetic factors in the development of cervical cancer or high-grade cervical dysplasia from chronic oncogenic HPV infection.

The Association Between Chronic Disease and Psychological Distress: An Australian Twin Study

2020 ◽  
Vol 23 (6) ◽  
pp. 322-329
Author(s):  
Jessica Tyler ◽  
Janine Lam ◽  
Katrina Scurrah ◽  
Gillian Dite
Keyword(s):  
Psychological Distress ◽  
Chronic Disease ◽  
Environmental Factors ◽  
Twin Study ◽  
Disease Status ◽  
Adult Health ◽  
Linear Regression Models ◽  
Cross Sectional ◽  
Genetic And Environmental Factors ◽  
Distress Scale

AbstractThere is a commonly observed association between chronic disease and psychological distress, but many potential factors could confound this association. This study investigated the association using a powerful twin study design that can control for unmeasured confounders that are shared between twins, including genetic and environmental factors. We used twin-paired cross-sectional data from the Adult Health and Lifestyle Questionnaire collected by Twins Research Australia from 2014 to 2017. Linear regression models fitted using maximum likelihood estimations (MLE) were used to test the association between self-reported chronic disease status and psychological distress, measured by the Kessler Psychological Distress Scale (K6). When comparing between twin pairs, having any chronic disease was associated with a 1.29 increase in K6 (95% CI: 0.91, 1.66; p < .001). When comparing twins within a pair, having any chronic disease was associated with a 0.36 increase in K6 (95% CI: 0.002, 0.71; p = .049). This within-pair estimate is of most interest as comparing twins within a pair naturally controls for shared factors such as genes, age and shared lived experiences. Whereas the between-pair estimate does not. The weaker effect found within pairs tells us that genetic and environmental factors shared between twins confounds the relationship between chronic disease and psychological distress. This suggests that associations found in unrelated samples may show exaggerated estimates.

Exploring the association between genetic and environmental factors and molar incisor hypomineralization: evidence from a twin study

2017 ◽  
Vol 28 (2) ◽  
pp. 198-206 ◽  
Author(s):  
Rafael José Pio Barbosa Teixeira ◽  
Natália Silva Andrade ◽  
Lisanca Carvalho Cavalcante Queiroz ◽  
Fausto Medeiros Mendes ◽  
Marcoeli Silva Moura ◽  
...  
Keyword(s):  
Environmental Factors ◽  
Twin Study ◽  
Molar Incisor Hypomineralization ◽  
Genetic And Environmental Factors

scholarly journals Genetic and Environmental Influences on Smoking Behavior across Adolescence and Young Adulthood in the Virginia Twin Study of Adolescent Behavioral Development and the Transitions to Substance Abuse Follow-Up

2015 ◽  
Vol 18 (1) ◽  
pp. 43-51 ◽  
Author(s):  
Elizabeth K. Do ◽  
Elizabeth C. Prom-Wormley ◽  
Lindon J. Eaves ◽  
Judy L. Silberg ◽  
Donna R. Miles ◽  
...  
Keyword(s):  
Environmental Factors ◽  
Young Adulthood ◽  
Twin Study ◽  
Smoking Behavior ◽  
Smoking Initiation ◽  
Study Results ◽  
Adolescence And Young Adulthood ◽  
Genetic And Environmental Factors ◽  
The Relationship

Little is known regarding the underlying relationship between smoking initiation and current quantity smoked during adolescence into young adulthood. It is possible that the influences of genetic and environmental factors on this relationship vary across sex and age. To investigate this further, the current study applied a common causal contingency model to data from a Virginia-based twin study to determine: (1) if the same genetic and environmental factors are contributing to smoking initiation and current quantity smoked; (2) whether the magnitude of genetic and environmental factor contributions are the same across adolescence and young adulthood; and (3) if qualitative and quantitative differences in the sources of variance between males and females exist. Study results found no qualitative or quantitative sex differences in the relationship between smoking initiation and current quantity smoked, though relative contributions of genetic and environmental factors changed across adolescence and young adulthood. More specifically, smoking initiation and current quantity smoked remain separate constructs until young adulthood, when liabilities are correlated. Smoking initiation is explained by genetic, shared, and unique environmental factors in early adolescence and by genetic and unique environmental factors in young adulthood; while current quantity smoked is explained by shared environmental and unique environmental factors until young adulthood, when genetic and unique environmental factors play a larger role.

scholarly journals Corneal fluorescence in relation to genetic and environmental factors: a twin study

2003 ◽  
Vol 81 (5) ◽  
pp. 508-513 ◽  
Author(s):  
Line Kessel ◽  
Jesper Leth Hougaard ◽  
Kirsten Ohm Kyvik ◽  
Birgit Sander ◽  
Thorkild I. A. Sørensen ◽  
...  
Keyword(s):  
Environmental Factors ◽  
Twin Study ◽  
Genetic And Environmental Factors

Deregulation of miR-21 and miR-29a in Cervical Cancer Related to HPV Infection

MicroRNA ◽  
2019 ◽  
Vol 8 (2) ◽  
pp. 110-115 ◽  
Author(s):  
Sara Zamani ◽  
Amir Sohrabi ◽  
Seyed Masoud Hosseini ◽  
Marjan Rahnamaye-Farzami ◽  
Abolfazl Akbari
Keyword(s):  
Cervical Cancer ◽  
Cancer Progression ◽  
Expression Patterns ◽  
Invasive Cervical Cancer ◽  
Hpv Infection ◽  
Micro Rna ◽  
Internal Reference ◽  
Specific Primers ◽  
Papilloma Virus

Background:Early diagnosis is an important factor to improve the survival of Invasive Cervical Cancer (ICC) patients. Molecular biomarkers such as micro RNA (miRNA) can be used in the early detection of ICC. The expression of miR-21 and miR-29a are deregulated in many types of human cancers.Objective:The aim of this study was to investigate the differences in miR-21 and miR-29a expression patterns in the Human Papilloma Virus (HPV) infection and various grades of cervical cancer among Iranian women.Methods:Small RNAs were extracted from positive for HPV, cervical cancer and healthy samples from 43, 50 and 46 individuals, respectively. Expression levels of miR-21 and miR-29a were analyzed by SYBR Green real-time RT-PCR using specific primers, and 5s rRNA as the internal reference gene.Results:Results have shown a significant increase in miR-21 and decrease in miR-29 in cancerous samples in comparison with the control groups (P < 0.0001).Conclusion:This study illustrated that miR-21 and miR-29a could be operated as an oncogene and tumor-suppressor in cervical cancer progression. More studies are needed to demonstrate the role of miR-21 and miR-29a as potential biomarkers for the diagnosis of cervical cancer in future investigations.

Human papillomavirus, coinfection with Schistosoma hematobium, and cervical neoplasia in rural Tanzania

2003 ◽  
Vol 13 (4) ◽  
pp. 505-509 ◽  
Author(s):  
K. U. Petry ◽  
U. Scholz ◽  
B. Hollwitz ◽  
R. Von Wasielewski ◽  
C. J.L.M. Meijer
Keyword(s):  
Cervical Cancer ◽  
Human Papillomavirus ◽  
Invasive Cervical Cancer ◽  
Clinical History ◽  
Hpv Infection ◽  
Separate Analysis ◽  
Hpv Dna ◽  
Rural Tanzania ◽  
Increased Risk ◽  
Local Immunosuppression

Cervical cancer is the most common malignant tumor among women in Tanzania and other countries in tropical Africa. Genital schistosomiasis has been proposed as a possible cofactor in the genesis of this malignant disease that might contribute to its high incidence in regions where bilharzias is endemic. One hundred nine Tanzanian patients from an area with endemic bilharzias who were transferred to a gynecologic out-patient clinic were age-matched with 109 German controls. In patients and controls, separate samples were taken for cytologic assessment and human papillomavirus (HPV) DNA detection using the Hybrid Capture 2 assay (HC2) and PCR (GP5+/6 +). Samples that tested positive for HPV DNA with general primers were re-tested with HPV type-specific primers. After application of 3% acetic acid, punch biopsies were taken from any cervical lesion. Patients were interviewed for recent symptoms or clinical history suggestive of bilharzias. Urine samples from all patients were examined for the presence of schistosoma hematobium ova. Additionally six Tanzanian patients with invasive cervical cancer were included for separate analysis. Patients and controls had an identical prevalence of HPV-DNA (21.5%) using HC2. Based on PCR results with general primers, the corresponding prevalence was 34.5% for Tanzanian cases and 26.9% for German controls. A history suggestive of bilharzias and/or active schistosomiasis were associated with a significantly increased risk for infection with high-risk HPV types. We conclude that infection with Schistosoma hematobium seems to favor persistent genital HPV infection either by traumatizing the genital epithelium and/or by local immunosuppression.

scholarly journals Human papillomavirus and human telomerase RNA component gene in cervical cancer progression

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Yang Liu ◽  
Pianping Fan ◽  
Yingying Yang ◽  
Changjun Xu ◽  
Yajuan Huang ◽  
...  
Keyword(s):  
Cervical Cancer ◽  
Human Papillomavirus ◽  
Cancer Progression ◽  
Invasive Cervical Cancer ◽  
Intraepithelial Neoplasia ◽  
Hpv Infection ◽  
Cancer Group ◽  
Potential Marker ◽  
Significant Difference ◽  
Human Telomerase

Abstract This study aimed to examine hTERC gene in different grades of cervical intraepithelial neoplasia (CIN) and cervical cancer, and the association between hTERC and high risk-human papillomavirus (HR-HPV) infection. Patients who underwent cervical cancer screening at the Second Affiliated Hospital of Kunming Medical University between October 2010 and December 2011 were enrolled. All patients underwent liquid-based cytology test and hybrid capture 2 (HC2) for HPV detection. hTERC was examined using fluorescence in situ hybridization (FISH). Cervical colposcopy biopsy was performed if any of the three results was positive. HC2, FISH, and pathology were compared. A total of 1200 women underwent screening, 150 patients underwent cervical biopsy: 32 in the normal group, 38 in the CIN1 group, 66 in the CIN2/3 group, and 14 in the invasive cervical cancer group. More patients had HR-HPV infection in the CIN2/3 group and ICC group compared with the CIN1 group. hTERC increased with increasing histological dysplasia. There was significant difference in hTERC positive rate between each of the three groups. More patients with hTERC gene amplification were observed in the positive HR-HPV group than in the HR-HPV negative group. In conclusion, hTERC is a potential marker for precancerous cervical cancer lesions. hTERC might be correlated with HR-HPV infection in cervical diseases.

scholarly journals Persistent High-Risk HPV Infection and Molecular Changes Related to the Development of Cervical Cancer

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Pablo Moreno-Acosta ◽  
Alfredo Romero-Rojas ◽  
Nicolas Vial ◽  
Antonio Huertas ◽  
Jinneth Acosta ◽  
...  
Keyword(s):  
Cervical Cancer ◽  
High Risk ◽  
Invasive Cervical Cancer ◽  
Transition Process ◽  
Hpv Infection ◽  
Low Grade ◽  
Preneoplastic Lesions ◽  
Hpv 16 ◽  
Molecular Changes ◽  
High Risk Hpv

This article is a preliminary investigational study that is aimed at giving hints about the interesting biomarkers involved in the transition process from low-grade cervix lesion to invasive cervical cancer. Our study focuses on the risk factors and tumour molecular changes in one patient. First in 1986, she was diagnosed a preinvasive cervix lesion. Then, 16 years later, she was diagnosed an invasive cervical cancer. The 2002 diagnosis was a squamous cell carcinoma of the cervix, stage IIIB (FIGO), whereas in 1986, she had been diagnosed a high-grade squamous intraepithelial cervical lesion. Retrospectively, the analysis of samples of preneoplastic lesions and invasive cervical cancer confirmed the histopathological diagnoses and detected the presence of HPV type and HPV-16 variants, as well as the overexpression of proteins such as hTERT, IGF1Rα, IGF1Rβ, CAIX, and GLUT1. Finally, the Arg72Pro polymorphism was detected in TP53. The role of high-risk HPV and HPV-16 variants and of hTERT, IGF1Rα, IGF1Rβ, CAIX, and GLUT1 variations seemed confirmed in the development and progression of cervical cancer. As a result, analyzing the molecular changes in one and same tumour that progresses from a low-grade cervix lesion to invasive cervical cancer could provide valuable information in order to improve detection, diagnosis, and treatment in the future.

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