Association of GSTM1 and GSTT1 deletion polymorphisms with Pakistani aplastic anemia patients and controls and meta-analysis

Rehman, Sadia; Ahmed, Parvez; Saba, Nusrat; Munir, Saeeda; Sajjad, Sumaira; Satti, Tariq Mahmood; Chaudary, Qamar-un-Nisa; Mansoor, Atika

doi:10.1007/s00277-015-2482-0

Cited by 7 publications

(6 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In the present study, we evaluated the association of GSTT1 genotypes with breast cancer-related parameters. We report a GSTT1 -absent frequency of 11% in the controls, which is in agreement with couple of earlier studies published from the region, one from Islamabad [33], and the other from Karachi [18]. In this study, we report a significant association of GSTT1 -absent genotype with increased breast cancer risk in a representative sample from Pakistani population.…”

Section: Discussionsupporting

confidence: 92%

Absence of Glutathione S-Transferase Theta 1 Gene is Significantly Associated with Breast Cancer Susceptibility in Pakistani Population and Poor Overall Survival in Breast Cancer Patients: A Case-Control and Case Series Analysis

Ajaz

Zaidi

Ali

et al. 2021

Preprint

View full text Add to dashboard Cite

Deletion of Glutathione S-Transferase Theta 1 (GSTT1) encoding gene is implicated in breast cancer susceptibility, clinical outcomes, and survival. Contradictory results have been Zeported in different studies. The present investigation evaluated GSTT1-absent genotype for its contribution to breast cancer risk in Pakistani population and specific clinical outcomes in breast tumours. A prospective study comprising case-control analysis and case series analysis components was designed. Peripheral blood samples were collected from enrolled participants. After DNA extraction, GSTT1 genotyping was carried out by a multiplex PCR with β-globin as an amplification control. Association evaluation of GSTT1 genotypes with breast cancer risk, specific tumour characteristics, and survival was the primary endpoint. A total of 264 participants were enrolled in the molecular investigation (3 institutions). The study included 121 primary breast cancer patients as cases and 143 age- matched female subject, with no history of any cancer, as controls. A significant genetic association between GSTT1-absent genotype and breast cancer susceptibility (p-value: 0.003; OR: 2.13; 95% CI: 1.08-4.29) is reported. The case-series analysis showed lack of association of GSTT1 genotypes with tumour stage (p-value: 0.12), grade (p-value: 0.32), and size (p-value: 0.07). The survival analysis revealed that GSTT1-absent genotype cases had a statistically significant shorter overall survival (OS) than those with GSTT1-present genotype cases (mean OS: 23 months vs 33 months). The HR (95% CI) for OS in patients carrying GSTT1-absent genotype was 8.13 (2.91-22.96) when compared with GSTT1-present genotype. The present study is the first report of an independent, population-oriented significant genetic association between GSTT1-absent genotype and breast cancer susceptibility as well as OS in breast cancer cases. Upon further validation, GSTT1 variation may serve as a marker for devising better and population-specific strategies for screening and treatment in breast cancer management.

show abstract

Section: Discussionsupporting

confidence: 92%

Absence of Glutathione S-Transferase Theta 1 Gene is Significantly Associated with Breast Cancer Susceptibility in Pakistani Population and Poor Overall Survival in Breast Cancer Patients: A Case-Control and Case Series Analysis

Ajaz

Zaidi

Ali

et al. 2021

Preprint

View full text Add to dashboard Cite

show abstract

“…Most data regarding the epidemiology of AA is derived from western literature [6][7][8][9][10] with only few published studies from the developing world [2,[11][12][13][14][15][16]. As noted above, marked geographic variation exist with higher prevalence in Asia [2,11] and Africa [3] as compared to Europe and the United States (US) [2,17].…”

Section: Epidemiology and Pathogenesismentioning

confidence: 99%

Special issues related to the diagnosis and management of acquired aplastic anemia in countries with restricted resources, a report on behalf of the Eastern Mediterranean blood and marrow transplantation (EMBMT) group and severe aplastic anemia working party of the European Society for blood and marrow transplantation (SAAWP of EBMT)

Iftikhar¹,

Ahmad

Latour

et al. 2021

Bone Marrow Transplant

View full text Add to dashboard Cite

Aplastic anemia is a relatively rare but potentially fatal disorder, with a reported higher incidence in developing countries in comparison to the West. There are significant variations in epidemiological as well as etiological factors of bone marrow failure syndromes in the developing countries in comparison to the developed world. Furthermore, the management of bone marrow failure syndromes in resource constraint settings has significant challenges including delayed diagnosis and referral, limited accessibility to healthcare facilities, treatment modalities as well as limitations related to patients who require allogeneic stem cell transplantation. Here we will provide a review of the available evidence related to specific issues of aplastic anemia in the developing countries and we summarize suggested recommendations from the Eastern Mediterranean blood and bone marrow transplantation (EMBMT) group and the severe aplastic anemia working party of the European Society of blood and marrow transplantation (SAAWP of EBMT) related to the diagnosis and therapeutic options in countries with restricted resources.

show abstract

“…Other smaller studies on some of these patients have revealed genetic predispositions for AA in FAS/FASL system, GSTM1 and GSTT1 and different HLA alleles [32][33][34]. Similarly, low fraction of PNH positivity may also point toward underlying non-immune mechanisms in the disease pathogenesis.…”

Section: Consanguinity and Genetic Factorsmentioning

confidence: 88%

Epidemiology of aplastic anemia: a study of 1324 cases

et al. 2020

Self Cite

View full text Add to dashboard Cite

Objective: Prevalence of aplastic anemia (AA) is high in the Asian population. This study was done to explore the etiology and association of AA with various socioeconomic and environmental factors. Study design and setting: Study included 1324 consecutive AA cases registered at Armed Forces Bone Marrow Transplant Centre Rawalpindi, Pakistan, from March 2001 to August 2016. The study questionnaire was completed through an interview. It included patients' socio-demographic details, personal and family medical history, environmental attributes and clinico-hematological features. Results: The median age of patients was 20 years, 997 were male and 327 female. Distribution of non-severe, severe and very severe AA was 230 (17.4%); 598 (45.2%) and 496 (37.4%), respectively. The majority of patients were from low (n = 761, 57.5%) or middle socioeconomic class (n = 543, 41%). Consanguinity among patients (n = 806, 61%) was slightly higher than the national statistics. History of chemical exposures included fertilizers (n = 116, 8.7%), pesticides (n = 56, 4.2%) and industrial chemicals (n = 37, 2.8%). PNH clone was found in 63 of AA patients. After excluding 298 patients undergoing HSCT and 660 deaths/lost to follow-up, disease evolution was observed in 38(10.4%) patients out of 366 evaluable patients. These included PNH = 18, MDS = 11 and AML = 9. Discussion: Due to lack of funding and adequate human resource at the center, age and sexmatched controls could not be included. Other limitations were a lack of molecular testing to exclude the possibility of inherited bone marrow failure syndromes on a genetic basis. Conclusion: Younger age, male predominance and higher consanguinity point toward genetic factors in AA etiology among the South Asian population.

show abstract

Association of GSTM1 and GSTT1 deletion polymorphisms with Pakistani aplastic anemia patients and controls and meta-analysis

Cited by 7 publications

References 19 publications

Absence of Glutathione S-Transferase Theta 1 Gene is Significantly Associated with Breast Cancer Susceptibility in Pakistani Population and Poor Overall Survival in Breast Cancer Patients: A Case-Control and Case Series Analysis

Absence of Glutathione S-Transferase Theta 1 Gene is Significantly Associated with Breast Cancer Susceptibility in Pakistani Population and Poor Overall Survival in Breast Cancer Patients: A Case-Control and Case Series Analysis

Epidemiology of aplastic anemia: a study of 1324 cases

Contact Info

Product

Resources

About