Common variation of the CYP17 gene in Iraqi women with endometriosis disease

Al-Rubae'i, Salwa H.N.; Naji, Tamara Sami; Turki, Kismat M.

doi:10.1016/j.gdata.2016.11.019

Cited by 8 publications

(8 citation statements)

References 20 publications

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“…CYP17 (cytochrome P450c17a1) is a gene responsible for encoding the enzyme for estrogen biosynthesis. In a case control study of Iraqi women from 23 to 46 years of age, a significant association was noted between endometriosis and specific SNPs of the CYP17 gene, with homozygous genotypes being associated with a diminished disease risk (60). In a case-control study, patients homozygous for the CYP17A1 C allele of the rs743572 SNP were associated with a markedly increased risk of leiomyoma (61); in particular, the CYP17A1 rs743572 genetic variation can also act as a potential risk factor for endometriosis, according to published data (62).…”

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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Section: Genetic Association Studiesmentioning

confidence: 99%

Defining the genetic profile of endometriosis (Review)

et al. 2019

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“…Genetic markers belong to variable categories, such as: oxidative stress genes [86], tumor suppressor genes [87][88][89][90][91][92][93][94][95][96][97][98], oncogenes [90,[99][100][101][102][103], regulatory genes [104,105], DNA repair genes [93], chromosomal aberrations or amplifications [106][107][108], loss of heterozygosity [87,107,109], genetic polymorphism of variable genes [107,[110][111][112][113][114][115][116][117][118][119], and genome-wide alterations [120,121].…”

Section: Markers For Diagnosismentioning

confidence: 99%

Endometriosis — insights into a multifaceted entity

Amălinei

Păvăleanu

Lozneanu

et al. 2018

Folia Histochem Cytobiol.

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Firstly described at the end of nineteenth century, endometriosis remains an enigmatic disease, from etio-pathogenesis to specific markers of diagnosis and its ability to associate with malignancies. Our review has been designed from a historical perspective and steps up to an updated understanding of the disease, facilitated by relatively recent molecular and genetic progresses. Although the histopathological diagnosis is relatively simple, the therapy is difficult or ineffective. Experimental models have been extremely useful as they reproduce the human disease and allow the testing of different potential modulators or treatment options. Due to molecular resemblance to carcinogenesis, applications of anti-cancer agents are currently under scrutiny. The desired goal of an efficient therapy against symptomatic disease, along with associated infertility and malignancies, needs a deeper insight into the complex mechanisms involved in endometriosis initiation, development, and progres-sion. Current trends in genomic and proteomic approaches are useful for a more accurate classification and for the identification of new therapeutic targets.

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“…Mutations in CYP17A1 gene were correlated with hormone expression, and then contributed to the onset of endometriosis, breast, and prostate cancers. [ 23 ] CYP17 expression level is upregulated in patients with endometriosis than that in controls. [ 23 ] It has been considered that rs743572 SNP is related to the expression of CYP17; T allele might induce the upregulation of CYP17 in patients with prostate cancer.…”

Section: Discussionmentioning

confidence: 99%

“…[ 23 ] CYP17 expression level is upregulated in patients with endometriosis than that in controls. [ 23 ] It has been considered that rs743572 SNP is related to the expression of CYP17; T allele might induce the upregulation of CYP17 in patients with prostate cancer. [ 25 ] However, the effects of rs743572 on endometriosis were not clear.…”

Section: Discussionmentioning

confidence: 99%

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CYP17A1 rs743572 polymorphism might contribute to endometriosis susceptibility

Cong

Gao

2018

Medicine

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This case–control study was aimed to evaluate the influence of cytochrome P450 family 17 subfamily A member 1 (CYP17A1) gene rs743572 polymorphism for the susceptibility to endometriosis.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to genotype rs743572 polymorphism in 143 endometriosis patients and 148 healthy controls. Hardy–Weinberg equilibrium (HWE) test was utilized to detect the representativeness of the study subjects. Association strength was presented by odds ratios (ORs) with corresponding 95% confidence intervals (CIs).Genotype distribution of rs743572 polymorphism was conformed to HWE test both in case and control groups, revealing the good representativeness of our study subjects. Significantly positive association was discovered between rs743572 TT genotype and endometriosis susceptibility (P = .042, OR = 1.952, 95% CI = 1.020–3.736). Rs743572 T allele was more frequently discovered in cases than that in controls, revealing the enhanced susceptibility to endometriosis (P = .041, OR = 1.407, 95% CI = 1.014–1.951). Confounding factors (age and body mass index) were utilized to adjust the results, and then we found that the association strength had no significant changes (TT vs CC, P = .039, OR = 1.961, 95% CI = 1.023–3.742; T vs C, P = .038, OR = 1.413, 95% CI = 1.016–1.957). But we failed to find any obvious association of rs743572 genotypes with endometriosis stages and characteristics.T allele of rs743572 polymorphism might act as a risk factor for endometriosis, although it had no effects on the disease stages and basic features.

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Common variation of the CYP17 gene in Iraqi women with endometriosis disease

Cited by 8 publications

References 20 publications

Defining the genetic profile of endometriosis (Review)

Defining the genetic profile of endometriosis (Review)

Endometriosis — insights into a multifaceted entity

CYP17A1 rs743572 polymorphism might contribute to endometriosis susceptibility

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