Meta-analysis of the association of AhR Arg554Lys, AhRR Pro185Ala, and ARNT Val189Val polymorphisms and endometriosis risk in Asians

Zheng, Nengneng; Bi, Ya-ping; Zheng, Ying; Zheng, Ruoheng

doi:10.1007/s10815-015-0505-3

Cited by 6 publications

(6 citation statements)

References 41 publications

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“…The AHRR pathway is also linked to peroxisome proliferator-activated receptor alpha. Although similar results were obtained in an earlier meta-analysis (Zheng et al 2015), the small sample size means that these results must be interpreted with caution (Table I) In contrast, GSTP1 rs1695 polymorphism can reduce the risk of endometriosis as indicated in our results (OR 0.80; 95% CI 0.69-0.92). This result was not in line with the other meta-analysis performed to date (Chen et al 2013) since they find a lack of association with the endometriosis risk.…”

supporting

confidence: 89%

Polymorphisms and endometriosis: a systematic review and meta-analyses

Méar

Herr

Fauconnier

et al. 2019

Human Reproduction Update

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BACKGROUND Endometriosis is an estrogen-dependent gynecological disorder that affects at least 10% of women of reproductive age. It may lead to infertility and non-specific symptoms such as chronic pelvic pain. Endometriosis screening and diagnosis are difficult and time-consuming. Late diagnosis (with a delay ranging from 3.3 to 10.7 years) is a major problem and may contribute to disease progression and a worse response to treatment once initiated. Efficient screening tests might reduce this diagnostic delay. As endometriosis is presumed to be a complex disease with several genetic and non-genetic pathogenic factors, many researchers have sought to identify polymorphisms that predispose to this condition. OBJECTIVE AND RATIONALE We performed a systematic review and meta-analysis of the most regularly reported polymorphisms in order to identify those that might predispose to endometriosis and might thus be of value in screening. SEARCH METHODS The MEDLINE database was searched for English-language publications on DNA polymorphisms in endometriosis, with no date restriction. The PubTator text mining tool was used to extract gene names from the selected publications’ abstracts. We only selected polymorphisms reported by at least three studies, having applied strict inclusion and exclusion criteria to their control populations. No stratification based on ethnicity was performed. All steps were carried out according to PRISMA guidelines. OUTCOMES The initial selection of 395 publications cited 242 different genes. Sixty-two genes (corresponding to 265 different polymorphisms) were cited at least in three publications. After the application of our other selection criteria (an original case-control study of endometriosis, a reported association between endometriosis and at least one polymorphism, data on women of reproductive age and a diagnosis of endometriosis in the cases established by surgery and/or MRI and confirmed by histology), 28 polymorphisms were eligible for meta-analysis. Only five of the 28 polymorphisms were found to be significantly associated with endometriosis: interferon gamma (IFNG) (CA) repeat, glutathione S-transferase mu 1 (GSTM1) null genotype, glutathione S-transferase pi 1 (GSTP1) rs1695 and wingless-type MMTV integration site family member 4 (WNT4) rs16826658 and rs2235529. Six others showed a significant trend towards an association: progesterone receptor (PGR) PROGINS, interCellular adhesion molecule 1 (ICAM1) rs1799969, aryl-hydrocarbon receptor repressor (AHRR) rs2292596, cytochrome family 17 subfamily A polypeptide 1 (CYP17A1) rs743572, CYP2C19 rs4244285 and peroxisome proliferator-activated receptor gamma (PPARG) rs1801282), and 12 showed a significant trend towards the lack of an association: tumor necrosis factor (TNF) rs1799964, interleukin 6 (IL6) rs1800796, transforming growth factor beta 1 (TGFB1) rs1800469, estrogen receptor 1 (ESR1) rs2234693, PGR rs10895068, FSH receptor (FSHR) rs6166, ICAM1 rs5498, CYP1A1 rs4646903, CYP19A1 rs10046, tumor protein 53 (TP53) rs1042522, X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1) rs25487 and serpin peptidase inhibitor clade E member 1 (SERPINE1) rs1799889; however, for the 18 polymorphisms identified in the latter two groups, further studies of the potential association with the endometriosis risk are needed. The remaining five of the 28 polymorphisms were not associated with endometriosis: glutathione S-transferase theta 1 (GSTT1) null genotype, vascular endothelial growth factor alpha (VEGFA) rs699947, rs833061, rs2010963 and rs3025039. WIDER IMPLICATIONS By carefully taking account of how the control populations were defined, we identified polymorphisms that might be candidates for use in endometriosis screening and polymorphisms not associated with endometriosis. This might constitute the first step towards identifying polymorphism combinations that predispose to endometriosis (IFNG (CA) repeat, GSTM1 null genotype, GSTP1 rs1695, WNT4 rs16826658 and WNT4 rs2235529) in a large cohort of patients with well-defined inclusion criteria. In turn, these results might improve the diagnosis of endometriosis in primary care. Lastly, our present findings may enable a better understanding of endometriosis and improve the management of patients with this disease.

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supporting

confidence: 89%

Polymorphisms and endometriosis: a systematic review and meta-analyses

Méar

Herr

Fauconnier

et al. 2019

Human Reproduction Update

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“…10 The c.565C>G polymorphism has resulted in exchange of proline (Pro) 185 to alanine (Ala) 185 amino acid. 25 The association of Pro185Ala with a variety of diseases including rheumatoid arthritis, 26 germ cell cancer, 18 oral cancer, 27 endometriosis, 28-30 micropenis 4 has been reported previously. The AhRR-c.565C>G polymorphism is significant and its main role is detoxifying carcinogens and poisons.…”

Section: Introductionmentioning

confidence: 79%

“…Much pollution, especially dioxins and dioxin like compounds, increases male infertility via the AhR signaling pathway . Several studies have been reported on the AhR signaling pathway and the c.565C>G transversion polymorphism of AhRR is supported by the studies of Watanabe et al, Hung et al, and Zheng et al, in which they explained the destructive effects of increasing ligands of the AhR pathway include TCDD products. The AhRR protein has been offered including several tumor suppressor genes .…”

Section: Discussionmentioning

confidence: 94%

Association of the human aryl hydrocarbon receptor repressor (AhRR)‐c.565C>G transversion with male infertility: A case‐control study from Iran

Mohammad‐Hasani

Colagar

Fallah

2018

J of Cellular Biochemistry

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Dioxins (eg, 2,3,7,8-tetrachlorodibenzo-p-dioxin/TCDD), as environmental endocrine disruptors and toxic carcinogens, can affect male reproductive health. The influence of dioxins is mediated via the aryl hydrocarbon receptor (AhR) pathway and its repressor (AhRR). In this study, we investigated the association of AhRR-c.565C>Gtransversion polymorphism with male infertility. In a hospital-based case-control study, 221 semen samples (111 infertile and 110 healthy controls) based on World Health Organization guidelines were collected from in vitro fertilization centers of Babol, Iran. The AhRR-c.565C>G (rs2292596) polymorphism was genotyped using a polymerase chain reaction-restriction fragment length polymorphism analysis. The difference in the allele frequency of AhRR-c.565C>G transversion polymorphism did not reach a significant level. The genotype frequency was statistically significantly different between fertile and infertile men. We found that polymorphism rs2292596

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“…Numerous studies have investigated the association between AhR -related gene polymorphisms and reproductive system diseases, such as endometriosis or infertility (24–27), because these diseases are regarded as complex traits in which genetic and environmental factors contribute to the disease phenotype (28). Various studies on AhR -related gene polymorphisms, as explored by a recent meta-analysis on endometriosis risk in Asian populations (27), have considered AhR Arg554Lys and AhR nuclear translocator ( ARNT) Val189Val as potential candidates (24–27).…”

Section: Introductionmentioning

confidence: 99%

“…Various studies on AhR -related gene polymorphisms, as explored by a recent meta-analysis on endometriosis risk in Asian populations (27), have considered AhR Arg554Lys and AhR nuclear translocator ( ARNT) Val189Val as potential candidates (24–27). Although it may be hypothesized that these two polymorphisms contribute to the ASD phenotype by modulating vulnerability to the environmental chemicals, little evidence is available on the relationship between ASD and AhR -related gene polymorphisms in humans, with the exception of the investigation on ARNT2 polymorphisms (29).…”

Section: Introductionmentioning

confidence: 99%

Association of Aryl Hydrocarbon Receptor-Related Gene Variants with the Severity of Autism Spectrum Disorders

et al. 2016

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Exposure to environmental chemicals, such as dioxin, is known to have adverse effects on the homeostasis of gonadal steroids, thereby potentially altering the sexual differentiation of the brain to express autistic traits. Dioxin-like chemicals act on the aryl hydrocarbon receptor (AhR), polymorphisms, and mutations of AhR-related gene may exert pathological influences on sexual differentiation of the brain, causing autistic traits. To ascertain the relationship between AhR-related gene polymorphisms and autism susceptibility, we identified genotypes of them in patients and controls and determined whether there are different gene and genotype distributions between both groups. In addition, to clarify the relationships between the polymorphisms and the severity of autism, we compared the two genotypes of AhR-related genes (rs2066853, rs2228099) with the severity of autistic symptoms. Although no statistically significant difference was found between autism spectrum disorder (ASD) patients and control individuals for the genotypic distribution of any of the polymorphisms studied herein, a significant difference in the total score of severity was observed in rs2228099 polymorphism, suggesting that the polymorphism modifies the severity of ASD symptoms but not ASD susceptibility. Moreover, we found that a significant difference in the social communication score of severity was observed. These results suggest that the rs2228099 polymorphism is possibly associated with the severity of social communication impairment among the diverse ASD symptoms.

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Meta-analysis of the association of AhR Arg554Lys, AhRR Pro185Ala, and ARNT Val189Val polymorphisms and endometriosis risk in Asians

Cited by 6 publications

References 41 publications

Polymorphisms and endometriosis: a systematic review and meta-analyses

Polymorphisms and endometriosis: a systematic review and meta-analyses

Association of the human aryl hydrocarbon receptor repressor (AhRR)‐c.565C>G transversion with male infertility: A case‐control study from Iran

Association of Aryl Hydrocarbon Receptor-Related Gene Variants with the Severity of Autism Spectrum Disorders

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