Association of the interferon-γ gene (CA)n repeat polymorphism with endometriosis

Kim, Jj J.; Choi, Yu Hyeon; Hwang, Ss S.; Yoon, Sh H.; Lee, Gh H.; Chae, Suchan; Hwang, Kr R.; Moon, Sy

doi:10.1111/j.1471-0528.2011.02963.x

Cited by 6 publications

(4 citation statements)

References 35 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In support of polymorphism studies in Japanese patients with endometriosis [20], Kim et al suggested the (CA) n repeat polymorphism in the IFN-γ gene may be associated with a risk of endometriosis in the South Korean population. They have reported the most common allele composed of 13 repeats, followed by an allele of 15 repeats, and then by an allele of 12 repeats [21]. In contrast to these studies, our group previously demonstrated the increase in the "a12 (112bp) allele" in south Indian patients along with the significant association of IFNG gene CA-repeat polymorphism with endometriosis [22].…”

Section: Introductioncontrasting

confidence: 64%

Prevalence and Polymorphism in Interferon-γ Gene (CA) Repeats with Different Stages of Endometriosis

Helal¹,

Bhanothu²,

Rozati³

et al. 2013

AJMBR

View full text Add to dashboard Cite

Background Endometriosis is a female physical disorder that happens when cells from the lining of the womb (uterus) grow in other areas of the body i.e., outside of uterine cavity and leads to infertility. It represents a major personal and public health concern. The aim of the study was to investigate the prevalence and interferon-gamma gene CA-repeats polymorphism in patients with different stages of endometriosis. Methodology/Principal Findings It is a case control prevalence study carried out in gynecology research centre. The mutational analysis of Interferonγ gene CA repeats were tested for association in 356 affected women with different stages of disease and 372 women with no evidence of disease. The prevalence of endometriosis was accounted in 44.95% of infertile women. All the women were of South Indian origin and ascertained from the same infertility clinic. The broad IFN-gamma genotype and allele frequencies in all patients with different stages of endometriosis varied significantly from that in the control women (χ 2 = 8.2690, 4 df, P =0.0822). The disparity in distribution was due to an increase in the a13 (114 bp) allele in the patients with endometriosis (χ 2 =13.2394, p= 0.00027, OR=1.6656, 95.0% CI=1.263-2.1953). Conclusions/Significance Significant difference was experiential in universal allele frequencies between the control women and specifically, women with endometriosis staging were tilted in the direction of minimal (39.04%) and mild disease (33.98%). Therefore, we conclude that interferon-gamma CA-repeat polymorphism may influence the likelihood of a woman developing different stages of endometriosis irrespective of its incidence.

show abstract

Section: Introductioncontrasting

confidence: 64%

Prevalence and Polymorphism in Interferon-γ Gene (CA) Repeats with Different Stages of Endometriosis

Helal¹,

Bhanothu²,

Rozati³

et al. 2013

AJMBR

View full text Add to dashboard Cite

show abstract

“…Of the four studies analysed for interferon gamma (IFNG), three were CAT1 studies (Kim et al 2011;Kitawaki et al 2004;Rozati, Vanaja, and Nasaruddin 2010). After inspecting, we decided to homogenize our analysis by using a CA dinucleotide repeat length of 13 as a cut-off for classifying alleles as being short (S: ≤13 repeats) or long (L: >13).…”

Section: Ifng _ (Ca) Repeat: Fig 3d and Supplementary Figs 8a And Bmentioning

confidence: 99%

Polymorphisms and endometriosis: a systematic review and meta-analyses

Méar

Herr

Fauconnier

et al. 2019

Human Reproduction Update

View full text Add to dashboard Cite

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.

show abstract

“…Th1 imbalance has also been described in endometriosis, similarly to CD and Hepatitis B vaccine non response [10]. It has been demonstrated that polymorphisms in the IFN-γ gene may be linked to the risk of endometriosis [11]. What is more, it has been shown that IL-18 may be a key cytokine in developing the pathogenesis of endometriosis and that polymorphisms in the IL-18 gene have been positively related to the risk of developing endometriosis or the stage of endometriosis [12].…”

mentioning

confidence: 97%

Celiac Disease, Hepatitis B Vaccine Nonresponse and Endometriosis: What is the Link?

Mormile¹

2013

J Vaccines Vaccin

View full text Add to dashboard Cite

Association of the interferon-γ gene (CA)n repeat polymorphism with endometriosis

Cited by 6 publications

References 35 publications

Prevalence and Polymorphism in Interferon-γ Gene (CA) Repeats with Different Stages of Endometriosis

Prevalence and Polymorphism in Interferon-γ Gene (CA) Repeats with Different Stages of Endometriosis

Polymorphisms and endometriosis: a systematic review and meta-analyses

Celiac Disease, Hepatitis B Vaccine Nonresponse and Endometriosis: What is the Link?

Contact Info

Product

Resources

About