Association of FCRL3 Genetic Polymorphisms With Endometriosis-Related Infertility Risk

Zhang, Haiyan; Zhang, Zhen; Li, Guang; Wang, Surong; Zhang, Shiqian; Xie, Beibei

doi:10.1097/md.0000000000001168

Cited by 14 publications

(9 citation statements)

References 45 publications

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“…To date, the genetic risk factors for endometriosis-related infertility have also included the ESR1 , ESR2 , and luteinizing hormone beta - subunit FOXP , complement component 3 , lysyl oxidase-like protein 4 , and FCRL3 genes [ 10 , 42 – 46 ]. Recently, it has been suggested that CYP17 , VDR , MUC17 , COX-2 , WNT4 , E-cadherin , CYP19 , CYP17 , TYK2 , NFKB1 , and MUC2 gene variants also contributed to endometriosis-related infertility [ 17 , 47 – 55 ].…”

Section: Discussionmentioning

confidence: 99%

Involvement of 17β-hydroxysteroid dehydrogenase type gene 1 937 A>G polymorphism in infertility in Polish Caucasian women with endometriosis

Osiński

Mostowska

Wirstlein

et al. 2017

J Assist Reprod Genet

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PurposeEndometriosis is considered to be an estrogen-related chronic inflammatory disease. The 17β-hydroxysteroid dehydrogenase 1 (HSD17B1) converts estrone to 17β estradiol. The role of HSD17B1 937 A>G (rs605059) single nucleotide polymorphism (SNP) in development of endometriosis is still disputable. This study evaluated the association of the HSD17B1 937 A>G (rs605059) SNP with infertile women affected by endometriosis from Polish Caucasian population.MethodsThe genotyping of cases (n = 290) and fertile women (n = 410) was conducted by high-resolution melting curve analysis.ResultsStatistical analysis demonstrated that the HSD17B1 937 A>G SNP is associated with endometriosis in stages I and II. The p trend and p allelic values calculated for the HSD17B1 937 A>G polymorphism were statistically significant and were equal to 0.001 and 0.0009, respectively. There was a significant association for the dominant model: (AG + GG vs AA) OR = 1.973 (95% CI = 1.178–3.304), p = 0.009, and for the recessive model: (GG vs AG + AA) OR = 1.806 (95% CI = 1.178–2.770), p = 0.006. However, we did not find statistical association of HSD17B1 937 A>G polymorphism with all infertile women with endometriosis or infertile women with endometriosis in stages III and IV.ConclusionOur genetic study demonstrated HSD17B1 937 G variant as a risk factor for infertility in women with stage I and II endometriosis in Polish Caucasian patients.Electronic supplementary materialThe online version of this article (doi:10.1007/s10815-017-0911-9) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

Involvement of 17β-hydroxysteroid dehydrogenase type gene 1 937 A>G polymorphism in infertility in Polish Caucasian women with endometriosis

Osiński

Mostowska

Wirstlein

et al. 2017

J Assist Reprod Genet

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“…FCRL3_3 is a polymorphism of Fc-receptor like-3 gene ( FCRL3 ), a gene that incites activation of NF-κβ/MAPK pathways. This variation has been associated with an increased disease risk of endometriosis-induced infertility, regardless of the symptoms and disease stage (123). Caspase recruitment domain family member ( CARD ) 10 and CARD11 mutations have been suggested to be linked with endometriosis.…”

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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“…For instance, evidence were provided regarding a significant increase in the prevalence of the AA genotype and A allele of rs7528684 in allergic rhinitis (12). In another study, approximately 1.4-fold found significantly raised frequency of the FCRL3_3 C allele (OR=1.41 [95% CI=1.08–1.84], P =0.013) in women with endometriosis-related infertility (16). Moreover, mutations of FCRL3_3, FCRL3_5, and 3_6 could increase the chances of Graves’ disease (13).…”

Section: Discussionmentioning

confidence: 97%

Single Nucleotide Polymorphisms of FCRL3 in Iranian Patients with Behcet’s Disease

Shahram¹,

Kazemi²,

Mahmoudi³

et al. 2020

ijph

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Background: Both genetic and environmental factors influence, susceptibility to autoimmune disorders including Behcet’s disease (BD). FCRL3 (Fc receptor like 3 genes), a novel immunoregulatory gene, has recently been reported as a new promising candidate gene for general autoimmunity. This study was conducted to explore the potential association of FCRL3 polymorphisms with BD. Methods: This study was conducted from 2010 to 2015 in Tehran University of Medical Sciences, Tehran, Iran. Four single-nucleotide polymorphisms of FCRL3 (rs7528684, rs11264799, rs945635, and rs3761959) were genotyped in 220 patients and 220 healthy controls. Typing of the polymorphisms in this case-control study was carried out using polymerase chain reaction-restriction fragment length polymorphism analysis. Results: Analysis of the alleles revealed a significantly lower frequency of the A allele at the -169 site (rs7528684) in BD patients compared with that in controls (P=0.000, 66.4% versus 82%, χ2= 30.23). Moreover, a significant lower frequency of AA genotype and higher frequency of GG genotype was recorded for rs7528684. There was also relationship between posterior uveitis as a clinical sign of disease and polymorphism of allele A at the -169 site (P=0.015). Conclusion: This study revealed a significant difference in both allele and genotype frequency at position -169 of FCRL3 gene between Iranian patients with BD and normal subjects. These data suggest FCRL3 gene polymorphisms might be the autoimmunity risk factor for BD.

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Association of FCRL3 Genetic Polymorphisms With Endometriosis-Related Infertility Risk

Cited by 14 publications

References 45 publications

Involvement of 17β-hydroxysteroid dehydrogenase type gene 1 937 A>G polymorphism in infertility in Polish Caucasian women with endometriosis

Involvement of 17β-hydroxysteroid dehydrogenase type gene 1 937 A>G polymorphism in infertility in Polish Caucasian women with endometriosis

Defining the genetic profile of endometriosis (Review)

Single Nucleotide Polymorphisms of FCRL3 in Iranian Patients with Behcet’s Disease

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