The promoter -1031(T/C) polymorphism in tumor necrosis factor-alpha associated with polycystic ovary syndrome

Yun, Ji-Hyun; Choi, Jin‐Woo; Lee, Kyung-Ju; Shin, Jae Sung; Baek, Kwang‐Hyun

doi:10.1186/1477-7827-9-131

Cited by 41 publications

(46 citation statements)

References 42 publications

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“…Eight publications were excluded for insufficient or uncorrelated data according to our inclusion criteria [9,11,10,14,13,23,24,30]. Finally, 18 articles met the inclusion criteria and were selected [8,7,27,12,28,18,15,17,20,19,22,21,25,26,29,31,16]. The study selection process is shown in Fig.…”

Section: Search Resultsmentioning

confidence: 99%

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Associations between TNF-α and interleukin gene polymorphisms with polycystic ovary syndrome risk: a systematic review and meta-analysis

Yang

2015

J Assist Reprod Genet

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Background The associations between TNF-α and Interleukin gene polymorphisms and polycystic ovary syndrome (PCOS) risk have been studied in numerous epidemiological studies, but the results remain controversial. To investigate whether these polymorphisms facilitate susceptibility to PCOS, we conducted a comprehensive systematic review and meta-analysis. Methods PubMed, Embase, Web of Science, Medline, CNKI, and Google Scholar were searched to obtain the genetic association studies according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Odds ratios (OR) with corresponding 95 % confidence intervals (CI) were used to assess the strengths of the associations. Funnel plots and Egger's tests were performed to test for possible publication bias. All statistical analyses were performed using Review No associations were found with the other genetic models. Conclusion The results of the meta-analysis suggest positive associations between the TNF-α -1031 T> C and IL-6 -174G>C polymorphisms and the risk of PCOS. No associations are found between PCOS risk and the TNF-α -308G>A, TNF-α -805C>T, IL-1A -889C>T, IL-1B -511C>T, IL-1B + 3953C>T, IL-10 -819C>T, IL-10 -1082 A>G, IL-18 -607C> A, and IL-18 -137G>C polymorphisms. However, due to the heterogeneity and low quality of the studies related to PCOS polymorphisms in the meta-analysis, the results should be interpreted with caution. Future multi-ethnicity studies of homogeneous populations of PCOS patients with larger sample sizes and well-matched controls are needed.

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Section: Search Resultsmentioning

confidence: 99%

“…For -805C>T, 87 cases and 115 controls were analyzed from the study by Korhonen [29]. Finally, for the -1031 T>C polymorphism, 500 PCOS cases and 450 controls from 2 articles were included [28,27].…”

Section: Study Characteristicsmentioning

confidence: 99%

Associations between TNF-α and interleukin gene polymorphisms with polycystic ovary syndrome risk: a systematic review and meta-analysis

Yang

2015

J Assist Reprod Genet

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“…The aetiology of PCOS is not yet clear however genetic, biochemical, immunological and environmental factors are implicated in the aetiopathogeneis of this multifactorial condition [3]. Several candidate genes have been proposed as important contributors to PCOS but none have yet achieved acceptance as major cause [4]. Janine et al, (2001) suggested the involvement of cytokines as regulatory factors in follicular development in ovary and the frequently studied cytokine in the ovary is Tumor Necrosis Factor alpha (TNF-α) [5].…”

Section: Introductionmentioning

confidence: 99%

TNF-α haplotype association with polycystic ovary syndrome – a South Indian study

Deepika¹,

Reddy²,

Yashwanth³

et al. 2013

J Assist Reprod Genet

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Background Tumor Necrosis Factor Alpha (TNF-α), is a proinflammatory cytokine in the pathogenesis of Polycystic Ovary Syndrome (PCOS). In order to investigate the role of rs1800629 and rs1799964 polymorphisms in relation to anthropometric measures, family history of complex diseases, diet and clinical features, we performed a case control study in PCOS women from South India. Methods A total of 589 samples comprising of 283 patients and 306 controls were enrolled in the present study. Patients were selected based on Rotterdam criteria and ultrasound scanned normal women were selected as controls. Following extraction of DNA, genotyping for rs1800629 and rs1799964 was performed by polymerase chain reaction using tetra primers and PCR-RFLP respectively. Results The distribution of genotypes for rs1799964 was significantly different between the groups (p =0.001), however it was not for rs1800629. Haplotype analysis revealed a significant difference between patients and controls. The predisposing and protective role of haplotype with mutant allele at both loci (combination 3) and haplotype with mutant allele at either loci was reflected by the over representation of combination 3 in patients and combination 2 in controls respectively. In addition, rs1799964 showed an association with dietary habit, clinical hyperandrogenism and AAO. The modifying role of TT genotype on age at onset was noted in quartile analysis. ConclusionReplicative studies on the influence of TNF-α polymorphism in different ethnic groups may identify the potentiality of these polymorphisms as markers of inflammation and in turn may help the clinicians for the better management of the condition.

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“…SNPs in TNF-α with PCOS, such as -1031 T>C (rs1799964) and rs1800629 in promoter region of TNF-α (Yun et al 2011;Deepika et al 2013Deepika et al , 2016. The SNP rs1799964 has been linked with altered promoter activity leading to varied plasma TNF-α levels in healthy subjects and repeatedly reported to be significantly associated with PCOS (Yun et al 2011;Deepika et al 2013Deepika et al , 2016.…”

Section: Discussionmentioning

confidence: 99%

“…The SNP rs1799964 has been linked with altered promoter activity leading to varied plasma TNF-α levels in healthy subjects and repeatedly reported to be significantly associated with PCOS (Yun et al 2011;Deepika et al 2013Deepika et al , 2016. Unfortunately, the various association studies on rs1800629 have obtained conflicting results due to their relative small sample size (Deepika et al 2013;Kume et al 2016).…”

Section: Discussionmentioning

confidence: 99%

A Missense Variant rs4645843 in <i>TNF-</i><i>α</i> Gene Is a Risk Factor of Polycystic Ovary Syndrome in the Uygur Population

Zhao

Wan

2017

Tohoku J. Exp. Med.

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Polycystic ovary syndrome (PCOS) is a complex endocrine syndrome, resulting from the interaction of gene variants and environmental factors. PCOS is viewed as a proinflammatory state and is characterized by hyperandrogenism, hyperinsulinemia, and over-weight. In China, the incidence of PCOS is higher in the Uygur population than that in the Chinese Han population. The association of the tumor necrosis factor α (TNF-α ) gene with PCOS remains to be clarified. Here, we investigated the association of TNF-α polymorphisms with PCOS in the Uygur population (393 patients with PCOS and 381 healthy subjects). Two single-nucleotide polymorphisms in TNF-α were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method: rs1800629 (-308G/A polymorphism), a commonly tested variant and rs4645843 (6213C/T polymorphism) that causes a Pro-to-Leu substitution at position 84, the most damaging variant of TNF-α based on in silico analysis. We thus found that both the genotypic and allelic distributions of rs4645843 were significantly different between PCOS and control groups (p = 0.03 and 0.024, respectively), whereas those of rs1800629 were similar between the groups. Furthermore, rs4645843 was significantly associated with serum testosterone levels and the score of Homeostatic Model Assessment for Insulin Resistance (HOMA-IR), but no such association was found with rs1800629. Importantly, both rs4645843 and rs1800629 were significantly associated with higher body mass index (p < 0.05). This is the first study that shows the association of TNF-α gene with PCOS in the Uygur population. The TNF-α gene may influence the pathogenesis of PCOS through regulating testosterone level, obesity and HOMA-IR.

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The promoter -1031(T/C) polymorphism in tumor necrosis factor-alpha associated with polycystic ovary syndrome

Cited by 41 publications

References 42 publications

Associations between TNF-α and interleukin gene polymorphisms with polycystic ovary syndrome risk: a systematic review and meta-analysis

Associations between TNF-α and interleukin gene polymorphisms with polycystic ovary syndrome risk: a systematic review and meta-analysis

TNF-α haplotype association with polycystic ovary syndrome – a South Indian study

A Missense Variant rs4645843 in <i>TNF-</i><i>α</i> Gene Is a Risk Factor of Polycystic Ovary Syndrome in the Uygur Population

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