The distribution of human endogenous retrovirus K-113 in health and autoimmune diseases in Poland

Krzysztalowska-Wawrzyniak, Maja; Ostanek, Magdalena; Jw, Clark; Bińczak-Kuleta, Agnieszka; Ostanek, Lidia; Kaczmarczyk, Mariusz; Łoniewska, Beata; Brzosko, Marek; Ciechanowicz, Andrzej

doi:10.1093/rheumatology/ker022

Cited by 29 publications

(24 citation statements)

References 18 publications

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“…In Europe the frequency of HERV-K113 insertion was between 0 and 4.2% [19], [26], [39]. Krzyształowska-Wawrzyniak et al determined HERV-K113 frequency for the Polish population as 8.05% [44]. Against this background HERV-K113 frequency (11.88%) determined in our study was much higher and rather close to that given by Burmeister et al for the German population (12.8%) [26].…”

Section: Discussionsupporting

confidence: 86%

“…Another beneficial aspect of HERVs presence in the human genome could be interference with exogenous retroviruses by blocking their receptors with protein Env or interference with virus replication by antisense RNA, which was shown in the case of murine endogenous retroviruses [4]. HERVs were found to be related to various diseases, such as autoimmune diseases [14], [19]–[23], [44], cancer [26], [45], [46], and even mental disorders [17], [24], [30]. It was not clear whether HERVs were causative agents of the disease, or whether their expression during disease development occurred only accidentally.…”

Section: Discussionmentioning

confidence: 99%

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Frequency of Human Endogenous Retroviral Sequences (HERV) K113 and K115 in the Polish Population, and Their Effect on HIV Infection

et al. 2013

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BackgroundThe human genome contains about 8% of endogenous retroviral sequences originated from germ cell infections by exogenous retroviruses during evolution. Most of those sequences are inactive because of accumulation of mutations but some of them are still capable to be transcribed and translated. The latter are insertionally polymorphic HERV-K113 and HERV-K115. It has been suggested that their presence and expression was connected with several human diseases. It is also believed that they could interfere with the replication cycle of exogenous retroviruses, including HIV.ResultsPrevalence of endogenous retroviral sequences HERV-K113 and HERV-K115 was determined in the Polish population. The frequencies were found as 11.8% for HERV-K113 and 7.92% for HERV-K115. To verify the hypothesis that the presence of these HERVs sequences could affect susceptibility to HIV infection, comparison of a control group (HIV-negative, not exposed to HIV; n = 303) with HIV-positive patients (n = 470) and exposed but uninfected (EU) individuals (n = 121) was performed. Prevalence of HERV-K113 and HERV-K115 in the EU group was 8.26% and 5.71%, respectively. In the HIV(+) group we detected HERV-K113 sequences in 12.98% of the individuals and HERV-K115 sequences in 7.23% of the individuals. There were no statistically significant differences between groups studied.ConclusionThe frequency of HERV-K113 and HERV-K115 sequences in Poland were found to be higher than usually shown for European populations. No relation between presence of the HERVs and HIV infection was detected.

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Section: Discussionsupporting

confidence: 86%

Section: Discussionmentioning

confidence: 99%

Frequency of Human Endogenous Retroviral Sequences (HERV) K113 and K115 in the Polish Population, and Their Effect on HIV Infection

et al. 2013

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“…Thus, the pathological role of ERVK remains speculative [8-10]. It is clear however, that ERVK is transcriptionally active in inflammatory diseases including Rheumatoid Arthritis (RA) [11], Systemic Lupus Erythematosus (SLE) [12], Schizophrenia [13], Amyotrophic Lateral Sclerosis (ALS)[14], and multiple types of cancers [15]. Several infectious diseases are also characterized by enhanced ERVK expression, including Human Immunodeficiency Virus (HIV) infection [16,17].…”

Section: Reviewmentioning

confidence: 99%

Endogenous retrovirus-K promoter: a landing strip for inflammatory transcription factors?

2013

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Humans are symbiotic organisms; our genome is populated with a substantial number of endogenous retroviruses (ERVs), some remarkably intact, while others are remnants of their former selves. Current research indicates that not all ERVs remain silent passengers within our genomes; re-activation of ERVs is often associated with inflammatory diseases. ERVK is the most recently endogenized and transcriptionally active ERV in humans, and as such may potentially contribute to the pathology of inflammatory disease. Here, we showcase the transcriptional regulation of ERVK. Expression of ERVs is regulated in part by epigenetic mechanisms, but also depends on transcriptional regulatory elements present within retroviral long terminal repeats (LTRs). These LTRs are responsive to both viral and cellular transcription factors; and we are just beginning to appreciate the full complexity of transcription factor interaction with the viral promoter. In this review, an exploration into the inflammatory transcription factor sites within the ERVK LTR will highlight the possible mechanisms by which ERVK is induced in inflammatory diseases.

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“…In multiple reports, specific attention has been given to these two proviruses as possible candidates for roles in human diseases, including breast cancer [54], multiple sclerosis [56,57], schizophrenia [60], and autoimmune diseases [55,57]. Two of these reports are worth noting, in the context of the results presented here.…”

Section: Discussionmentioning

confidence: 78%

The distribution of insertionally polymorphic endogenous retroviruses in breast cancer patients and cancer-free controls

et al. 2014

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BackgroundIntegration of retroviral DNA into a germ cell can result in a provirus that is transmitted vertically to the host’s offspring. In humans, such endogenous retroviruses (HERVs) comprise >8% of the genome. The HERV-K(HML-2) proviruses consist of ~90 elements related to mouse mammary tumor virus, which causes breast cancer in mice. A subset of HERV-K(HML-2) proviruses has some or all genes intact, and even encodes functional proteins, though a replication competent copy has yet to be observed. More than 10% of HML-2 proviruses are human-specific, having integrated subsequent to the Homo-Pan divergence, and, of these, 11 are currently known to be polymorphic in integration site with variable frequencies among individuals. Increased expression of the most recent HML-2 proviruses has been observed in tissues and cell lines from several types of cancer, including breast cancer, for which expression may provide a meaningful marker of the disease.ResultsIn this study, we performed a case–control analysis to investigate the possible relationship between the genome-wide presence of individual polymorphic HML-2 proviruses with the occurrence of breast cancer. For this purpose, we screened 50 genomic DNA samples from individuals diagnosed with breast cancer or without history of the disease (n = 25 per group) utilizing a combination of locus-specific PCR screening, in silico analysis of HML-2 content within the reference human genome sequence, and high-resolution genomic hybridization in semi-dried agarose. By implementing this strategy, we were able to analyze the distribution of both annotated and previously undescribed polymorphic HML-2 proviruses within our sample set, and to assess their possible association with disease outcome.ConclusionsIn a case–control analysis of 50 humans with regard to breast cancer diagnosis, we found no significant difference in the prevalence of proviruses between groups, suggesting common polymorphic HML-2 proviruses are not associated with breast cancer. Our findings indicate a higher level of putatively novel HML-2 sites within the population, providing support for additional recent insertion events, implying ongoing, yet rare, activities. These findings do not rule out either the possibility of involvement of such proviruses in a subset of breast cancers, or their possible utility as tissue-specific markers of disease.

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The distribution of human endogenous retrovirus K-113 in health and autoimmune diseases in Poland

Cited by 29 publications

References 18 publications

Frequency of Human Endogenous Retroviral Sequences (HERV) K113 and K115 in the Polish Population, and Their Effect on HIV Infection

Frequency of Human Endogenous Retroviral Sequences (HERV) K113 and K115 in the Polish Population, and Their Effect on HIV Infection

Endogenous retrovirus-K promoter: a landing strip for inflammatory transcription factors?

The distribution of insertionally polymorphic endogenous retroviruses in breast cancer patients and cancer-free controls

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