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Report for SNP rs66554220

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Prognostic Markers in Women With Primary Unexplained Infertility

1. Background: In women, unexplained infertility has been associated with a range of cellular and molecular defects in the endometrium, adverse immune responses and immunological factors. Natural killer (NK) cells are included as they constitute the most abundant leukocyte population in the decidua. While decidua NK cells were extensively investigated, the study of endometrial eNK cells still lacks comprehensive researches. The reduction in eNK frequency has been associated with infertility status, in particular in the presence of a concomitant herpesvirus viremia. Since herpesviruses use as immune-escape HLA-G and HLA-E molecules, that are immune-inhibitory and important for a correct placentation, they could represent infertility co-factors. 2. Aims: Since lack of an accurate diagnosis in reproductive medicine leads to treatment failure, this proposal focuses on eNK cell characterization as a diagnostic factor for unexplained women infertility. We will evaluate also co-factors, taking into consideration herpesvirus infection and HLA-G and HLA-E expression. 3. Methods: Peripheral blood and endometrial NK cells will be immune-phenotyped and cell count and activation status (CD107a, IL-6, IL-10, IL-17) will be correlated with infertility condition. The implication of herpesvirus will be evaluated by DNA from peripheral blood and endometrial flushing samples analysis by HSV-1, HSV-2, EBV, CMV, HHV-6, HHV-7, VZV and HHV-8 specific primers an PCR technique. HLA-G and HLA-E expression will be analyzed in peripheral blood and endometrial environment by flow cytometry and ELISA tests and correlated by NK cell expression of their receptors (KIRs, LILRB1/2, NKG2A). 4. Expected results: On the basis of our preliminary results, we expect to identify NK cells as prognostic marker for primary unexplained infertility, with herpesvirus infection and HLA-G and HLA-E expression as co-factors. These data will be of importance in the management of infertile women.

NCT03581617 Infertility, Female Diagnostic Test: NK cell analysis Diagnostic Test: Herpesvirus detection Diagnostic Test: sHLA-G analysis Diagnostic Test: HLA-G 14bp INS/DEL typing Diagnostic Test: sHLA-E analysis
MeSH: Infertility Infertility, Female
HPO: Female infertility Infertility

HLA-G expression is controlled by a polymorphism of insertion/deletion (ins/del) of 14 base pairs (rs66554220), where the deletion of 14bp stabilizes the mRNA producing higher levels of HLA-G (15).

We will genotype the women for rs66554220 polymorphism, to evaluate the implication in HLA-G levels of expression in infertile condition.

Primary Outcomes

Description: Percentage of (e)NK CD56brightCD16-

Measure: Prognostic value of NK cells in female idiopathic infertility

Time: 20 months

Description: Presence of HHVs infection in endometrial cells

Measure: Herpesvirus detection

Time: 16 months

Secondary Outcomes

Description: Levels of sHLA-G and sHLA-E in uterine flushing samples

Measure: Levels of sHLA-G and sHLA-E cellule pNK e eNK

Time: 16 months

Description: Frequency of HLA-G and HLA-E genetic polymorphisms

Measure: HLA-G and HLA-E genetic polymorphisms

Time: 10 months

Description: Levels of Th1 and Th2 cytokines

Measure: Cytokines levels in endometrial flushing samples

Time: 10 months


HPO Nodes


Female infertility
Genes 8
FOXL2 TLE6 TUBB8 ZP2 PANX1 HUWE1 PGR CYP19A1
Infertility
Genes 206
DNAH9 SNORD116-1 VAMP7 DNAH11 HJV PGR AXL SPAG1 PMFBP1 AR ADGRG2 SOX9 SEMA3E DNAAF3 GAS2L2 CCDC151 OTX2 STRC CFAP300 ZP3 ZMYND10 GATA4 HSD17B3 MKRN3 PMFBP1 DNAH1 CATSPER2 FSHB RSPH4A CFTR DUSP6 TEX11 NME8 DNAAF4 CEP19 SRY CCDC65 NR5A1 PROP1 HESX1 CFAP300 DNAI1 CDC14A MAP3K1 NR3C1 RSPH1 DNAH1 CCDC39 PWRN1 DNAL1 PATL2 GBA2 ZMYND10 LRRC6 FOXA2 QRICH2 CTNS DNAAF1 ZFPM2 GAS8 CFAP298 CFAP298 HSD17B3 CDH23 RBMY1A1 NR3C1 CATSPER2 GBA2 RNF216 ZP2 RSPH3 DNAAF2 PLCZ1 CCNO SRA1 DNAAF1 CCDC40 ZP1 TSGA10 DMRT3 DNAAF4 SNORD115-1 DNAH9 DNAI1 SRY DNAAF6 DNAH5 GCM2 DHH AR TTC25 FCGR2A FOXL2 SPEF2 IL17RD DNAAF5 HERC2 TEX14 CYP19A1 WWOX SNRPN AMHR2 ARMC4 FLRT3 NANOS1 IPW STRC SOHLH1 FANCA PROP1 DAZ2 MEI1 NPAP1 LMNA WDR11 HUWE1 CFAP221 KLHL10 PLIN1 DNAI2 TLE6 AMH PANX1 LHX4 GLI2 PRLR POLR3B WEE2 PADI6 DNAAF5 DAZ4 POU1F1 ARMC2 FGF17 STUB1 FOXJ1 SUN5 CFAP43 MAP2K1 CCNO FEZF1 DAZ3 TSPY1 RSPH1 DNAJB13 STK36 BRAF AURKC USP8 DNAH1 RSPH3 RSPH9 FSIP2 DRC1 LHCGR WDR66 CCDC103 TUBB8 AR DNAAF3 NDN LRRC56 LRRC6 MAGEL2 CCDC40 SOX3 MKRN3-AS1 SPRY4 DDX3Y PWAR1 SLC26A8 USP9Y DNAAF6 STRC GAS2L2 TGFB1 GNRH1 SPATA16 CCDC39 CDH23 PRLR H6PD WT1 NR0B1 OFD1 CFAP44 BRDT ZMPSTE24 MEIOB DNAI2 SEPTIN12 GNRHR CFTR CCDC141 PTPN11 CCDC114 DAZ1 PPP2R3C DNAJB13 RPGR CATSPER2 AK7 SUN5 CATSPER1 MCIDAS HYDIN