SNPMiner Trials by Shray Alag


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Report for SNP rs6166

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 3 clinical trials

Clinical Trials


1 Significance of the FSH Receptor Polymorphism p.N680S for the Efficacy of FSH Therapy of Idiopathic Male Infertility: a Pharmacogenetic Approach

CONDITION: Idiopathic male infertility In men with idiopathic infertility, the sperm DNA fragmentation index (DFI) within 12 weeks of FSH therapy and 12 weeks follow-up improves depending on the FSHR genotype as assessed by the non-synonymous SNP rs6166 (wild type or p.N680S). This is a phase II b, multicenter, prospective, open label, one arm, clinical trial stratified according to the patient's genotype. INTERVENTION: FSH therapy (150 I.U. sc every other day for 12 weeks) in infertile men who are homozygous for the wild-type FSHR or the p.N680S allele of the FSHR. Duration of intervention per patient: 12 weeks Primary efficacy endpoint: Sperm DFI. Number of patients with an improvement in DFI > 60% Key secondary endpoint(s): pregnancy, semen parameters, serum levels of inhibin B and AMH.

NCT02349945 Male Infertility Drug: follitropin alpha
MeSH: Infertility Infertility, Male
HPO: Infertility Male infertility

FSH Receptor Polymorphism p.N680S and Efficacy of FSH Therapy CONDITION: Idiopathic male infertility In men with idiopathic infertility, the sperm DNA fragmentation index (DFI) within 12 weeks of FSH therapy and 12 weeks follow-up improves depending on the FSHR genotype as assessed by the non-synonymous SNP rs6166 (wild type or p.N680S).

In women, the response to FSH varies depending on the FSH receptor (FSHR) genotype, as determined by the non-synonymous SNP rs6166, which exchanges the amino acid Asn to Ser in codon 680.

The investigators hypothesize that the variable response to FSH in unselected infertile men is due to a different individual sensitivity to FSH as determined by the common FSHR polymorphism rs6166.

Primary Outcomes

Measure: Sperm DFI

Time: "after 12 weeks"

Secondary Outcomes

Measure: Sperm DFI (DNA Fragmentation Index)

Time: "Baseline"

Measure: Sperm DFI

Time: "after 24 weeks"

Other Outcomes

Measure: Pregnancy rate

Time: "baseline"

Measure: Pregnancy rate

Time: "After 12 weeks"

Measure: Pregnancy rate

Time: "after 24 weeks"

Measure: Sperm count

Time: "baseline"

Measure: Sperm count

Time: "after 12 weeks"

Measure: Sperm count

Time: "after 24 weeks

Description: Serum dosage

Measure: Inhibin B

Time: "baseline"

Description: Serum dosage

Measure: Inhibin B

Time: "after 12 weeks"

Description: Serum dosage

Measure: Inhibin B

Time: "after 24 weeks"

Description: Serum dosage of Anti-Mullerian Hormone

Measure: Anti-Mullerian Hormone (AMH)

Time: "baseline"

Description: Serum dosage of Anti-Mullerian Hormone

Measure: AMH

Time: "after 12 weeks"

Description: Serum dosage of Anti-Mullerian Hormone

Measure: AMH

Time: "after 24 weeks"

2 Assessing the Relation Between Hormone Receptors Gene Polymorphism and Ovarian Stimulation Response in In Vitro Fertilization (IVF) Program

The aim of this study is to assess the role of AMH in prediction of poor ovarian response as well as the relation between ESR2 (+1730G>A) (rs4986938), FSHR p.Thr307Ala (c.919A>G, rs6165) and FSHR p.Asn680Ser (c.2039A>G, rs6166) SNPs and the poor response in Egyptian women undergoing IVF procedure. Discovering the genetic variants associated with ovarian response is an important step towards individualized pharmacogenetic protocols of ovarian stimulation.

NCT02640976 Infertility Drug: Human menopausal gonadotrophin (HMG) Drug: GnRH antagonist Cetrorelix Drug: Human chorionic gonadotrophin (hCG)
MeSH: Infertility
HPO: Infertility

Poor Ovarian Stimulation Response in In Vitro Fertilization (IVF) Program The aim of this study is to assess the role of AMH in prediction of poor ovarian response as well as the relation between ESR2 (+1730G>A) (rs4986938), FSHR p.Thr307Ala (c.919A>G, rs6165) and FSHR p.Asn680Ser (c.2039A>G, rs6166) SNPs and the poor response in Egyptian women undergoing IVF procedure.

36 hours later, oocyte retrieval will be performed and will be guided by transvaginal ultrasound.. Detection of the single nucleotide polymorphisms ESR2(+1730G>A) (rs4986938), FSHR p.Thr307Ala (c.919A>G, rs6165) and FSHR p.Asn680Ser (c.2039A>G, rs6166) SNPs will be performed using the TaqMan system by real-time polymerase chain reaction (PCR).

Detection of the polymorphisms ESR2 (+1730G>A) (rs4986938), FSHR p.Thr307Ala (c.919A>G, rs6165) and FSHR p.Asn680Ser (c.2039A>G, rs6166) SNPs will be performed using the TaqMan system by real-time polymerase chain reaction (PCR).

Primary Outcomes

Description: when at least 3 follicles will reach 17 mm in diameter, ovulation will be triggered by a single intra-muscular injection of 10,000 IU of hCG [Choriomon® 5000 IU ampoules, IBSA institut]. 36 hours later, oocyte retrieval will be performed and will be guided by transvaginal ultrasound.

Measure: number of oocytes collected

Time: 3 weeks from of start of ICSI cycle

Secondary Outcomes

Description: By using PCR, we will indicate the genotype in each individual and determine the probability of the poor ovarian response.

Measure: Detection of the single nucleotide polymorphisms ESR2(+1730G>A) (rs4986938), FSHR p.Thr307Ala (c.919A>G, rs6165) and FSHR p.Asn680Ser (c.2039A>G, rs6166) SNPs will be performed using the TaqMan system by real-time polymerase chain reaction (PCR)

Time: Within 1 week

Other Outcomes

Description: Based on FSH level, the dose of HMG ( Merional) will be adjusted for each individual.

Measure: Laboratory analysis of basal follicle stimulating hormone level for each individual will be measured by enzyme-linked immunosorbent assay (ELISA)

Time: Done within 3 months preceeding the ICSI cycle

Description: Based on AMH level, the dose of HMG (Merional) will be adjusted for each individual.

Measure: Laboratory analysis of anti-mullerian hormone level (AMH) will be measured by ELISA technique for each individual.

Time: Done within 3 months preceeding the ICSI cycle.

3 Role of FSHR Polymorphism p.N680S in the Therapy With FSH in Patients Who Underwent Varicocele Surgery

Two common SNPs are located in linkage disequilibrium in exon 10 of FSHR. The 2039 A>G variant is regularly analyzed to characterize the exon 10 haplotype. In the last years, it has been showed an influence of FSHR 2039 A>G on FSH levels, testicular volume, sperm concentration and the total sperm count. A recent Cochrane review showed a beneficial effect on live birth and pregnancy of gonadotrophin treatment for men with idiopathic male factor subfertility. Which FSHR polymorphism can benefit from FSH treatment is clinically very important, in particular for what regards nonidiopathic patients. In many andrological units, patients underwent adiuvant therapy with purified or recombinant FSH after varicocelectomy. FSH treatment in patients after varicocelectomy could improve spermatogenesis, but there aren't multicentric trials that confirm its validity. Usually, in our hospital only patients with a morphologic aspect of hypospermatogenesis underwent therapy with purified or recombinant FSH, because this therapy is not much useful in patient with Partial Sertoli-cell-only syndrome or maturation arrest. The purpose of our study is to correlate "non responder" patients who underwent FSH adiuvant therapy after varicocele surgery with a p.N680S FSHR polymorphism. Moreover the investigators suppose that "non responder" patients can beneficiate from a high-dose therapy with FSH. This is a prospective intervention study in which are recruited males with OligoAstenoTeratozoospermic (OAT) and varicocele. The partecipants will undergo subinguinal microsurgical varicocelectomy (Marmar technique) and needle aspiration testicular cytology (Foresta technique).

NCT02719093 Infertility, Male Varicocele Drug: recombinant FSH
MeSH: Infertility Varicocele Infertility, Male
HPO: Infertility Male infertility Varicocele

Infertility, Male Varicocele Infertility Varicocele Infertility, Male Two common SNPs (c.919 A>G, pT307A, rs 6165 and c.2039 A>G, p.N680S, rs6166) are located in linkage disequilibrium in exon 10 of FSHR.

Primary Outcomes

Description: Response to therapy indicated by significant increase in sperm count (million/ejaculate) according to WHO Laboratory Manual for the Examination and Processing of Human Semen (5th edn.)

Measure: Total sperm count

Time: After subinguinal microsurgical varicocelectomy and therapy with recombinant follitropin alfa 150UI i.m. 3 times/week for three months

Description: Response to therapy indicated by significant increase in sperm concentration (million/mL) according to WHO Laboratory Manual for the Examination and Processing of Human Semen (5th edn.)

Measure: Sperm concentration

Time: After subinguinal microsurgical varicocelectomy and therapy with recombinant follitropin alfa 150UI i.m. 3 times/week for three months

Description: Response to therapy indicated by significant increase in total motility (%) according to WHO Laboratory Manual for the Examination and

Measure: Total motility

Time: After subinguinal microsurgical varicocelectomy and therapy with recombinant follitropin alfa 150UI i.m. 3 times/week for three months

Description: Response to therapy indicated by significant increase in progressive motility (%) according to WHO Laboratory Manual for the Examination and

Measure: Progressive motility

Time: After subinguinal microsurgical varicocelectomy and therapy with recombinant follitropin alfa 150UI i.m. 3 times/week for three months

Description: Response to therapy indicated by significant increase in sperm morphology (normal forms) (%) according to WHO Laboratory Manual for the Examination and

Measure: Sperm morphology (normal forms)

Time: After subinguinal microsurgical varicocelectomy and therapy with recombinant follitropin alfa 150UI i.m. 3 times/week for three months

Secondary Outcomes

Description: Response to therapy indicated by significant increase in sperm count (million/ejaculate) according to WHO Laboratory Manual for the Examination and

Measure: Total sperm count

Time: After a daily dose of rFSH 150 UI for additional three months in "non responders" patients to the first three months of therapy with recombinant follitropin alfa 150UI i.m. 3 times/week

Description: Response to therapy indicated by significant increase in sperm concentration (million/mL) according to WHO Laboratory Manual for the Examination and

Measure: Sperm concentration

Time: After a daily dose of rFSH 150 UI for additional three months in "non responders" patients to the first three months of therapy with recombinant follitropin alfa 150UI i.m. 3 times/week

Description: Response to therapy indicated by significant increase in total motility (%) according to WHO Laboratory Manual for the Examination and

Measure: Total motility

Time: After a daily dose of rFSH 150 UI for additional three months in "non responders" patients to the first three months of therapy with recombinant follitropin alfa 150UI i.m. 3 times/week

Description: Response to therapy indicated by significant increase in progressive motility (%) according to WHO Laboratory Manual for the Examination and

Measure: Progressive motility

Time: After a daily dose of rFSH 150 UI for additional three months in "non responders" patients to the first three months of therapy with recombinant follitropin alfa 150UI i.m. 3 times/week

Description: Response to therapy indicated by significant increase in sperm morphology (normal forms) (%) according to WHO Laboratory Manual for the Examination and

Measure: Sperm morphology (normal forms)

Time: After a daily dose of rFSH 150 UI for additional three months in "non responders" patients to the first three months of therapy with recombinant follitropin alfa 150UI i.m. 3 times/week


HPO Nodes


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
Male infertility
Genes 52
VAMP7 ZFPM2 AMHR2 PMFBP1 ADGRG2 SOX9 RBMY1A1 DDX3Y STRC STRC FANCA CATSPER2 GATA4 DAZ2 USP9Y STRC TGFB1 PMFBP1 DNAI2 WT1 NR0B1 CATSPER2 CFTR AMH TEX11 SRY DMRT3 DNAAF5 DAZ4 ARMC2 NR5A1 DNAI1 SRY CFTR MAP2K1 MAP3K1 PTPN11 DAZ3 DAZ1 TSPY1 PPP2R3C BRAF AURKC GCM2 FCGR2A CATSPER2 SUN5 CATSPER1 LHCGR CYP19A1 CTNS WWOX
Varicocele
Genes 4
PIK3CA SRCAP PTEN AKT1