SNPMiner Trials by Shray Alag


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Report for Mutation N312S

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 3 clinical trials

Clinical Trials


1 Impact of Gonadotrophin REceptor Polimorphisms on the Relationship Between Serum AMH and Ovarian Response

Aim of study: To compare the relationship between serum AMH and ovarian response for IVF with the GnRH antagonist protocol in patients who are carriers of FSH and/or LH receptor polymorphisms with those that are not.

NCT03388099 antim├╝llerian Hormone and Gonadotrophin Receptor Polymorphism as Predictors of Ovarian Response

To define the incidence of carriers of polymorphisms in the FSH receptor (FSHR) variant N680S (homozygous and heterozygous) among women undergoing ovarian stimulation for IVF.. polymorphisms in the LH receptor (LHR) variant N312S. --- N680S --- --- N312S ---

To define the incidence of carriers of polymorphisms in the LH receptor (LHR) variant N312S (homozygous and heterozygous) among women undergoing ovarian stimulation for IVF.. Doses of gonadotrophin needed and polymorphisms. --- N312S ---

Primary Outcomes

Description: To compare the relationship between serum AMH and ovarian response for IVF with the GnRH antagonist protocol in patients who are carriers of FSH and/or LH receptor polymorphisms with those that are not.

Measure: Gonadotrophin receptor polymorphisms and ovarian response and AMH value

Time: 1 year

Secondary Outcomes

Description: To define the incidence of carriers of polymorphisms in the FSH receptor (FSHR) variant N680S (homozygous and heterozygous) among women undergoing ovarian stimulation for IVF.

Measure: polymorphisms in the FSH receptor (FSHR) variant N680S

Time: 1 year

Description: To define the incidence of carriers of polymorphisms in the LH receptor (LHR) variant N312S (homozygous and heterozygous) among women undergoing ovarian stimulation for IVF.

Measure: polymorphisms in the LH receptor (LHR) variant N312S

Time: 1 year

Description: To analyse the doses of gonadotrophins needed for stimulation on each group of patients

Measure: Doses of gonadotrophin needed and polymorphisms

Time: 1 year

2 Prospective Randomised Clinical Study on Pharmacogenetics of Gonadotropin Receptors in Relation to Pregnancy and Life Birth Rate as Well as Unwanted Side Effects Such as Ovarian Hyper Stimulation Syndrome During Assisted Reproduction.

The aim is to be able to predict the hormonal response according to gonadotropin receptor genotype and hormone type used for treatment of women undergoing in vitro fertilization or egg donation. Outcome will be measured as pregnancy success, live born babies and unwanted side effects.

NCT03737253 Female Infertility Drug: Follitropin alpha Drug: Menotropin
MeSH: Infertility Infertility, Female
HPO: Female infertility Infertility

This assumption is supported by a recent study on more than 600 women undergoing in vitro fertilization, demonstrating that whereas only 10% of women with asparagine in both genes (FSHR N680S and LHR N312S) became pregnant, 40% of those with serine did (Lindgren I et al. --- N680S --- --- N312S ---

Primary Outcomes

Description: Association between pregnancy rate and genotype is evaluated

Measure: Pregnancy

Time: up to 12 months after treatment

Secondary Outcomes

Description: Number of eggs developed in response to drug according to genotype is measured

Measure: Number of oocytes

Time: up to 6 months after treatment

Description: Live birth rate according to genotype is analyzed

Measure: live birth

Time: up to 12 months after treatment

Other Outcomes

Description: Association between overreaction to hormonal stimulation and genotype is analysed

Measure: Ovarian hyper stimulation syndrome

Time: Up to 6 months after treatment

Description: No or poor development of eggs in response to drug is analysed, genotype taken into account

Measure: Poor response

Time: Up to 6 months after treatment

3 Study of the N680S Polymorphism of the FSHR Gene and Its Relationship With the Type of Gonadotropin Used in Controlled Ovarian Stimulation

This project wants to determinate whether there is a relationship between the N680S polymorphism genotype of the FSHR gene and the nature of the FSH used in controlled ovarian stimulation. It is a non-interventional, observational, cross-sectional and retrospective, national and multicenter study, in which a genetic test will be carried out to determine the genotype of the N680S polymorphism in samples of blood of patients who have undergone two cycles of controlled ovarian stimulation in the last 8 months.

NCT04122729 In Vitro Fertilization Controlled Ovarian Stimulation

Genotype of the N312S polymorphism of the LHCGR gene. --- N312S ---

Genotype of the N312S polymorphism of the LHCGR gene will be tested on blood samples. --- N312S ---

Primary Outcomes

Description: Number of oocytes retrieved in each IVF/ICSI cycle with controlled ovarian stimulation used different nature of the FSH in each one (human FSH and recombinant FSH).

Measure: Oocytes retrieved

Time: Through study completion, an average of 1 year

Description: Genotype of the N680S polymorphism of the FSHR gene will be tested on blood samples

Measure: Genotype of the N680S polymorphism of the FSHR gene

Time: Through study completion, an average of 1 year

Secondary Outcomes

Description: Genotype of the N312S polymorphism of the LHCGR gene will be tested on blood samples

Measure: Genotype of the N312S polymorphism of the LHCGR gene

Time: Through study completion, an average of 1 year


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