SNPMiner Trials (Home Page)
Report for SNP rs12676
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There is one clinical trial.
Clinical Trials
The ability of sperm to swim is important for normal fertility. Men with a genetic variation
in the gene coding for Choline Dehydrogenase (CHDH) have decreased energy production by
sperm, and their sperm do not swim normally. The metabolic product of this gene is a nutrient
called betaine (found normally in the diet as a part of many foods such as spinach, beets and
grain products). This study tests whether treatment with betaine is safe and whether it can
normalize energy production in sperm of these men and restore normal swimming ability.
NCT02122211 Men Carrying 2 Minor Alleles for Choline Dehydrogenase rs12676 Male Infertility Drug: Betaine supplement
Inclusion Criteria:
- 18 - 60 year old men of multiple races and ethnicities
- Estimated dietary intake of betaine of <150 mg/day
- Carrying two alleles of the rs 12676 single nucleotide polymorphism
Exclusion Criteria:
- Cystathionine-beta-synthase (CBS) deficiency
- Currently taking betaine supplements
- Currently receiving chemotherapy, radiation or any gonadotoxic drug
- Female gender
Inclusion Criteria:
- 18 - 60 year old men of multiple races and ethnicities
- Estimated dietary intake of betaine of <150 mg/day
- Carrying two alleles of the rs 12676 single nucleotide polymorphism
Exclusion Criteria:
- Cystathionine-beta-synthase (CBS) deficiency
- Currently taking betaine supplements
- Currently receiving chemotherapy, radiation or any gonadotoxic drug
- Female gender
Men Carrying 2 Minor Alleles for Choline Dehydrogenase rs12676
Male Infertility
Infertility
Infertility, Male
Unidentified genetic aberrations such as single nucleotide polymorphisms (SNPs) may be the
underlying cause of many cases of idiopathic infertility in men.
5-9% of men have 2 alleles
for a functional SNP in CHDH (rs12676), and they have low sperm adenosine triphosphate (ATP)
concentrations with impaired sperm motility (asthenospermia) that should decrease fertility.
This purpose of this study is to conduct a phase I study of betaine treatment in men with 2
minor alleles for CHDH rs12676 to determine whether betaine supplementation is safe and to
obtain preliminary data on the effects of betaine on sperm mitochondrial ATP concentrations
and sperm motility in these men.
Primary Outcomes
Description: Assessed using Computer-Aided Sperm Analysis methodology
Measure: Change in sperm motility from baseline
Time: On day zero, day 10, day 30, day 50 and at the end of the 75 day treatment period
Measure: Change in sperm count from baseline
Time: On day zero, day 10, day 30, day 50 and at the end of the 75 day treatment period
Description: Using Seahorse biochemical function assessment
Measure: Change in sperm mitochondrial function from baseline
Time: On day zero, day 10, day 30, day 50 and at the end of the 75 day treatment period
Description: Using light and transmission electron microscopy
Measure: Change in sperm ultrastructure from baseline
Time: On day zero, day 10, day 30, day 50 and at the end of the 75 day treatment period
Description: Assessed by Western Blot analysis
Measure: Change in sperm choline dehydrogenase concentration from baseline
Time: On day zero, day 10, day 30, day 50 and at the end of the 75 day treatment period
Measure: Change in sperm betaine concentration from baseline
Time: On day zero, day 10, day 30, day 50 and at the end of the 75 day treatment period
Secondary Outcomes
Description: Assessed using 3-day food records
Measure: Betaine intake
Time: At screening and every 21 days during the study
Measure: Change in complete blood count from baseline
Time: At 0, 10, 30, 50, and 75 days on treatment
Measure: Change in uric acid concentration from baseline
Time: At 0, 10, 30, 50, and 75 days on treatment
Measure: Change in alkaline phosphatase concentration from baseline
Time: At 0, 10, 30, 50, and 75 days on treatment
Measure: Change in aspartate transaminase concentration from baseline
Time: At 0,10, 30, 50, and 75 days on treatment
Measure: Change in lactic dehydrogenase concentration from baseline
Time: At 0, 10, 30, 50, and 75 days on treatment
Measure: Change in bilirubin concentration from baseline
Time: At 0, 10, 30, 50, and 75 days on treatment
Measure: Change in blood urea nitrogen concentration from baseline
Time: At 0, 10, 30, 50, and 75 days on treatment
Measure: Change in creatinine concentration from baseline
Time: At 0, 10, 30, 50, and 75 days on treatment
Measure: Change in urinalysis parameters from baseline
Time: At 0, 10, 30, 50, and 75 days on treatment
HPO Nodes
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 hr>
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 hr>