SNPMiner Trials by Shray Alag


SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT01227031

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Pharmacogenomic Study of Androgenetic Alopecia

Androgenic alopecia, the common form of hair loss is a highly heritable disorder of considerable social significance affecting around 40% of adult men and women. A variety of genetic and environmental factors are likely to play a role in androgenetic alopecia. Genetic variants in the human androgen receptor gene (AR) have been reported to be associated with AGA in Caucasians. Other genes involved with hair loss also have been found. One of them being a gene on chromosome 3 (3q26). A recent genome-wide association study in 296 individuals with male-pattern baldness and 347 controls had carried out and five SNPs on chromosome 20p11 were found to be highly significant association for AGA (rs2180439 combined P = 2.7 x 10(-15)). No interaction was detected with the X-chromosomal androgen receptor locus, suggesting that the 20p11 locus has a role in a yet-to-be-identified androgen-independent pathway. The total number of evaluated patients with androgenic alopecia will be at least 300. All patients will be further grouped as good responders or poor responders to conventional medications, such as topical minoxidil and systemic finasteride. Candidate genes potentially involved in gout and its treatment response will be selected from the published literatures; specifically, two resources of candidate genes will be selected: (i) genes which are known to directly link with androgenic alopecia, and (ii) genes are potentially implicated in particular pathways of androgen/estrogen receptors, metabolism and downstream signals, and genes involved in anti-oxidants or hair growth. The SNP genotyping will be performed by MALDI-TOF Mass Spectrometry. Data analysis will be performed by comparing SNPs allele frequency between good responder and poor responder to conventional medications of patients with androgenic alopecia and further comparing to the allele frequency of SNPs in healthy controls. A functional study will also be done to prove the genetic association.

NCT01227031 Androgenetic Alopecia
MeSH:Alopecia Alopecia Areata
HPO:Alopecia Alopecia of scalp Frontal balding Patchy alopecia



Time Perspective: Prospective

Case Control


There is one SNP

SNPs


1 rs2180439

A recent genome-wide association study in 296 individuals with male-pattern baldness and 347 controls had carried out and five SNPs on chromosome 20p11 were found to be highly significant association for AGA (rs2180439 combined P = 2.7 x 10(-15)).



HPO Nodes


HPO:
HP:0001596: Alopecia
Genes 283
DCAF17 TP63 MBTPS2 IL2RG COL3A1 ALOX12B PORCN KRT83 KRT83 ERCC4 HLCS KRT86 FOXN1 NECTIN1 TNFRSF1B DCLRE1C KRT14 LMNA PNPLA1 DOCK6 RBPJ KRT86 LAMC2 ABCA12 TP63 LAMC2 PRKACA NECTIN4 CHD7 TINF2 FOXP3 LSS TP63 SLC29A3 LAMB3 COL7A1 IRAK1 ZMPSTE24 RBM28 PERP TINF2 LPAR6 SOX18 RECQL4 AHSG RIPK4 IL7R TINF2 SLC39A4 ACVR1 COL18A1 GJB3 ATR IKBKG JUP IL7R RIPK4 PADI3 HRAS RIN2 MMP1 EXOSC2 OFD1 HR HFE KLHL24 CASR LSS CERS3 TERC RBM28 NHP2 GJB2 MBTPS2 ERCC3 FGFR1 TGM1 LIPH AEBP1 ANTXR1 TNFRSF1B DCLRE1C RMRP HLA-DRA KRAS LMNA CD28 FTL CTLA4 COL7A1 KRT81 ANTXR1 WNT10A ERCC2 EBP NOTCH1 HTRA1 RAG2 RPL21 MBTPS2 ADA MBTPS2 KRAS GTF2E2 PARN HR WNT5A PTPN22 KDSR TGM1 TP63 HLA-DRB1 CD28 MBTPS2 USB1 ALX4 ACVR1 DSG4 ITGB6 FZD2 ALMS1 NRAS PLEC OFD1 ABHD5 KRT17 PEX7 RAG2 KRT6B PORCN BTK C1R ROR2 FOXN1 KRT16 HR GJA1 GTF2H5 TARS1 KRT6A CLDN1 RTEL1 COL3A1 DSP KRT81 ARHGAP31 DDB2 SOX18 LAMA3 PLEC LMNA PIK3R1 ABCD1 LMNA BCS1L GJB6 MPLKIP RAG1 BMP2 EPS8L3 ALMS1 GJA1 BTD NXN NIPAL4 HR EDARADD DLL4 STAT4 DMXL2 NFKB2 SLC39A4 NFKB1 NFKB2 HFE RNF113A IL2RA KDM5C SLC30A2 BTNL2 HRAS FGFR1 ITGB4 ZMPSTE24 NPM1 TGM1 DVL3 DKC1 HFE LMNA TP63 SLITRK1 RNU4ATAC UROD DKC1 GJB6 LIG4 DSP RAG1 NRAS UROS FAM111B XPA AIRE KRT74 TRPV3 MGP GJB6 C1QA ERCC5 ECM1 GJB2 MCCC2 MMP1 ECM1 LMNA CSTB PNPLA6 XPC IKBKG LAMA3 AHSG SMARCA2 COL17A1 CLDN1 FLI1 EBP ALOX12B AP1B1 ALOXE3 ZNF341 KRT85 EDNRA KDM5C PKP1 ERCC2 GJB4 TERT NSDHL ZMPSTE24 SPP1 DSP SASH1 AIRE ABHD5 EDAR CTC1 WRAP53 TTC7A WNT10A NOP10 SNRPE ARHGAP31 VDR ERCC3 TERC CTLA4 MBTPS2 TGM3 PARN SNRPE DCAF17 ALX4 GJB2 KRAS UBR1 TRPV3 EOGT DVL1 ALOXE3 HLCS BTD LAMB3 DSG4 STUB1 COL7A1 SOX18 BCS1L VDR APCDD1 GJA1 GNA11 TERT
Protein Mutations 0
SNP 0