SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT01227031

Developed by Shray Alag, 2019.
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 areata Alopecia of scalp Frontal balding



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:
Alopecia
Genes 172
RPL21 COL3A1 HFE KRAS FOXN1 UBR1 RAG1 COL5A1 FLI1 RAG2 KRT6A COL7A1 KRT6B NIPAL4 KLHL24 SLC29A3 ERCC2 KRT14 HTRA1 ERCC3 EOGT ERCC4 ERCC5 COL17A1 KRT16 ZMPSTE24 NRAS KRT17 OFD1 ATR STUB1 USB1 APCDD1 RTEL1 DLL4 DSP CTC1 ABCA12 KRT74 KRT81 GJB4 KRT83 KDM5C HLA-DRA WNT5A HLA-DRB1 KRT85 GJB6 KRT86 ROR2 RNF113A DVL1 DVL3 IKBKG HLCS LAMA3 AIRE PEX7 PORCN SOX18 LAMB3 CASR LAMC2 SLC39A4 PTPN22 XPA CHD7 XPC RIPK4 MCCC2 ACVR1 RBM28 WRAP53 NHP2 ADA TERC ECM1 TERT NXN BCS1L DDB2 ITGB4 EXOSC2 ITGB6 SLITRK1 ALX4 CLDN1 EDNRA RNU4ATAC FAM111B NSDHL TTC7A RMRP GJA1 TGM1 LIG4 TGM3 JUP GTF2E2 GJB2 GJB3 ABHD5 PNPLA6 PNPLA1 MBTPS2 LMNA MGP ALMS1 EDAR TINF2 DCLRE1C ZNF341 ARHGAP31 CD28 LIPH BTD PIK3R1 LPAR6 TP63 EDARADD BTNL2 RIN2 NFKB1 BTK NFKB2 CERS3 RECQL4 EBP NECTIN1 RBPJ PRKACA HRAS DCAF17 SMARCA2 AHSG PKP1 MPLKIP GTF2H5 NECTIN4 WNT10A DKC1 ANTXR1 GNA11 LSS ALOXE3 FTL TRPV3 PARN NOP10 DSG4 FGFR1 CTLA4 ABCD1 EPS8L3 MMP1 PLEC TNFRSF1B UROD UROS KDSR DOCK6 FZD2 IL2RA IL2RG SNRPE ALOX12B NOTCH1 PADI3 IL7R VDR HR FOXP3
Alopecia areata
Genes 4
KDM5C PADI3 TGM3 HR
Alopecia of scalp
Genes 25
COL3A1 TTC7A LAMA3 MPLKIP GTF2H5 LAMB3 COL7A1 LAMC2 SLC39A4 KLHL24 GTF2E2 GJB2 ERCC2 KRT14 ERCC3 MMP1 PLEC COL17A1 MBTPS2 ECM1 ITGB4 TP63 CLDN1 RNF113A EBP
Frontal balding
Genes 4
DMPK CNBP WNT4 NR3C1