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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 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 281
CLDN1 NFKB2 GTF2H5 TGM1 ANTXR1 KRAS ERCC2 KRT81 ARHGAP31 RIPK4 RECQL4 MBTPS2 LIG4 NFKB1 PORCN LMNA TP63 CSTB TARS1 NXN KDM5C AHSG MCCC2 ERCC2 FGFR1 LAMA3 KRT83 PKP1 UROS NOP10 UROD TNFRSF1B VDR TP63 NSDHL MBTPS2 GJB6 NHP2 GJB6 FZD2 MBTPS2 LIPH STAT4 WNT10A MBTPS2 TERC KRAS KDSR KRT81 GJB4 GJA1 PARN RNF113A COL7A1 EPS8L3 ERCC4 RBM28 PADI3 KRT17 USB1 CERS3 TRPV3 TINF2 SLC39A4 ALX4 FOXN1 PORCN RAG2 TERT BCS1L ACVR1 BMP2 BTD ROR2 BTD LSS ABHD5 NECTIN1 ZNF341 SMARCA2 HLCS KDM5C PNPLA6 RBPJ NPM1 CLDN1 HR AP1B1 HLCS IKBKG EXOSC2 PERP ALMS1 KRT6A PLEC KRAS KRT14 DCAF17 ZMPSTE24 TNFRSF1B TP63 IL2RG CTLA4 SLC39A4 CD28 NRAS ECM1 PNPLA1 MGP KRT74 COL7A1 BCS1L SLC29A3 MBTPS2 NRAS MMP1 LMNA GJB2 FGFR1 LAMC2 COL3A1 SLITRK1 KRT6B VDR KRT16 NIPAL4 GJB6 ITGB4 SOX18 SLC30A2 PARN PTPN22 GNA11 FAM111B RAG1 HFE DVL3 GJB2 KRT86 AIRE DSG4 LMNA SNRPE LAMB3 ITGB6 MPLKIP TERC ABCA12 CASR OFD1 ZMPSTE24 COL18A1 LMNA KLHL24 SNRPE RPL21 FOXP3 ALX4 CTC1 GJA1 WNT5A ABCD1 TRPV3 NOTCH1 KRT83 APCDD1 JUP C1R DOCK6 ANTXR1 HRAS CTLA4 DSG4 DCLRE1C RNU4ATAC HR IL7R STUB1 WNT10A RBM28 DCAF17 TTC7A LSS FLI1 RAG1 COL17A1 RTEL1 ALMS1 SPP1 HRAS ERCC3 EDAR GJB3 ALOXE3 IL7R OFD1 TP63 GJB2 HFE AIRE EBP RIPK4 DCLRE1C RIN2 IL2RA HLA-DRB1 KRT85 NECTIN4 ERCC5 LAMA3 EDNRA HFE AHSG LPAR6 PLEC PEX7 TINF2 EOGT GJA1 UBR1 LAMC2 PRKACA CHD7 ACVR1 TGM3 FOXN1 ALOX12B ALOX12B DSP HLA-DRA PIK3R1 GTF2E2 C1QA DVL1 LMNA WRAP53 ZMPSTE24 HR XPA BTK TINF2 DKC1 CD28 DKC1 ARHGAP31 RAG2 IRAK1 DDB2 ECM1 SASH1 KRT86 BTNL2 DSP ABHD5 ATR TGM1 SOX18 ADA DLL4 SOX18 TP63 LMNA MMP1 COL7A1 FTL XPC ERCC3 COL3A1 EBP HTRA1 LAMB3 HR TGM1 RMRP MBTPS2 IKBKG TERT DSP ALOXE3 NFKB2 EDARADD
Alopecia areata
Genes 5
HR TGM3 KDM5C PADI3 KDM5C
Alopecia of scalp
Genes 26
CLDN1 ITGB4 PLEC KRT14 GTF2H5 MBTPS2 ERCC2 TTC7A COL17A1 MPLKIP TARS1 ECM1 RNF113A COL7A1 ERCC3 KLHL24 LAMA3 GJB2 MMP1 GTF2E2 LAMC2 LAMB3 TP63 SLC39A4 EBP COL3A1
Frontal balding
Genes 4
WNT4 CNBP NR3C1 DMPK