PMID- 10340440
OWN - NLM
STAT- MEDLINE
DCOM- 19990708
LR  - 20190706
IS  - 0009-8981 (Print)
IS  - 0009-8981 (Linking)
VI  - 282
IP  - 1-2
DP  - 1999 Apr
TI  - The melanocyte stimulating hormone receptor polymorphism: association of the V92M 
      and A294H alleles with basal cell carcinoma.
PG  - 125-34
AB  - Allelic variants in the melanocyte stimulating hormone receptor (MC1R) gene are 
      susceptibility/outcome candidates for cutaneous basal cell carcinoma (BCC). We 
      identified the val92met (V92M) and asp294his (A294H) alleles in 311 cases and 190 
      controls. The cases included four homo- and 53 heterozygotes for V92M and 12 
      heterozygotes for A294H and two compound heterozygotes (V92M/A294H). Allele 
      frequencies were similar in controls. In the cases, we found no association 
      between the alleles and skin type though A294H was more common in those with red 
      hair (4/19) than with other hair colours (6/163) (P = 0.012). V92M was not 
      associated with BCC numbers. Cases with A294H had fewer BCC in comparison with 
      those without the allele though the difference was not significant. After 
      inclusion of red hair in the model, A294H was significantly associated with fewer 
      tumours. While MCIR alleles are attractive candidates for BCC, the variants 
      studied did not influence susceptibility. The association with outcome was 
      relatively weak. The large number of MC1R alleles and their low frequency, make 
      assessment of the importance of this gene in the pathogenesis of skin cancers 
      difficult.
FAU - Jones, F I
AU  - Jones FI
AD  - Clinical Biochemistry Research Group, School of Postgraduate Medicine, Keele 
      University, North Staffordshire Hospital, Stoke-on-Trent, UK.
FAU - Ramachandran, S
AU  - Ramachandran S
FAU - Lear, J
AU  - Lear J
FAU - Smith, A
AU  - Smith A
FAU - Bowers, B
AU  - Bowers B
FAU - Ollier, W E
AU  - Ollier WE
FAU - Jones, P
AU  - Jones P
FAU - Fryer, A A
AU  - Fryer AA
FAU - Strange, R C
AU  - Strange RC
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Netherlands
TA  - Clin Chim Acta
JT  - Clinica chimica acta; international journal of clinical chemistry
JID - 1302422
RN  - 0 (Receptors, Pituitary Hormone)
RN  - 810S9KV11R (MSH receptor)
SB  - IM
MH  - Alleles
MH  - Carcinoma, Basal Cell/*genetics
MH  - Case-Control Studies
MH  - Female
MH  - Hair Color/genetics
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Phenotype
MH  - *Polymorphism, Genetic
MH  - Receptors, Pituitary Hormone/*genetics
MH  - Skin/pathology
MH  - Skin Neoplasms/*genetics/pathology
EDAT- 1999/05/26 00:00
MHDA- 1999/05/26 00:01
CRDT- 1999/05/26 00:00
PHST- 1999/05/26 00:00 [pubmed]
PHST- 1999/05/26 00:01 [medline]
PHST- 1999/05/26 00:00 [entrez]
AID - S0009-8981(99)00017-0 [pii]
AID - 10.1016/s0009-8981(99)00017-0 [doi]
PST - ppublish
SO  - Clin Chim Acta. 1999 Apr;282(1-2):125-34. doi: 10.1016/s0009-8981(99)00017-0.