Use of pyrosequencing to detect clinically relevant polymorphisms of genes in basal cell carcinoma.
BACKGROUND
Pyrosequencing is a new method to detect single nucleotide polymorphisms (SNPs). Basal cell carcinoma (BCC) is one of the most common neoplasms in the world, and its incidence has been increasing worldwide in recent years. BCC is caused by an interplay between genetic and environment factors.


METHODS
Pyrosequencing and restrict fragment length polymorphism (RFLP) were used in the study. We conducted a case-control association study in BCC cases and controls from Sweden. For SNPs in IL-6, IL-10 and IL-1beta, 241 cases were at the age of 27-70 years (mean 50 years) and 260 healthy controls were 26-71 years (mean 48 years), 241 cases were 27-70 years (mean 50 years) and 574 healthy controls were 22-74 years (mean 52 years) for cyclin D1 G870A, 197 cases were 29-69 years (mean 47 years) and 574 healthy controls were 22-74 years (mean 52 years) for MTHFR C677T and A1298C. Nine SNPs for IL-6-174G/C, -634G/C and -597G/A; IL-10-1082G/A and -592C/A; IL-1beta-511C/T; cyclin D1 G870A; MTHFR C677T and A1298C were analyzed.


RESULTS
Most genotype distributions were in accordance with Hardy-Weinberg equilibrium (HWE), except IL-10-1082G/A, which had a significantly deviation from HWE in BCC cases (P<0.05). Linkage disequilibrium was observed between the -174 and -597 alleles in the IL-6 gene in the studied populations. The differences for cyclin D1 G870A and methylenetetrahydrofolate reductase (MTHFR) C677T were found between BCC cases group and control group (P<0.05, OR=1.34, 95% CI, 1.00-1.74; P<0.05, OR=1.67, 95% CI, 1.13-2.47, respectively).


CONCLUSIONS
Cyclin D1 G870A and MTHFR C677T were associated with BC cases from Sweden, the other SNPs studied here were not associated with BCC, but chance cannot be excluded.
Zhang
Zhenzhong
Z
Pharmacy school, Zhengzhou University, Daxue Road 40, Zhengzhou, Henan, China. huangquanyong2003@yahoo.com
Liu
Wei
W
Jia
Xin
X
Gao
Yan
Y
Hemminki
Kari
K
Lindholm
Bengt
B
D000328:Adult; D000368:Aged; D002280:Basal Cell Carcinoma / Q000175:diagnosis / Q000235:genetics*; D015331:Cohort Studies; D019938:Cyclin D1 / Q000235:genetics; D017931:DNA Primers; D005260:Female; D006801:Humans; D007375:Interleukin-1 / Q000235:genetics; D016753:Interleukin-10 / Q000235:genetics; D015850:Interleukin-6 / Q000235:genetics; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012680:Sensitivity and Specificity; D017422:Sequence Analysis, DNA; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics*
D017931:DNA Primers; D007375:Interleukin-1; D015850:Interleukin-6; D016753:Interleukin-10; D019938:Cyclin D1; D042965:Methylenetetrahydrofolate Reductase (NADPH2)