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. 2011 Sep 6;64(3):168–174. doi: 10.5173/ceju.2011.03.art17

Table 5.

Genotypes and allele frequencies of the A148T allele in different populations

Geographic origin Study population Genotype Frequency of A148T gene CDKN2A polymorphism Reference
1. North-Western Italy Melanoma families n = 14 5/14 (35.7%) Chiorzo et al. (1999) [22]
2. French and Italian population Italian melanoma patients n = 119




Italian controls n = 121




French melanoma patients n = 500




French controls n = 143

A/A
G/A
G/G


A/A
G/A
G/G


A/A
G/A
G/G


A/A
G/A
G/G
6.72%
1 (0.84%)
14 (11.76%)
104 (87.40%)

6.2%
1 (0.83%)
13(10.74%)
107 (88.43%)

3.4%
1 (0.2%)
32 (6.4%)
467 (93.4%)

4.2%
0 (0.0%)
12 (8.4%)
131 (91.6%)
Spica et al. (2006) [24]
3. UK Atypical nevus/Familial melanoma n = 488


Population-based sample n = 599
A/A
G/A
G/G


A/A
G/A
G/G
0/488 (0.0%)
24/488 (4.9%)
464/488 (93.0%)


0/599 (0.0%)
31/599 (5.2%)
568/599 (94.8%)
Bertram et al. (2002) [23]
4. Sweden Hereditary melanoma n = 108 9.3% in patients sample Erlandson et al. (2007) [25]
5. Spain Patients with more than one primary cutaneous melanoma n = 104
Spanish controls n = 110
13.40%
5.45%
Puig et al. (2005) [26]
6. Spain Breast cancer and cutaneous melanoma n = 31 2/31 (6.4%) Nagore et al. (2009) [27]
7. Poland Larynx cancer n = 390 17/390 (4.4%) Kiwerska et al. (2007) [28]
8. Sweden (Stockholm County) Bladder cancer n = 167 10/167 (6%) Sakano et al. (2003) [29]