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Table 1 Summary of SNP analysis in candidate genes

From: Genetic susceptibility to arsenic-induced skin lesions and health effects: a review

Gene (Reference)b Genotype; OR (95 % CI) p-Value Comments Country (Reference) Genotype; OR (95 % CI) p-Value Comments
In West Bengal Outside West Bengal/India
ERCC2 [38] codon 751 A > C (A/C + C/C)a vs A/A; 4.77(2.75-8.23) <0.0001 The A/A variant (Lys/Lys) of ERCC2 demonstrated a suboptimal level of DNA repair and were significantly associated with arsenic-induced hyperkeratosis. China [65] codon 751 A > C (A/C + C/C)a vs A/A; 2.36 (1.35-4.14) <0.01 Lys demonstrated increased risk of arsenic induced skin lesions among the Chinese population.
IL10 [31] promoter −3575 T > A T/Ta vs (T/A + A/A); 2.03(1.26-3.28) <0.01 TNF-α and IL-10 variants were associated with increased skin lesions as well as overexpression and underexpression of the factors respectively. Bangladesh [66] rs3024496 A > G <0.05 rs3024996 was significantly associated with arsenic induced skin lesions after multiple comparison adjustments
NLRP2 [32] codon 1052 (C > A); 0.67 (0.46-0.97) C/Ca vs (C/A + A/A) <0.05 Presence of minor allele (A) lead to prominent risk towards development of arsenic-induced skin lesions. No Other Studies yet found
TP53 [43] codon 72 (G > C); 2.086 (1.318-3.299) <0.001 Arginine homozygous at codon 72 of p53 showed increased risk to keratosis and higher chromosomal aberration in arsenic-exposed individuals. Taiwan [67] codon 72 (G > C) <0.01 Proline homozygous or heterozygous showed a relative higher risk in renal cell carcinoma, upon arsenic exposure.
PNP [26] codon 20 C > T C/Ca vs (C/T + T/T); 1.69(1.08-2.66) 0.02 PNP variants are significantly associated with arsenic induced dermatological lesions Taiwan [68] codon 57 C > T C/Ca vs (C/T + T/T) 1.50 (1.03-2.18) <0.05 PNP SNP results in a modified and significant risk of carotid artherosclerosis along with either of AS3MT or GSTO1 SNP.
codon 51 G > A G/Ga vs (G/A + A/A); 1.66(1.04-2.64) 0.04
codon 57 C > T C/Ca vs (C/T + T/T); 1.67(1.05-2.66) 0.04
TNF-a [31] promoter −308 G > A G/Ga vs (G/A+ A/A); 3.04(1.78-5.21) <0.001 TNF-α and IL-10 variants were associated with increased skin lesions as well as overexpression and underexpression of the factors respectively. Taiwan [69] promoter −308 G > A <0.05 G/A + G/G (low iAs) had a higher risk of urothelial carcinoma upon arsenic exposure compared to A/A (high iAs) group. OR: 14.98; 95%CI: 2.63-85.44.
XRCC3 [40] codon 241 C > T (C/T + T/T)a vs C/C; 0.45(0.30-0.67) <0.0001 T: Methionine allele showed protective role against dermatological lesions as well as cytogenetic damage. Hungary, Romania, Slovakia [70] codon 241 C > T C/Ca : 1.00 C/T:0.7 (0.54-0.92) T/T:0.54 (0.36-0.8) <0.01 Associated significantly basal cell carcinoma.
  1. a Referent Group
  2. b West Bengal, India Reference; Mean arsenic content in drinking water from West Bengal study population was in the range of 151.74-194.82 μg/L. The WHO recommendation for arsenic through drinking water is 10 μg/L