TY - JOUR
T1 - SRD5A2 gene polymorphisms affect the risk of breast cancer
AU - Francis, Amirtharaj
AU - Sarkar, Saumya
AU - Pooja, Singh
AU - Surekha, Daminani
AU - Rao, Digumarthi Raghunatha
AU - Rao, Lakshmi
AU - Ramachandra, Lingadakai
AU - Vishnupriya, Satti
AU - Satyamoorthy, Kapaettu
AU - Thangaraj, Kumarasamy
AU - Rajender, Singh
PY - 2014
Y1 - 2014
N2 - Androgens in breast cancer have been studied alone and in correlation with estrogens as estrogen to testosterone ratio. 5-α-reductase is one of the important enzymes participating in androgen metabolism, which affects androgen activity by affecting conversion of testosterone to dihydrotestosterone. We hypothesized that polymorphisms in the SRD5A2 gene (encoding 5-α-reductase) may affect breast cancer risk by affecting total androgen activity. Complete coding region of the SRD5A2 gene was sequenced in a group of 628 patients and 244 control samples from three southern states (Tamil Nadu, Andhra Pradesh, and Karnataka) of India. We observed three common polymorphisms in this gene namely, A49T, V89L, and (TA)n repeats. A49T locus was monomorphic in the study population, but V89L showed a strong correlation with breast cancer (P=0.03, OR=1.40, CI=1.02-1.91). (TA)0/(TA)9 and (TA)9/(TA)9 genotypes were at a lower risk of breast cancer (P=0.01, OR=0.64, CI=0.46-0.90). We conclude that SRD5A2 genotypes significantly affect breast cancer risk in the South Indian populations.
AB - Androgens in breast cancer have been studied alone and in correlation with estrogens as estrogen to testosterone ratio. 5-α-reductase is one of the important enzymes participating in androgen metabolism, which affects androgen activity by affecting conversion of testosterone to dihydrotestosterone. We hypothesized that polymorphisms in the SRD5A2 gene (encoding 5-α-reductase) may affect breast cancer risk by affecting total androgen activity. Complete coding region of the SRD5A2 gene was sequenced in a group of 628 patients and 244 control samples from three southern states (Tamil Nadu, Andhra Pradesh, and Karnataka) of India. We observed three common polymorphisms in this gene namely, A49T, V89L, and (TA)n repeats. A49T locus was monomorphic in the study population, but V89L showed a strong correlation with breast cancer (P=0.03, OR=1.40, CI=1.02-1.91). (TA)0/(TA)9 and (TA)9/(TA)9 genotypes were at a lower risk of breast cancer (P=0.01, OR=0.64, CI=0.46-0.90). We conclude that SRD5A2 genotypes significantly affect breast cancer risk in the South Indian populations.
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U2 - 10.1016/j.breast.2013.11.010
DO - 10.1016/j.breast.2013.11.010
M3 - Article
C2 - 24365257
AN - SCOPUS:84895498472
SN - 0960-9776
VL - 23
SP - 137
EP - 141
JO - Breast
JF - Breast
IS - 2
ER -
