3′-UTR SNP rs2229611 in G6PC1 affects mRNA stability, expression and Glycogen Storage Disease type-Ia risk

S Karthi, M Rajeshwari, A Francis, M Saravanan… - Clinica Chimica …, 2017 - Elsevier
The frequency of rs2229611, previously reported in Chinese, Caucasians, Japanese and
Hispanics, was investigated for the first time in Indian ethnicity. We analyzed its role in the
progression of Glycogen Storage Disease type-Ia (GSD-Ia) and breast cancer. Genotype
data on rs2229611 revealed that the risk of GSD-Ia was higher (P= 0.0195) with CC
compared to TT/TC genotypes, whereas no such correlation was observed with breast
cancer cases. We observed a strong linkage disequilibrium (LD) among rs2229611 and …

3′-UTR SNP rs2229611 in G6PC1 affects mRNA stability, expression and Glycogen Storage Disease type-Ia risk.

SK Sellamuthu Karthi, MR Mohan Rajeshwari… - 2017 - cabidigitallibrary.org
The frequency of rs2229611, previously reported in Chinese, Caucasians, Japanese and
Hispanics, was investigated for the first time in Indian ethnicity. We analyzed its role in the
progression of Glycogen Storage Disease type-Ia (GSD-Ia) and breast cancer. Genotype
data on rs2229611 revealed that the risk of GSD-Ia was higher (P= 0.0195) with CC
compared to TT/TC genotypes, whereas no such correlation was observed with breast
cancer cases. We observed a strong linkage disequilibrium (LD) among rs2229611 and …
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