3'-UTR SNP rs2229611 in G6PC1 affects mRNA stability, expression and Glycogen Storage Disease type-Ia risk.
- Sellamuthu Karthi,
- Mohan Rajeshwari,
- Amirtharaj Francis,
- Matheshwaran Saravanan,
- Perumal Varalakshmi,
- Henry Houlden,
- Kumarasamy Thangaraj,
- Balasubramaniem Ashokkumar
Clin Chim Acta 2017 May 11;471:46-54. Epub 2017 May 11.
Department of Genetic Engineering, School of Biotechnology, Madurai Kamaraj University, Madurai, India. Electronic address:
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. Read More