Zeitschrift für Down-Syndrom und Chromosomenanomalien
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ISSN: 2472-1115
ISSN: 2472-1115
Maryam Zain, Fazli Rabbi Awan and Shahid Mahmood Baig
The Catechol-O-Methyl Transferase (COMT) gene polymorphism (I/D of C nucleotide at base position 900) has been previously associated in the brain disorders and inflammatory reactions but some studies also showed its presence in the development of type 2 diabetes (T2D) and kidney disease. So, the present study aimed to find association of I/D polymorphism with T2D, and its associated factors like family history and nephropathy (End Stage Renal Disease, ESRD) patients in a small group of Pakistani Punjabis.
The results identified a significant (p=0.02) correlation of the 900 I/D C polymorphism with family history of diabetes, as it was found that greater number (74%) of patients having I allele had a positive family history of T2D. This has not been previously reported in Pakistani Punjabi population; however, this preliminary finding requires further validation studies.