Otzi was found in 1991 by two German tourists in the Alps on the border of Italy and Austria. Now, an international team has extracted DNA from a bone in his pelvis and sequenced his entire genome.
Dr Albert Zink, the Director of the Iceman Institute in Bolzano, said the information from Oetzi's DNA might shed light on hereditary aspects of diseases like diabetes, caner and hypertension.
"There are key gene mutations that we know are associated with diseases such as cancer and diabetes and we want to see if Oetzi had them or whether they arose more recently," he was quoted by 'The Daily Telegraph' as saying.
The scientists now hope to find Oetzi's living relatives in time for next year's 20th anniversary of his discovery.
"From comparisons based on the mitochondrial DNA we weren't able to find any relatives in the region. But with the entire genome, there's a good chance we might. We're at the start of a big and very exciting project. I think Oetzi is going to provide us with a lot of information," said Dr Zink.
Oetzi was discovered in the snow on 19 September 1991. He was about five feet five inches tall, weighed 9.2 stone and was probably around 45 years old when he died. His remains are currently on display at a museum in Italian town of Bolzano.