Genome-wide association study of Parkinson’s disease using MAX3 test

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Georgii Ozhegov1, Dmitry Poverin2, Sergey Medvedev3, Suren Zakian4, Yuri Vyatkin5, Sergey Postovalov6
1Kazan Federal University, Kazan, Russia; Novel Software Systems, Ltd., Novosibirsk, Russia, georgii_provisor@mail.ru
2Novosibirsk State Technical University, Novosibirsk, Russia, foxlandg@gmail.com
3Federal Research Center Institute of Cytology and Genetics, Novosibirsk, Russia, medvedev@bionet.nsc.ru
4Federal Research Center Institute of Cytology and Genetics, Novosibirsk, Russia, zakian@bionet.nsc.ru
5Novosibirsk State University, Novosibirsk, Russia; Novel Software Systems, Ltd., Novosibirsk, Russia, yuri@nprog.ru
6Novosibirsk State Technical University, Novosibirsk, Russia; Novosibirsk State University, Novosibirsk, Russia, postovalovsn@gmail.com

Whole exomes for a set of patients with Parkinson’s disease (PD) were sequenced to conduct a genome-wide association study (GWAS) using MAX3 test to find novel genomic variants associated with the disease. As a result, several new variants were identified.

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Sizentsova Yana
Sizentsova Yana
4 years ago

Looks quite very interesting… I have a few questions. The first question is how correct is it to use the germline cells to look for the SNPs associated with neurogenerative diseases like Parkinson’s disease? The second is where are SNPs that you found as associated with PD located inside KCNJ12 (introns, exons or promoter, I mean)? And could you say that “the change of KCNJ12 protein could be involved in PD…” means?

Georgii Ozhegov
Georgii Ozhegov
4 years ago

Thanks for interesting qustions!
We used blood to extract DNA from it, cause it easy to find some first signs. It will be better to used subsantia nigra tissue, but we will take only “post mortem”. So we don’t have opportunities nowadays to find somatic SNPs exactly in brain tissues. Beside this progression of PD starts for decades before first clinical trail and peoples with PD-diagnosis very often has family history. Thats why we check germline SNPs first.
All 3 SNPs marked as probably associated with PD were missense and located in exons.
“the change of KCNJ12 protein could be involved in PD…” means that we found some literature, that make some connection between KCNJ12 and PD. Also KCNJ12 have expression in brain tissuies. And alteration in potassium canals could be involved in neural cells death.

Yana Sizentsova
Yana Sizentsova
4 years ago

Oh, I see. Thank you for the answers!

Brenda Ann Touchet
Brenda Ann Touchet
2 years ago

I was diagnosed 2 years ago at age 63. Symptoms were tremor in right leg, loss of handwriting ability,My normally beautiful cursive writing was now small cramped printing and soft voice. I also had difficulty rising from a seated position and have balance issues. I started out taking only Azilect, then Mirapex, and then Sinemet. Several months ago I started falling frequently, hence the reason for Sinemet. During the summer of 2021, I was introduced to Health Herbs Clinic and their effective Parkinson’s herbal protocol. This protocol relieved symptoms significantly, even better than the medications I was given. Visit www . healthherbsclinic . com , After First month on treatment, my tremors mysterious stopped, had improvement walking. After I completed the treatment, all symptoms were gone. I live a more productive life. I was fortunate to have the loving support of my husband and family. I make it a point to appreciate every day!

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Catherine Roberta
1 year ago

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6 months ago

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