The length of the CAG repeat tract is the major determinant of age of onset (AO) of Huntington's Disease (HD) However, there remains a signiicant variance in AO when the expanded repeat size is ruled out. The search for genetic modiiers has revealed various candidate loci; however, many reports have been contradictory. The N-methyl-d-aspartate receptors (NMDAR) have been proposed as an important putative modiier. We aimed to determine whether polymorphisms in NMDAR-coding genes have an efect on the AO. We analyzed the association between GRIN1 (rs6293), GRIN2A (rs1969060), and GRIN2B (rs1806201, rs890) polymorphisms and AO of Turkish HD patients. According to our indings, expanded CAG repeat size explains 41.8% of the variance in AO. Upon classiication of genotypes into CAG repeat length intervals, rs6293 can be considered as an AO modiier for Turkish HD patients with 50 or higher CAG repeats. In addition to that, we found a signiicant association of this polymorphism to HD, with the GG genotype constituting a risk factor. Candidate genetic modiiers should be tested in diferent populations since their efects may exist only in groups of speciic ethnic origins. Deining such modiiers will help in complete understanding of HD pathogenesis and in designing therapeutic targets.
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