Modulation of age at onset in Huntington's disease and spinocerebellar ataxia type 2 patients originated from eastern India.
To identify the genetic modifier(s) that might alter the age at onset in Huntington's disease (HD) we have analyzed variations in GluR6 kainate receptor (GluR6), CA150 gene, Delta2642 and polymorphic CCG repeat variation in huntingtin (htt) gene in 77 HD patients and normal individuals. In addition, variation in the RAI1 gene was analyzed in 30 spinocerebellar ataxia (SCA2) patients and normal individuals to show the possible influence on the age at onset. Multiple regression analysis indicated that variation in GluR6 and CCG repeat genotype might explain 6.2% and 3.1%, respectively, of the variability in the age at onset in HD. Similar analysis with SCA2 patients indicated that RAI1 might explain about 13% of the variability in the age at onset. Specific alleles in GluR6 and CA150 locus were only observed in HD patients.
Chattopadhyay
Biswanath
B
Crystallography and Molecular Biology Division, Saha Institute of Nuclear Physics, 1/AF Bidhan Nagar, Kolkata 700 064, India.
Ghosh
Subho
S
Gangopadhyay
Prasanta K
PK
Das
Shaymal K
SK
Roy
T
T
Sinha
Krishna K
KK
Jha
Dilip K
DK
Mukherjee
Subhash C
SC
Chakraborty
Ambar
A
Singhal
Bhim S
BS
Bhattacharya
Anup K
AK
Bhattacharyya
Nitai P
NP
D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D016022:Case-Control Studies; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D006816:Huntington Disease / Q000453:epidemiology* / Q000235:genetics; D007194:India / Q000453:epidemiology; D016014:Linear Models; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D018092:Kainic Acid Receptors / Q000235:genetics; D020754:Spinocerebellar Ataxias / Q000453:epidemiology* / Q000235:genetics; D015534:Trans-Activators / Q000235:genetics; D035602:Transcriptional Elongation Factors; D018911:Trinucleotide Repeats / Q000235:genetics; D000097806:GluK2 Kainate Receptor
D018092:Kainic Acid Receptors; D015534:Trans-Activators; D035602:Transcriptional Elongation Factors; D000097806:GluK2 Kainate Receptor; C108440:TCERG1 protein, human