Distribution of Huntington’s disease Haplogroups in Indian population

Huntington’s disease (HD), a rare neurodegenerative disorder, is inherited in an autosomal dominant manner, and caused by a pathological trinucleotide expansion at exon1 of the HTT locus. Previous studies have described the haplogroups at the HTT locus that can explain the differences in prevalence of HD. We have selected three informative SNPs (rs762855, rs3856973 and rs4690073) to study these haplogroups in an Indian sample. Our results show that the genotype frequencies are significantly different between cases and controls for these SNPs. More than 90% of both cases and controls belong to Haplogroup A which is the predominant European haplogroup.

[1]  S. Söderberg,et al.  High frequency of intermediary alleles in the HTT gene in Northern Sweden - The Swedish Huntingtin Alleles and Phenotype (SHAPE) study , 2020, Scientific Reports.

[2]  C. Gellera,et al.  Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population , 2020, Neurological Sciences.

[3]  R. Roos,et al.  Prevalence of Carriers of Intermediate and Pathological Polyglutamine Disease-Associated Alleles Among Large Population-Based Cohorts. , 2019, JAMA neurology.

[4]  S. Tishkoff,et al.  The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population , 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[5]  L. Agostinho,et al.  REVIEW-ARTICLE Intermediate alleles of Huntington's disease HTT gene in different populations worldwide: a systematic review. , 2017, Genetics and molecular research : GMR.

[6]  M. Hayden,et al.  Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes , 2013, European Journal of Human Genetics.

[7]  I. Kanazawa,et al.  HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia , 2011, European Journal of Human Genetics.

[8]  Thomas J Hudson,et al.  CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup. , 2009, American journal of human genetics.

[9]  D. Brock,et al.  A new polymerase chain reaction (PCR) assay for the trinucleotide repeat that is unstable and expanded on Huntington's disease chromosomes. , 1993, Molecular and cellular probes.