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Table 1 Candidate gene and SNP characteristics

From: PGC-1alpha downstream transcription factors NRF-1 and TFAM are genetic modifiers of Huntington disease

Gene

Chromosome

SNPs

Selection Criteria

ESRRA

11q13.1

rs3217060

23 bp microsatellite repeat located in promoter region

MFN2

1p36.22

rs3753579

located in promoter region

NRF-1

7q32.2

rs7781972, rs6949152

previously reported association [29]

   

rs1882094, rs3735006,

non-synonymous SNPs

   

rs10275661, rs10225103, rs10268267, rs6962005, rs10231985, rs11487138, rs11761434, rs1962039, rs2402970, rs6948697, rs10500120

tag SNPs using public databases (dbSNP)

NRF-2

GABPA

21q21.3

rs2829897 (A291V), rs2829898 (W323X), rs2829900 (E345K)

non-synonymous SNPs

 

GABPB1

15q21.2

rs12594956, rs8031031

previously reported association [39]

PPARGC1B

5q33.1

rs7732671 (A164P), rs11959820 (R253S)

non-synonymous SNPs

PPARG

3p25.2

rs1801282 (P12A)

non-synonymous SNP

   

rs2938392, rs3856806

tag SNPs using public databases (dbSNP)

SIRT1

10q21.3

rs3758391, rs7069102

previously reported association [40]

   

rs10997860, rs2273773, rs35461348

tag SNPs using public databases (dbSNP)

TFAM

10q21.1

rs1937 (S12T)

non-synonymous SNP

   

rs4390300, rs10826178, rs1049432, rs11006132

tag SNPs using public databases (dbSNP)