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Table 1 SNPs in the TTR gene and the surrounding regions with polymorphisms present in the analysed Swedish samples.

From: A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers

   

Minor allele (frequency)

dsSNP ID

Location NM_000371.3 (HGVS)

Location

Controls

V30M Carriers

P-valuea

rs3764478

c.-136-1247G > T

5'upstream

T (0.09)

T (0.07)

 

rs71383038

c.-136-1097_-1096delCA

5'upstream

CA9 (0.31)

CA9 (0.17)

0.0034

rs72922940

c.-136-1032A > G

5'upstream

G (0.07)

G (0.05)

 

rs3764477

c.-136-1021G > A

5'upstream

A (0.00)

A (0.01)

 

rs58616646

c.-136-1000C > T

5'upstream

T (0.00)

T (0.01)

 

*

c.-136-697C > T

5'upstream

T (0.03)

T (0.01)

 

rs3794885

c.-136-607A > T

5'upstream

T (0.32)

T (0.18)

0.0041

*

c.-136-546G > A

5'upstream

A (0.02)

A (0.03)

 

rs723744

c.70-383G > T

intronic

T (0.31)

T (0.19)

 

rs1800458

c.76G > A, p.G26R

exon 2

A (0.04)

A (0.02)

 

rs28933979

c.148G > T, p.V50 M (V30M)

exon 2

G (0.00)

G (0.51)

 

rs1080093

c.200+691C > G

intronic

G (0.31)

G (0.20)

 

rs1080094

c.200+806A > G

intronic

G (0.30)

G (0.20)

 

rs3764476

c.336+1242C > A

intronic

A (0.30)

A (0.20)

 

ENSSNP11324634

c.336+1432A > G

intronic

G (0.00)

G (0.01)

 

rs7235277

c.336+1655G > C

intronic

C (0.37)

C (0.18)

 

rs3794884

c.337-1560T > G

intronic

G (0.31)

G (0.19)

 

rs36204272

c.337-18G > C

intronic

C (0.00)

C (0.01)

 

rs62093482

c.*261C > T

3'UTR

T (0.04)

C (0.48)

< 0.0001b

  1. SNPs with significant differences in allele frequencies between V30M carriers and controls are shown in bold. Previously not reported polymorphisms are marked with a star (*). a P-value ≤0.05 were considered statistical significant. P-value calculated by Fisher exact probability test. b P-value significant after Bonferroni correction (P-value ≤0.003).
  2. For sixteen SNPs only the wt allele were detected in the Swedish material, these are not included in the table: rs3794886, rs16962206, rs1551005, rs9304103, rs7231173, rs17740912, rs58272364, rs13381331, rs1791225, rs10707844, rs1667250, rs1791226, rs1791227, rs1667251, rs1061978, rs11541783.