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Table 1 SNP characteristics and population

From: Association of single nucleotide polymorphisms in the genes ATM, GSTP1, SOD2, TGFB1, XPD and XRCC1 with risk of severe erythema after breast conserving radiotherapy

Gene

rs no.

SNP a

Codon/ position

Change inamino acid

Function of gene product

Primers

Relative excess heterozygosity (95% confidence interval)

p-value HWE b

ATM

rs1801516

G/A

1853

Asp > Asn

DNA repair

---

---

0.802 (0.350 – 1.861)

0.842

GSTP1

rs1695

A/G

105

Val > Isol

ROS pathway

5′-ACCCCAGGG CTCTATGGGAA-3′

5′-TGAGGGCACA AGAAGCCCCT-3′

1.104 (0.670 – 1.815)

0.924

SOD2

rs4880

C/T

16

Ala > Val

ROS pathway

---

---

1.798 (1.130 – 2.849)

0.037

TGFB1

rs1800469

C/T

pos.509

–

Pro-fibrotic cytokine

5′-CAGACTTCTAGA GACTGTCAG-3′

5′-GTCACCAGA GAAAGAGGAC-3′

0.993 (0.640 – 1.549)

0.987

XPD

rs13181

A/C

751

Lys > Gln

DNA repair

---

---

1.030 (0.640 – 1.656)

0.987

XRCC1

rs25487

G/A

399

Arg > Gln

DNA repair

5′-TTGTGCTTTC TCTGTGTCCA-3′

5′-TCCTCCAGCC TTTTCTGATA-3′

0.735 (0.460 – 1.164)

0.424

  1. a major allele / minor allele.
  2. b p-value of the exact Hardy-Weinberg equilibrium lack of fit test.