Eight different single-nucleotide polymorphisms (SNPs) in six different genes were investigated for possible association with breast cancer. We used a case -control study design in two Caucasian populations, one from Tyrol, Austria, and the other from Prague, Czech Republic. Two SNPs showed an association with breast cancer: R72P inTP53 and P187S in NQO1. Six SNPs, Q356R and P871L in BRCA1, N372H in BRCA2, C112R (E4) and R158C (E2) in ApoE and C825T in GNB3, did not show any sign of association. The P187S polymorphism in NQO1 was associated with breast cancer in both populations from Tyrol and Prague with a higher risk for carriers of the 187S allele. Combining the results of the two populations, we observed a highly significant difference (P ¼ 0.0004) of genotype and allele frequencies (odds ratio (OR) ¼ 1.46; 95% confidence interval (CI) 1.16 -1.85; P ¼ 0.001) and of the homozygote ratio (OR ¼ 3.8; 95% CI 1.73 -8.34; P ¼ 0.0001). Combining the two 'candidate' SNPs (P187S and R72P) revealed an increased risk for breast cancer of double heterozygotes (P187S/R72P) of the NQO1 and TP53 genes (OR ¼ 1.88; 95% CI 1.13 -3.15; P ¼ 0.011), suggesting a possible interaction of these two loci.

Smith-Lemli-Opitz syndrome/RSH (SLOS) is

In man, apolipoprotein A-IV is characterized by a genetically determined polymorphism controlled by two codominant alleles. Two isoforms of this apolipoprotein, designated A-IV-1 and A-IV-2, can be identified by isoelectric focusing. Among 1000 healthy factory workers participating in an epidemiological study, A-IV-1 (genotype 1-1) was observed in 85%; A-IV-2 (genotype 2-2), in 0.5%; and A-IV-1 in combination with A-IV-2 (genotype 1-2), in 14%. In four nonrelated subjects, an apolipoprotein A-IV variant (A-IV-Münster), characterized by a slightly more basic isoelectric focusing behavior than A-IV-2, was detected in combination either with A-IV-1 or A-IV-2. Mendelian inheritance of this variant could be demonstrated.

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