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. 2010 Nov 15;5(11):e13967. doi: 10.1371/journal.pone.0013967

Table 5. Conditional logistic regression analysis including effects of the two-marker haplotype SNPs (rs12970134, rs1943229), the two coding polymorphisms (weight lowering effect: Val103Ile, Ile251Leu) and any other functionally relevant obesity MC4R mutations.

regression modela non-synonymous MC4R polymorphisms (Val103Ile and Ile251Leu) whose major (wild-type) alleles are associated with obesityb (787 obesity trios) functionally relevant obesity MC4R mutationsc (525 obesity trios)
obesity effect allele RR for effect allele 95% CI for RR for effect allele p-value obesity effect allele RR for effect allele 95% CI for RR for effect allele p-value
model 1 rs12970134 A 1.45 1.21–1.73 4.5×10−5 A 1.55 1.24–1.92 8.9×10−5
rs1943229 G 1.23 1.01–1.52 0.042 G 1.32 1.04–1.68 0.024
model 2 MC4R coding region variant collapsed Val103Ile and Ile251Leu wild-type allele 1.66 1.04–2.63 0.032 collapsed Val103Ile and Ile251Leu wild-type allele 1.48 0.85–2.57 0.170
collapsed functionally relevant obesity mutationsc mutated allele 2.57 1.07–6.15 0.034
model 3 rs12970134 A 1.43 1.20–1.71 7.9×10−5 A 1.52 1.22–1.90 1.8×10−4
rs1943229 G 1.24 1.01–1.51 0.042 G 1.30 1.02–1.65 0.037
MC4R coding region variant collapsed Val103Ile and Ile251Leu wild-type allele 1.54 0.96–2.48 0.073 collapsed Val103Ile and Ile251Leu wild-type allele 1.37 0.77–2.45 0.290
collapsed functionally relevant obesity mutationsc mutated allele 2.91 1.05–8.09 0.041
a

model 1 included rs12970134, rs1943229 whereas model 2 included either the non-synonymous MC4R polymorphisms (Val103Ile and Ile251Leu) (left and right panel) or the functionally relevant obesity MC4R mutations (right panel) as one explanatory variables; in model 3, both rs12970134, rs1943229 and the coding variants were included;

b

wild-type alleles at the non-synonymous MC4R polymorphisms (Val103Ile and Ile251Leu) were combined into one covariable; c mutation alleles Ser30Phe, [Tyr35Stop; 110A>T], Pro78Leu, Ser94Arg, Thr112Met, Ile121Thr, Ser127Leu, Arg165Trp, Ala175Thr, Gly181Asp, Met200Val, Ala244Glu, L211fsX216, Ile317Thr were combined into one covariable; the 525 obesity trios are a subset of all 787 trios for which information on functionally relevant obesity MC4R mutations were available.