Population



|Population |Number of |Age (y.) |BMI (kg/m2) |Sex ratio male/female |

| |individuals | | | |

|Obese children |615 |11.22 ±3.11 |28.40 ±6.67 |304/311 |

|class 1 & 2 obese adults |627 |48.4 ±14.2 |33.8 ±3.6 |357/270 |

|class 3 obese adults |694 |45.8 ±12.0 |47.4 ±7.4 |518/176 |

|Control |1299 |52.88 ±6.04 |23.44 ±1.98 |521/778 |

Supplementary Table 1 | Description of the French cohorts used in the study.

|Gene |SNP |SNP description |Chromosome position|Gene position |SNP change |AA change |Frequency |

| | | | | | | |MAF * |

|BBS1 |  |  |  |  |  |  |  |

|  |rs4542420 |C>G -521ATG |66,034,186 |5' |c>g |  |0.22 |

|  |rs1791688 |C>G -72ATG |66,034,635 |5' |c>g |  |< 0.05 |

|  |rs1671062 |IVS3 C>T -339 |66,038,114 |intron 3 |c>t |  |0.4 |

|  |rs2298806 |L126L |66,038,671 |exon 4 |g>a |L>L |0.22 |

|  |rs10896125 |IVS8 C>G -8 |66,045,309 |intron 8 |c>g |  |0.22 |

|  |rs3819247 |IVS12 A>G +116 |66,050,355 |intron 12 |a>g |  |0.22 |

|  |rs3816492 |L471L |66,053,939 |exon 14 |c>t |L>L |0.22 |

|  |rs2305532 |IVS15 C>T +95 |66,055,170 |intron 15 |c>t |  |0.22 |

|  |rs2305533 |IVS15 A>C +124 |66,055,199 |intron 15 |a>c |  |0.22 |

|  |rs8432 |C>T +7 TGA |66,056,091 |3' |c>t |  |0.4 |

|  |rs3741360 |A>G +840 TGA |66,056,924 |3' |a>g |  |0.22 |

|  |rs1791686 |C>T +955 TGA |66,057,039 |3' |c>t |  |0.4 |

|BBS2 |  |  |  |  |  |  |  |

|  |snp1 |G>C -1013 ATG |55,112,288 |5' |g>c |  |0.18 |

|  |rs7184983 |G>A -935 ATG |55,112,210 |5' |g>a |  |0.18 |

|  |snp2 |G>C -702 ATG |55,111,977 |5' |g>c |  |0.21 |

|  |rs4784677 |S70N |55,106,002 |exon 2 |c>t |S>N |< 0.05 |

|  |rs3177663 |I123V |55,102,676 |exon 3 |c>t |I>V |0.18 |

|  |rs2161738 |IVS5 C>G +1529 |55,099,841 |intron 5 |c>g |  |0.13 |

|  |rs4784675 |IVS5 G>C -54 |55,097,691 |intron 5 |g>c |  |0.14 |

|  |rs9929724 |IVS9 A>C -204 |55,093,114 |intron 9 |a>c |  |0.4 |

|  |rs2303282 |IVS14 C>G -194 |55,088,686 |intron 14 |c>g |  |0.4 |

|  |rs2288056 |IVS16 A>G -318 |55,076,598 |intron 16 |a>g |  |0.13 |

|  |rs918784 |  |55,070,270 |3' |a>g |  |0.18 |

|BBS4 |  |  |  |  |  |  |  |

|  |rs7178130 |A>G -367 ATG |70,765,255 |5' |a>g |  |0.3 |

|  |rs730180 |A>G IVS5 +150 |70,794,946 |intron 5 |a>g |  |0.21 |

|  |rs2277598 |I354T |70,814,531 |exon 13 |a>g |I>T |0.3 |

|  |rs7167076 |G>A IVS14 -230 |70,815,926 |intron 14 |g>a |  |0.3 |

|  |snp7 |T>G +1174 TAA |70,818,155 |3' |t>g |  |T -18,597 ATG |10,360,759 |  |a>t |  |0.4 |

|  |rs16991547 |P39P |10,342,046 |exon 3 |g>a |P>P |0.12 |

|  |Ile178Ile |I178I |10,341,629 |exon 3 |c>t |I178I |0.12 |

|  |rs221667 |C>G IVS3 +33 |10,341,145 |intron 3 |c>g |  |0.21 |

|  |rs1547 |R517C |10,334,059 |exon 6 |a>g |R>C |0.12 |

|  |rs1545 |G532F |10,334,013 |exon 6 |c>a |G>F |0.12 |

|  |rs2294901 |C>T +392 TAA |10,333,503 |3' |c>t |  |0.12 |

|  |rs221670 |C>T +1076 TAA |10,332,819 |3' |c>t |  |0.21 |

Supplementary Table 2 | List of common polymorphisms identified in BBS1, BBS2, BBS4 and BBS6 (dbSNP build 123).

* MAF = Minor Allele Frequency

|Cohorts |  |Genotypes n |  |Dominant model|Recessive |allelic P |Odd ratio [CI] |OR |

| | |(Frequency) | | |model |val. | | |

|BBS1_rs2298806 |GG |GA |AA |  |  |  |  |  |

|Controls |764 (0.60) |441 (0.35) |61 (0.05) | | | | |  |

|Class 1 & 2 adult obese |375 (0.61) |208 (0.34) |34 (0.06) |0.86 |0.52 |0.93 |1.01 C.I.=[0.86-1.19] |1.03 |

|Class 3 adult obese |417 (0.62) |229 (0.34) |32 (0.05) |0.62 |0.92 |0.65 |0.96 C.I.=[0.82-1.13] |0.97 |

|Obese children |378 (0.63) |198 (0.33) |28 (0.05) |0.35 |0.86 |0.40 |0.93 C.I.=[0.79-1.10] |0.94 |

|BBS1_rs1791686 |CC |CT |TT |  |  |  |  |  |

|Controls |461 (0.38) |568 (0.47) |192 (0.16) | | | | |  |

|Class 1 & 2 adult obese |231 (0.37) |287 (0.46) |102 (0.16) |0.83 |0.69 |0.72 |1.03 C.I.=[0.89-1.18] |1.03 |

|Class 3 adult obese |251 (0.38) |315 (0.47) |103 (0.15) |0.92 |0.85 |0.98 |1.00 C.I.=[0.87-1.14] |1.00 |

|Obese children |210 (0.36) |275 (0.48) |93 (0.16) |0.56 |0.84 |0.61 |1.04 C.I.=[0.90-1.20] |1.04 |

|BBS2_snp2 |  |  |  |  |  |  |  |  |

|Controls |745 (0.63) |371 (0.32) |57 (0.05) | | | | |  |

|Class 1 & 2 adult obese |384 (0.62) |212 (0.34) |26 (0.04) |0.11 |0.83 |0.70 |1.03 C.I.=[0.87-1.22] |1.01 |

|Class 3 adult obese |402 (0.61) |228 (0.34) |30 (0.05) |0.05 |0.56 |0.41 |1.07 C.I.=[0.91-1.26] |1.05 |

|Obese children |358 (0.61) |206 (0.35) |23 (0.04) |0.30 |0.37 |0.59 |1.05 C.I.=[0.88-1.24] |1.01 |

|BBS2_rs9929724 |CC |CA |AA |  |  |  |  |  |

|Controls |438 (0.37) |537 (0.45) |211 (0.18) | | | | |  |

|Class 1 & 2 adult obese |232 (0.37) |283 (0.46) |106 (0.17) |0.86 |0.70 |0.74 |0.98 C.I.=[0.85-1.12] |0.98 |

|Class 3 adult obese |255 (0.38) |302 (0.46) |108 (0.16) |0.55 |0.40 |0.38 |0.94 C.I.=[0.82-1.08] |0.94 |

|Obese children |223 (0.38) |278 (0.47) |88 (0.15) |0.70 |0.13 |0.28 |0.92 C.I.=[0.80-1.07] |0.92 |

|BBS2_rs3177663 |TT |TC |CC |  |  |  |  |  |

|Controls |819 (0.69) |335 (0.28) |35 (0.03) | | | | |  |

|Class 1 & 2 adult obese |419 (0.67) |181 (0.29) |23 (0.04) |0.48 |0.39 |0.37 |1.08 C.I.=[0.91-1.30] |1.10 |

|Class 3 adult obese |431 (0.65) |200 (0.30) |28 (0.04) |0.13 |0.14 |0.07 |1.17 C.I.=[0.99-1.40] |1.19 |

|Obese children |414 (0.69) |166 (0.28) |18 (0.03) |0.11 |0.61 |0.92 |1.12 C.I.=[0.94-1.34] |1.09 |

|BBS2_rs2288056 |AA |AG |GG |  |  |  |  |  |

|Controls |914 (0.76) |264 (0.22) |18 (0.02) | | | | |  |

|Class 1 & 2 adult obese |459 (0.75) |145 (0.24) |8 (0.01) |0.50 |0.74 |0.60 |1.06 C.I.=[0.86-1.30] |1.04 |

|Class 3 adult obese |498 (0.76) |152 (0.23) |8 (0.01) |0.72 |0.61 |0.84 |1.02 C.I.=[0.83-1.25] |1.01 |

|Obese children |464 (0.77) |123 (0.20) |15 (0.03) |0.76 |0.14 |0.89 |1.01 C.I.=[0.82-1.25] |1.07 |

|BBS4_rs730180 |AA |AG |GG |  |  |  |  |  |

|Controls |773 (0.62) |438 (0.35) |44 (0.03) | | | | |  |

|Class 1 & 2 adult obese |367 (0.60) |213 (0.35) |28 (0.05) |0.61 |0.25 |0.42 |1.07 C.I.=[0.91-1.26] |1.10 |

|Class 3 adult obese |406 (0.60) |236 (0.35) |31 (0.05) |0.59 |0.23 |0.39 |1.07 C.I.=[0.91-1.26] |1.10 |

|Obese children |374 (0.63) |203 (0.34) |19 (0.03) |0.63 |0.72 |0.605 |0.96 C.I.=[0.81-1.13] |0.95 |

|BBS6_rs1547 |GG |GA |AA |  |  |  |  |  |

|Controls |955 (0.78) |259 (0.21) |11 (0.01) | | | | |  |

|Class 1 & 2 adult obese |445 (0.76) |135 (0.23) |9 (0.02) |0.25 |0.23 |0.19 |1.15 C.I.=[0.93-1.42] |1.18 |

|Class 3 adult obese |516 (0.76) |152 (0.22) |9 (0.01) |0.39 |0.38 |0.32 |1.11 C.I.=[0.90-1.36] |1.13 |

|Obese children |452 (0.78) |119 (0.20) |11 (0.02) |0.89 |0.07 |0.57 |1.06 C.I.=[0.86-1.32] |1.13 |

Supplementary Table 3 | Genotypic and allelic distribution of the BBS SNPs not found to be associated with children or adult obesity

[pic]

Supplementary Figure 1 | Pairwise LD of BBS1, BBS2, BBS4 and BBS6 in 48 obese and control individuals. Regions of high and low LD (D’) are presented by red and blue shading, respectively. The graphs are to the physical map scale.

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