Mutation screen in the GWAS derived obesity gene SH2B1including functional analyses of detected variants

BMC Medical Genomics

Table 2 Minor allele frequencies of the detected SNPs and mutations in SH2B1 excluding the screening group

			Genotypes cases				Genotypes controls
Position	rs-Number	Amino acid exchange	11	12	22	Minor allele frequency cases [%]	11	12	22	Minor allele frequency controls [%]	Odds Ratio^d	95% Confidence Interval	Nominal p-value
g.2749C/A	rs147094247	Thr175Asp	11, 257	11	0	0.05	4,511	1	0	0.01	4.4	0.57 - 34.13	0.199^c
g.8164A/G	rs7498665	Thr484Ala	512	1,526	1,101	40.62	58	195	181	35.83	1.2	1.06-1.42	0.007 ^a
g.8250C/T	rs60604881		70	87	22	36.59	73	75	37	40.27	0.86	0.63 - 1.15	0.323^b
g.8738A/G	rs62037368		176	2	0	0.56	182	3	0	0.81	0.69	0.11 - 4.16	1^b
g.8764C/T	rs62037369		65	81	32	40.73	79	82	23	34.78	1.29	0.95 - 1.74	0.107^b
g.9483C/T		βThr656Ile, γPro674Ser	11,206	2	0	0.01	4,506	0	0	0.00	NA	NA	1^c
g.10182C/A			178	1	0	0.28	184	0	0	0.00	NA	NA	0.493^b

^a genotyped in 3,230 obese cases and 439 lean controls.
^b genotyped in a total of 179 obese cases and 185 lean controls.
^c genotyped in a total of 11,406 obese and overweight cases and 4,568 (mainly population based) controls.
^d Odds ratio is given with respect to the minor allele.

ISSN: 1755-8794