Relevance of polymorphisms in MC4R and BDNF in short normal stature

BMC Pediatrics

Table 1 Detected non-synonymous and frameshift variants in the protein coding regions of LEP, MC4R, MRAP2 and BDNF in 185 index patients with short normal stature

Gene	rs-number	aa-exchange	variant carrier (%)/MAF (%) SNS	MAF (%) EVS	MAF (%) ExAC All^a/European^b	Conservation
LEP	None	None	–	–	–	–
MC4R	None	p.Met215Ile	1 (0.54%) /0.27	None	0.0008/0.0014	98.2%
	rs13447329	p.Thr112Met	2 (1.08%) /0.54	0.07	0.12/0.20	70.9%
	rs52820871	p.Ile251Leu	4 (2.16%) /1.08	1.16	0.68/1.00	78.2%
	rs2229616	p.Val103Ile	12 (6.49%) /3.24	1.85	1.74/1.95	94.5%
BDNF	rs8192466	p.Thr2Ile	1 (0.54%) /0.27	0.40	0.11/0.25	93.4%
	rs6265	p.Val66Met	79 (42.70%) /23.51	19.07	19.37/19.29	93.4%
	rs539177035	p.Cys34PhefsTer12	1 (0.54%) /0.27	None	0.0054/0.0050	n.a.
	rs551669106	p.Val56Ala	1 (0.54%) /0.27	None	0.01/0.14	8.2%
MRAP2	None	None	–	–	–	–

aa amino acid, MAF minor allele frequency, SNS short normal stature, EVS Exome variant server based on the Exome Sequencing project NHCBI (http://evs.gs.washington.edu/EVS/) for approximatly 4300 European Americans; ExAC (http://exac.broadinstitute.org/about) comprising ^a60,706 unrelated individuals from different ethnic background; of these approximatly ^b34,000 are of European (without Finland) descent; conservation analysis was performed by aligning sequences of 55 (MC4R) and 61 (BDNF) species in total using orthologous data from the database Ensembl (http://www.ensembl.org/index.html; September 23th 2016)

ISSN: 1471-2431