Table 2.

The genomic region on chromosome 11p14.1 containing the FSHB gene and corresponding single-nucleotide variations

Chr	Position	ID	β	P	% variance explained, %	% variance explained in patients with total sperm count < 39 Mill/ejac (n = 294), %	MAF	Distance to FSHB	Publicationsa
11	30226356	rs11031005	–0.3984	1.07E-08	4.65	6.95	0.163	26 207 bp (upstream)	(27-33)
11	30226528	rs11031006	–0.3984	1.07E-08	4.65	6.95	0.163	26 035 bp (upstream)	(27, 28, 30, 31, 34-46)
11	30215261	rs11031002	–0.3933	1.12E-07	3.98	6.61	0.139	37 302 bp (upstream)	(29, 31-33, 47)
11	30240178	rs11031010	–0.3549	2.89E-07	3.67	5.18	0.169	12 385 bp (upstream)	(36, 48-52)
11	30296055	rs12364889	–0.3554	3.01E-07	3.66	5.18	0.168	39 231 bp (downstream)	–
11	30242287	rs74485684	–0.334	3.32E-07	3.69	5.63	0.19	10 276 bp (upstream)	(29)
11	30317839	rs202057396	–0.3353	3.73E-07	3.72	5.92	0.191	61 015 bp (downstream)	–
11	30252352	rs10835638	–0.351	3.97E-07	3.60	5.12	0.17	211 bp (upstream)	(16-18, 21, 31-33, 39, 53-71)
11	30305675	rs11031033	–0.3542	3.99E-07	3.61	4.89	0.168	48 851 bp (downstream)	–

After imputation analyses 9 SNVs, all located on chr.11p14.1, are significantly associated with FSH levels. An additive linear model was applied, including the top 5 principal component and patient age as covariates. All coordinates are reported according to hg19 reference genome. β Values correspond to each SNV’s linear regression coefficient. The effect of the respective SNVs on FSH serum level is indicated in column % variance explained. Relevant literature for respective SNVs are presented.

Abbreviations: bp, base pair; Chr, chromosome; FSH, follicle-stimulating hormone; ID, identification; MAF, minor allele frequency; SNV, single-nucleotide variation.

^a Publications from Ensembl (https://www.ensembl.org/index.html).