Alterations in the steroid hormone receptor co-chaperone FKBPL are associated with male infertility: a case-control study

Table 1 Sequence differences between azoospermic patients and matched controls^a

Mutation	Type	Alteration	Location^b	Frequency
1	Base change	Synonymous	32205968	0 Japanese patients,^c 12 controls
2	Base change	Synonymous	32205869	10 Japanese patients,^d 0 controls
2^f	Base change	Synonymous	(as above)	8 Irish patients,^e 1 control
3	Splice site	Loss of function	32205611	1 Japanese patient, 0 controls
4	Base change	Asn=>Ser	32205453	1 Irish patient, 0 controls
5	Base change	Thr=>Arg	32205391	1 Irish patient, 0 controls
6	Insertion	4AA duplication	32205307	1 Japanese patient, 0 controls

^aGroup sizes: Japanese patients (n = 60) and Japanese controls (n = 56); Irish patients (n = 30) and Irish controls (n = 30).
^bLocation given with respect to the International Human Genome Sequencing Consortium March 2006 human reference sequence (NCBI Build 36.1).
^cProbability p <0.001; ^d p = 0.0014, ^e p = 0.026 by Fisher's exact test, see also methods
^fListed twice, as the frequencies and associated probabilities differ in the two populations

ISSN: 1477-7827