@Article{Krawczak-Wójcik2026,
journal="Biology of Sport",
issn="0860-021X",
year="2026",
title="ACTN3 rs1815739 but not ACE rs1799752 is associated with non-contact knee ligament rupture in elite handball players",
abstract=" This study investigated associations of ACTN3	rs1815739 and	ACE	rs1799752 with	a pooled	non contact	knee	ligament	rupture	(KLR)	phenotype	in	elite	handball	players.	329 elite	Polish	handball	players	 (18–35 years; ≥ 5 years	of	competitive	experience)	were	included.	Self-reported	non-contact	KLRs	in	103 cases	 were	analyzed	as	a pooled	phenotype;	226 injury-free	players	were	controls.	TaqMan	assays	were	used.	Logistic	 regression and multifactor dimensionality reduction (MDR) were applied. ACE	rs1799752 showed	no	association	 with the pooled KLR phenotype. ACTN3	rs1815739 genotype	frequencies	in	cases	versus	controls	were	46.6%	 versus	32.7%	for	RR,	39.8%	versus	51.8%	for	RX,	and	13.6%	versus	15.5%	for	XX.	The	codominant	genotype	 distribution	differed	before	but	not	after	sex	adjustment	(FDR-corrected	global	p =	0.046;	sex-adjusted	FDR corrected	global	p =	0.06).	Under	the	dominant	model,	X-allele	carriers	were	less	frequent	among	cases	than	 controls	(RX	+	XX:	53.4%	versus	67.3%)	and	had	lower	odds	of	the	pooled	KLR	phenotype	than	RR	homozygotes	 in	both	the	unadjusted	analysis	(OR =	0.56,	95%	CI:	0.35–0.90;	FDR-corrected	p =	0.02)	and	the	sex-adjusted	 analysis	(OR =	0.57,	95%	CI:	0.35–0.92;	FDR-corrected	p =	0.02).	MDR	analysis	identified	a significant	two locus model including ACE	rs1799752 and	ACTN3	rs1815739 (p =	0.01),	within	which	the	DD/RR,	DD/XX,	and	 ID/RR	genotype	combinations	occurred	more	frequently	among	cases	than	controls.	ACTN3	X-allele	carriers	had	 lower	odds	of	pooled	KLR	under	the	dominant	model.	Specific	ACE–ACTN3 genotype combinations were more  frequent	in	the	pooled	KLR	group.	MDR	findings	require	cautious	interpretation	and	independent	replication. ",
author="Krawczak-Wójcik, Katarzyna
and Bojarczuk, Aleksandra
and Mastalerz, Andrzej
and Johne, Monika
and Garbacz, Aleksandra
and Komar, Katarzyna
and Maculewicz, Ewelina",
pages="273--281",
doi="10.5114/biolsport.2027.166193",
url="http://dx.doi.org/10.5114/biolsport.2027.166193"
}