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Central European Journal of Sport Sciences and Medicine | Vol. 5, No.

1/2014: 91–97

$5(9,(:2)678',(6$%2877+(*(1(6(1&2',1*
THE COLLAGEN PROTEINS IN THE CONTEXT OF THE ANTERIOR CRUCIATE
LIGAMENT RUPTURE
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Address for correspondence:


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Abstract. $&/ UXSWXUH LV D FRPPRQ LQMXU\ LQ SURIHVVLRQDO VSRUW DV ZHOO DV UHFUHDWLRQ ,W KDSSHQV PRVW RIWHQ GXULQJ GHFHOHUDWLRQ
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FRPSRQHQWRIWKH$&/UHDFKLQJRIWKHFRQWHQWLVFROODJHQ/LJDPHQWVDUHPDGHRIVHYHUDOW\SHVRIFROODJHQZKLFKSHUIRUP
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LQIOXHQFHWKHULVNRILQMXU\WRWKH$&/7KLVSXEOLFDWLRQFRQWDLQVD UHYLHZRIVWXGLHVDERXWSRO\PRUSKLVPVRIFROODJHQJHQHVLQWKH
FRQWH[WRI$&/UXSWXUH

Key words: $&/UXSWXUHFROODJHQJHQHVSRO\PRUSKLVPV

Introduction
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 7KHNQHHLVWKHPRVWH[SRVHGWRLQMXU\SDUWRIWKHERG\ )O¡UHQHVHWDO ,QMXULHVWRWKHNQHHKDYHPRVW
FRPPRQO\DIIHFWHGIRRWEDOOHUVDQGVNLHUVDVZHOODVKDQGEDOODQGYROOH\EDOOSOD\HUV2QHRIWKHPRVWVHULRXVNQHH
LQMXULHVLVUXSWXUHRIDQWHULRUFUXFLDWHOLJDPHQW $&/ DQGWKLVXVXDOO\DSSOLHVWRKDQGEDOODQGYROOH\EDOOSOD\HUV
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LQWKHULVNJURXS VSRUWVPHQ WKHQXPEHULVSHULQKDELWDQWV 5HQVWURPHWDO 
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Vol. 5, No. 1/2014 91


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Collagen I (COL1A1)
Collagen I DFFRXQWV IRU  RI DOO FROODJHQV &ROODJHQ , is a KHWHURWULPHU FRQVLVWLQJ RI WZR Į DQG RQH
Į FKDLQV 7KH Į FKDLQ LV HQFRGHG IRU E\ WKH &2/$ JHQH &2/$ FRQVLVWV RI  H[RQV DQG LV ORFDWHG RQ
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DQG$FKLOOHVWHQGRQUXSWXUHVLQWZRSRSXODWLRQV .KRVFKQDXHWDO3RVWKXPXVHWDO 0RUHRYHU
SUHYLRXVVWXGLHVVXJJHVWHGWKDWWKHG\VIXQFWLRQRIW\SH, collagen genes was associated with disorders such as
RVWHRJHQHVLVLPSHUIHFWDV\VWHPLFGLVHDVHVZLWKVFOHUDOWKLQQLQJDQGP\RSLD <DQJHWDO0DULMDQRYLüHWDO
0F%ULHQHWDO 7KH*WR7VXEVWLWXWLRQLQDQLQWURQLF6SELQGLQJVLWH UV UHVXOWLQJLQLQFUHDVHG
DIILQLW\ IRU WKH WUDQVFULSWLRQ IDFWRU 6S DQG LQFUHDVHG JHQH H[SUHVVLRQ KDV EHHQ RQH RI WKH PRVW H[WHQVLYHO\
LQYHVWLJDWHGSRO\PRUSKLVPVZLWKLQWKLVJHQH 0H\HUHWDO 6WXGLHVUHYHDOHGWKDWWKHUDUH77JHQRW\SHZDV
VKRZQWREHXQGHUUHSUHVHQWHGLQVXEMHFWVZLWKDFXWHVRIWWLVVXHUXSWXUHV .KRVFKQDXHWDO 
,QWKHLUVWXGLHV.KRVFKQDXHWDO  LGHQWLILHGRQHVXEMHFWHDFKZLWKD 77JHQRW\SHIURP  
VXEMHFWVZLWK&/UXSWXUHVDQG  VXEMHFWVZLWK6'6LPLODUUHVHDUFKFRQGXFWHGRQWKHSRSXODWLRQRI6RXWK
$IULFDVKRZHGWKDWWKHUDUH77JHQRW\SHZDVVLJQLILFDQWO\XQGHUUHSUHVHQWHGLQWKH$&/UXSWXUHJURXS RXWRI
 FRPSDUHGZLWKWKHFRQWUROV RXWRI ,QDGGLWLRQUDUH77JHQRW\SHZDVDEVHQWLQVXEMHFWVZLWK
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VXEMHFWVZLWKFKURQLF$FKLOOHVWHQGLQRSDWK\ 3RVWKXPXVHWDO 7KLVVHTXHQFHYDULDQWVHHPVWREHWKHILUVW
VSHFLILF JHQHWLF HOHPHQW WR EH LQFOXGHG LQ PXOWLIDFWRULDO PRGHOV GHYHORSHG WR XQGHUVWDQG WKH HWLRORJ\ DQG ULVN
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92 Central European Journal of Sport Sciences and Medicine


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injury in a JURXSRISURIHVVLRQDOVRFFHUSOD\HUV&RQVHTXHQWO\FDUULHUVRIWZRFRSLHVRIWKLVKDSORW\SHPD\KDYH
a UHGXFHGULVNRI$&/LQMXU\7KHUHLVD VXJJHVWLRQWKDWLGHQWLI\LQJWKHJHQHWLFSURILOHDVVRFLDWHGZLWK$&/UXSWXUHV
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Collagen V (COL5A1)
&ROODJHQ 9 LV D ZLGHO\ GLVWULEXWHG TXDQWLWDWLYHO\ PLQRU ILEULOODU FROODJHQ IRUPLQJ EHWZHHQ ± RI WRWDO
FROODJHQFRQWHQWRIWHQGRQH[WUDFHOOXODUPDWUL[ &KDQXW'HODODQGHHWDO 7\SH9FROODJHQLVFRH[SUHVVHG
ZLWKW\SH, FROODJHQ %LUN ,WLQWHUFDODWHVZLWKWKHW\SH, FROODJHQPROHFXOHVWRIRUPKHWHURW\SLFILEULOVLQQRQ
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LVRIRUPRIW\SH9FROODJHQLVD KHWHURWULPHUFRQVLVWLQJRIWZRĮ 9 DQGRQHĮ 9 FKDLQVZKLFKDUHHQFRGHGIRU
by the &2/$ T DQG &2/$ T JHQHVUHVSHFWLYHO\6RPHLVRIRUPVFRQWDLQDQĮ 9 FKDLQHQFRGHGIRU
by the &2/$JHQH T  &ROOLQVDQG5DOHLJK &ROODJHQ9SOD\VDQHVVHQWLDOUROHLQILEULODVVHPEO\DQG
ODWHUDOILEULOJURZWKZLWKLQFRQQHFWLYHWLVVXHV LQFOXGLQJWHQGRQ  5LOH\ 6HYHQVLQJOHQXFOHRWLGHSRO\PRUSKLF
VLWHVDUHDQQRWDWHGZLWKLQWKH¶8757KH&WR7VLQJOHQXFOHRWLGHSRO\PRUSKLVP 613UVRU Bst8,5)/3 
ZDVFRPPRQO\DVVRFLDWHGZLWKµµH[HUFLVHUHODWHG¶¶SKHQRW\SHV &ROOLQVDQG3RVWKXPXV 5HFHQWO\UV
SROLPRUSKLVPLQWKHƍXQWUDQVODWHGUHJLRQ ƍ875 RI &2/$ZDVVKRZQWREHDVVRFLDWHGZLWKFKURQLF$FKLOOHV

Vol. 5, No. 1/2014 93


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SDUWLFLSDQWVZHUHJHQRW\SHGIRUWKH &2/$ BstUI and 'SQ,,5)/3V5HVHUFKVKRZHGD significant difference in
the Bst8,5)/3JHQRW\SHIUHTXHQF\EHWZHHQWKHDQWHULRUFUXFLDWHOLJDPHQWUXSWXUHDQGSK\VLFDOO\DFWLYHFRQWURO
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ZHUH ZLWKRXW DQ\ VHOIUHSRUWHG KLVWRU\ RI OLJDPHQW RU WHQGRQ LQMXU\ 5HVXOWV VKRZHG WKHUH ZDV D tendency to
XQGHUUHSUHVHQWDWLRQRI&7KDSORW\SHLQ$&/UXSWXUHJURXSFRPSDUHGWRFRQWUROV S  +LJKHUIUHTXHQF\RI
the &2/$&7 Bst8,5)/3&7DQG 'SQ,,5)/3&7SRO\PRUSKLVPV KDSORW\SHVXJJHVWVDQDVVRFLDWLRQZLWK
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Collagen XII and XIV (COL12A1 and COL14A1)


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$VVRFLDWHG &ROODJHQV ZLWK ,QWHUUXSWHG 7ULSOH KHOLFHV )$&,7V  VXEIDPLO\ 6KDZ DQG 2OVHQ   7\SH ;,, DQG
;,9FROODJHQVDUHKRPRWULPHUVFRQVLVWLQJRIĮ ;,, FKDLQV 'XEOHW &ROODJHQ;,,LVHQFRGHGE\D single
JHQH &2/$ PDSSHG WR FKURPRVRPH TT *RUGRQ HW DO   7KH &2/$ KDV EHHQ PDSSHG RQ
FKURPRVRPHTDQGHQFRGHVWKHĮ ;,9 FKDLQ 6FKQLWWJHUHWDO 6LPLODUWRW\SH9FROODJHQW\SH;,,
FROODJHQPD\EHLQYROYHGLQILEULOORJHQHVLV %LUNHWDO<RXQJHWDO 
3UHYLRXV VWXGLHV H[DPLQHG WKH DVVRFLDWLRQ RI SRO\PRUSKLVPV LQ WKH &2/$ and &2/$ genes with
WKHULVNRI$FKLOOHVWHQGLQRSDWK\RU $FKLOOHVOLJDPHQW UXSWXUH 6HSWHPEHUHWDO  1RVSDVWLFDOO\VLJQLILFDQW
GLIIHUHQFHVZHUHLGHQWLILHGLQWKHJHQRW\SHDOOHOHRUKDSORW\SHGLVWULEXWLRQVEHWZHHQWKHVXEMHFWVDQGFRQWUROJURXS
9HU\ IHZ VWXGLHV FRQFHUQ WKH UHODWLRQVKLS RI &2/$ DQG ULVN RI DQ DQWHULRU FUXFLDWH OLJDPHQW UXSWXUH
3RVWKXPXV HW DO   LQYHVWLJDWHG ZKHWKHU WKH VHTXHQFH YDULDQWV ZLWKLQ &2/$ DUH DVVRFLDWHG ZLWK $&/
UXSWXUHV2QHKXQGUHGDQGWZHQW\QLQHVXEMHFWVLQFOXGLQJIHPDOHVZLWK$&/UXSWXUHVDQG IHPDOHV 
SK\VLFDOO\DFWLYHFRQWUROVZHUHLQFOXGHGLQWKLVVWXG\$OOSDUWLFLSDQWVZHUHJHQRW\SHGIRUWKH$OXI and BsrI restriction
IUDJPHQW OHQJWK SRO\PRUSKLVPV 5)/3V  ZLWKLQ &2/$ 6WXGLHV VKRZHG WKDW 7KH &2/$ $OX, 5)/3 LV
DVVRFLDWHGZLWK$&/UXSWXUH7KLVUHODWLRQVKLSZDVVLJQLILFDQWRQO\IRUIHPDOHVXEMHFWV7KHUHVXOWVVXJJHVWHGWKDW
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$OX,5)/3 $* SRO\PRUSKLVPZDVWHVWHGDVWKHRQHWKDWPD\EHDVVRFLDWHGZLWKWKHULVNRI$&/UXSWXUH

94 Central European Journal of Sport Sciences and Medicine


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with a SUHGLVSRVLWLRQIRU$&/LQMXU\

Conclusions
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*ULIILQHWDO $PRQJWKHJHQHWLFULVNIDFWRUV'1$VHTXHQFHYDULDQWVZLWKLQJHQHVWKDWFRGHIRUVSHFLILF
FROODJHQSURWHLQV FROODJHQ, DQG9 DQGWHQGRQH[WUDFHOOXODUPDWUL[SURWHLQVOLNHFROODJHQ;,,KDYHUHFHQWO\EHHQ
VKRZQWREHVLJQLILFDQWO\DVVRFLDWHGZLWK$&/UXSWXUH .KRVFKQDXHWDO3RVWKXPXVHWDOD
 
*HQHVWKDWDUHDOVROLNHO\WREHWLHGWRWKHULVNRIWKH$&/UXSWXUHDUHWKHPDWUL[PHWDOORSURWHLQDVHJHQHV
003VDUHWKHPDLQSK\VLRORJLFDOPHGLDWRUVRIH[WUDFHOOXODUPDWUL[ (&0 GHJUDGDWLRQDQGUHPRGHOLQJ %LUNHGDO
+DQVHQHWDO6RPHUYLOOHHWDO  003JHQHKDVUHFHQWO\EHHQVKRZQWRDVVRFLDWHZLWKWKHULVNRI
FKURQLF$FKLOOHVWHQGLQRSDWK\ 5DOHLJKHWDO 0RUHRYHULWZDVDOVRVKRZQWKDWWKH 003UVYDULDQW
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Vol. 5, No. 1/2014 95

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