The Genetics of Psoriatic Arthritis ndi Psoriasis

Zomwe zimayambitsa chibadwa ndi chochititsa chidwi zimalingalira kuti zimayambitsa matenda ena a nyamakazi. Mwachitsanzo, ofufuza apeza kuti pafupifupi 40 peresenti ya anthu omwe ali ndi psoriasis kapena psoriatic nyamakazi ali ndi mbiri ya banja la matenda okhudza achibale oyambirira. Maphunziro a banja asonyeza kuti nyamakazi ya psoriatic imakhala ndifupipafupi makumi asanu ndi awiri kuti akhale ndi achibale oyambirira a anthu omwe ali ndi matendawa poyerekeza ndi kulamulira kosagwirizana.

Mu maphunziro a majini, mawu akuti concordance amatanthauza kuchuluka kwa kufanana pakati pa mapasa pokhudzana ndi kupezeka kapena kupezeka kwa matenda kapena khalidwe. Ndalama ya concordance ya psoriatic nyamakazi (30 peresenti) ndi yaikulu kwambiri kuposa psoriasis (7 peresenti). Kafukufuku wamaphunziro awiri mwa psoriasis awonetsa kuchuluka kwa mgwirizano pakati pa mapasa ofanana ndi mapasa a abale.

Kudziwa za majeremusi omwe amakhudzidwa ndi matenda ena ndi ntchito yochepa. Zingaphatikizepo:

Kumveka kovuta komanso kosokoneza? Ndi, monga momwe zingakhalire dzina lamanenclature . Koma, tiyeni tione zomwe zapezeka.

HLA (Anti Leukocyte Antigen)

Kutulukira kwa MHC (makina akuluakulu a chromosome) pa chromosome 6 kunali kofunika kwambiri kuti aphunzire za chibadwa cha mafupa a nyamakazi.

Zambiri za majini zadziwika. Pali mgwirizano wotchuka pakati pa malo a HLA (human leukocyte antigen) a MHC omwe amadziwika kuti HLA-C, makamaka HLA-C6, ndipo amavomerezedwa ndi psoriasis. Kuyanjana ndi HLA-C6 kulibe mphamvu ya psoriatic, kumene HLA-B27 imagwirizanitsidwa kwambiri (makamaka anthu omwe ali ndi masankhu a psoriatic), monga HLA-B38 ndi HLA-B39. HLA-C6 imayanjananso ndi psoriasis (yomwe ili ndi zaka zopitirira 40) komanso matenda oopsa kwambiri. Mwa ma antigen ena a HLA, amadziwika kuti HLA-B13, HLA-B17, HLA-B57, ndi HLA-Cw * 0602 zimachitika kawirikawiri kwa anthu omwe ali ndi nyamakazi ya psoriatic poyerekezera ndi anthu ambiri.

Milandu yotsatira (imodzi mwa mitundu iwiri kapena iwiri ya jini yomwe imayamba kusintha, yomwe imapezeka pamalo omwewo ndi chromosome) inapezeka kuti ikugwirizana kwambiri ndi nyamakazi ya psoriatic poyerekeza ndi psoriasis: B * 8, B * 27, B * 38, ndi C * 06. Kumeneko kuli HLA haplotypes (gulu la majini lomwe linatengedwa pamodzi kuchokera kwa kholo limodzi) logwirizana ndi nyamakazi: B * 18, C * 07, B * 27, B38, ndi B * 8.

Ngakhale kuti HLA-B27 imati ndipamwamba kwambiri ponena za masamu a psoriatic motsutsana ndi psoriasis, sizowona.

Mafupipafupi a HLA-B27 ndi apamwamba mu ankylosing spondylitis ndi nyamakazi yowonongeka poyerekezera ndi nyamakazi ya psoriatic. Ndiyeneranso kutchula kuti anthu ambiri omwe ali ndi psoriasis ndi imodzi mwa spondyloarthropathies ndi zoipa kwa HLA-B27. Komanso, anthu ambiri omwe ali ndi nyamakazi ya psoriatic omwe ali abwino kwa HLA-B27 samawonetsa kugwirizana kwa msana.

Kafukufuku wina wasonyeza kusonkhana pakati pa psoriatic nyamakazi ndi HLA-DR4 , antigen yomwe imadziwika kuti ikugwirizana ndi nyamakazi ya nyamakazi . Nthendayi imasiyanasiyana pakati pa zikhalidwe ziwiri, komabe, ndi HLA-DRB1 * 0401 kuchepa kawirikawiri mwa anthu omwe ali ndi nyamakazi ya psoriatic omwe ali abwino kwa HLA-DRB1 * 04 kusiyana ndi anthu omwe ali ndi nyamakazi.

Chotsutsana ndi HLA-DRB1 * 0402, omwe nthawi zambiri amakhala ndi matenda a psoriatic kuposa nyamakazi ya nyamakazi. Zida zina m'madera a MHC zaphunziranso.

GWAS (Genome-Wide Association Scans)

Gulu la gulu lachibadwa limayang'ana (GWAS) kuganizira zosiyana siyana za mitundu yosiyanasiyana pakati pa anthu osiyanasiyana pofuna kuyesa ngati pali kusiyana kulikonse komwe kumakhudzana ndi khalidwe. Malinga ndi Best Practice & Research: Clinical Rheumatology (2014), majini okwana 36 atha kukhala ofunika kwambiri ndipo amawerengera pafupifupi 22% ya psoriasis heritability. Matenda omwe amadziwika ndi GWAS omwe amaonedwa kuti ndi ofunika kwambiri pa psoriasis ndi HLA-C6, IL12B, IL23R, IL23A, TNIP1, TNFAIP3, LCE3B-LCE3C, TRAF3IP2, NFkBIA, FBXL19, TYK2, IFIH1, REL, ndi ERAP1. Matenda omwe amadziwika ndi GWAS omwe ali ndi masamu a psoriatic ndi HLA-B / C, HLA-B, IL-12B, IL-23R, TNIP1, TRAF3IP2, FBXL19, ndi REL.

Pansi

Ngati muli ndi mamembala omwe ali ndi matenda a psoriatic, kuphunzira kuti kafukufuku wasonyeza kuti kuchuluka kwa maulendo makumi asanu ndi awiri (55) kungakhale kovuta. Dzilimbitseni ndi chidziwitso choyenera-mwinamwake muli ndi maganizo olakwika pa momwe zinthu zingathandizire kukhazikitsa molunjika, kuchepetsa nkhawa yanu. Ndipo, ndithudi, kambiranani momasuka ndi katswiri wanu wa zaumoyo.

Zotsatira:

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Psoriatic Arthritis. Pathogenesis. Genetic Factors. Kelley's Textbook ya Rheumatology. Chaputala 77. Kope lachinayi. Elsevier.