Unregistered User If this is not your name, click here.
		Contact Us | Order Now | Journals | Bookstore | Register a colleague
	Select a ChannelAcneAIDS and HIVAllergy OtherAlzheimer'sAnaesthesiology OtherAngina Pectoris/MIAnxietyArthritis OtherAsthmaBack PainBacterial InfectionsBladder CancerBone Marrow TransplantationBreast CancerCardiology OtherCataractCell TransplantationCervical CancerCholesterol/Lipid disordersCirrhosisClinical PharmacologyColorectal CancerCongestive Heart FailureContact DermatitisContraceptionCOPDCystic FibrosisDental and Oral DisordersDepressionDermatology OtherDiabetesDialysisEating DisordersElbowEmergency MedicineEndocrinology OtherEpilepsyErectile DysfunctionFibromyalgiaGastro OtherGeneticsGenitourinary OtherGeriatricsGERD/GastritisGlaucomaH. Pylori/UlcerHaematology OtherHair LossHeadachesHepa/Biliary OtherHepatitisHipHRTHypertensionIBDImmunologyInfectious OtherInfertilityIntensive CareIrritable Bowel SyndromeKneeLeukemiasLiver CancerLung CancerLupusLymphomasMelanomaMenopauseMultiple Sclerosis Nephrology OtherNeurologic OtherNutritional / Metabolic OtherOb/Gyn OtherObesityOncology OtherOphth. OtherOphthalmic SurgeryOrgan TransplantationOrthopaedics OtherOsteoarthritisOsteoporosisOtitisOtorhino. OtherOvarian CancerPaediatricsPainPancreatic CancerParkinson'sPregnancyProstate CancerPsychiatry OtherPulmonary OtherRadiologyRenal CancerRenal FailureRespiratory InfectionsRheumatoid arthritisRheumatology OtherRhinitisSchizophreniaShoulderSleep ApnoeaSleep DisordersSpineStrokeSTDsSurgeryThyroid DisordersTransfusionTransplant Surgery OtherTraumaUrinary IncontinenceUrinary tract infectionsVaccinologyVascular DisordersViral Infections

SEARCH   News Bookstore Medline The Web Meetings & Congresses Complete Doctor's Guide    EXPLORE :    All News   All Webcasts   All Cases   All Meetings & Congresses   All Medical Resources New drugs / indications English Dictionary Medical Dictionary Thesaurus Warning | Privacy | Awards  Favourite Journals  Click here to choose your favourite journals  Favourite Sites  Click here to choose your favourite sites  Languages  Select languageEnglishFrançais

Genetic Variation Increases Risk of Liver Disease in Patients With Cystic Fibrosis CHICAGO -- September 8, 2009 -- A genetic analysis indicates that a certain gene variation in patients with cystic fibrosis (CF) may significantly increase their risk of developing severe liver disease, according to a study published in the September 9 issue of JAMA. Previous research has suggested that genetic variability that is not associated with the CF transmembrane conductance regulator (CFTR) gene may contribute to the risk for severe liver disease. Jaclyn R. Bartlett, PhD, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, and colleagues examined 9 variants in 5 genes previously studied in CF liver disease to determine the association between non-CFTR genetic variations and CFLD. The initial study compared genetic variations in the candidate genes in persons with CFLD (n = 124) and in control patients without CFLD (n = 843), with a second study testing these findings in different populations of patients with (n = 136) and without (n = 1,088) CFLD. The researchers found that of the 5 genes studied, only the SERPINA1 Z allele was significantly associated with CFLD and portal hypertension. This polymorphism is relatively uncommon in CF (about 2.2% of patients with CF are carriers), but the odds ratio for association with severe liver disease is relatively high (about 5 times higher) for the contribution of a genetic modifier to a mendelian disorder. Moreover, the estimated population-attributable risk among patients with CF is 6.7%. From a clinical perspective, a rare variant with large penetrance (such as the Z allele) may be more useful than a common variant with low penetrance in screening for genetic polymorphisms.” “The identification of the SERPINA1 Z allele as the first marker for the development of severe liver disease in CF illustrates the possibility of identifying CF risk factors early in life, conceptually as a secondary component of neonatal screening after the diagnosis of CF is confirmed,” the authors concluded. SOURCE: JAMA E-mail this page to a friend or colleague! To print, use this version