Vitamin D Receptor Polymorphisms Predispose to Primary Biliary Cirrhosis and Severity of the Disease in Polish Population

نویسندگان

  • Agnieszka Kempińska-Podhorecka
  • Ewa Wunsch
  • Tomasz Jarowicz
  • Joanna Raszeja-Wyszomirska
  • Beata Loniewska
  • Mariusz Kaczmarczyk
  • Małgorzata Milkiewicz
  • Piotr Milkiewicz
چکیده

Primary biliary cirrhosis (PBC) is a chronic cholestatic liver condition characterized by the immune-mediated damage of the intrahepatic bile ducts. Polymorphisms of vitamin D receptor (VDR) are considered to contribute to its pathogenesis however their incidence varies in different populations and their potential association with the course of the disease has not been studied. In this paper we investigated the incidence and correlation of three VDR polymorphisms (BsmI, ApaI or TaqI) with various clinical, biochemical, and serological factors in a homogenous group of 143 Caucasian patients with PBC. Control group comprises 306 DNA samples from umbilical cord blood of healthy newborn children. When compared to controls, we observed a significant dominance of the b allele in the BsmI (OR = 1.69 [1.27-2.24]; P = 0.0003) and t allele in the TaqI (OR = 0.62 [0.47-0.82], P = 0.0001) in patients with PBC. Moreover the BsmI and TaqI polymorphisms were associated with the presence of advanced fibrosis/liver cirrhosis at the diagnosis of PBC. Pairwise linkage disequilibrium (LD) calculations proved that the analyzed SNPs are within an LD block (100% of LDs were D'>0.9). Our study showed, for the first time, that the analyzed polymorphisms of VRD may exert an effect on a natural history of PBC.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Normal iron metabolism

40 Andreassen H, Rungby J, Dahlerup JF et al. (1997) Inflammatory bowel disease and osteoporosis. Scand J Gastroenterol 32, 1247–1255. 41 Vogel A, Strassburg CP, Manns MP (2002) Genetic association of vitamin D receptor polymorphisms with primary biliary cirrhosis and autoimmune hepatitis. Hepatology 35, 126–131. 42 Fan L, Tu X, Zhu Y et al. (2005) Genetic association of vitamin D receptor poly...

متن کامل

The association of FokI and ApaI polymorphisms in vitamin D receptor gene with autoimmune thyroid diseases in the northwest of Iran

Background: Some genetic factors are involved in the etiology of Hashimoto thyroiditis and Graves’ disease as autoimmune thyroid diseases (AITDs). Effects of vitamin D receptor gene polymorphisms in AITDs development have already been investigated in some previous studies. However, no study has been done on the association between VDR FokI and ApaI polymorphisms and AITDs in an Iranian po...

متن کامل

بررسی اپیدمیولوژیک و دموگرافیک بیماران مبتلا به سیروز صفراوی اولیه شناخته شده در شهرستان اصفهان از سال 96-1388

Introdution: Primary biliary cirrhosis is a chronic cholestatic disease of the liver, characterized by the inflammation plus progressive and non-purulent destruction of the small biliary ducts, and the presence of auto antibodies against mitochondrial self-antigens. It seems that the prevalence of PBC in the western world is more than other parts of the world. This study aimed to identify all t...

متن کامل

Polymorphisms within Exon 9, But Not Intron 8, of the Vitamin D Receptor Gene Are Associated with Asthma

Objective(s) Deregulation of the immune system through allied factors and cytokine responses are thought to be important contributors to the pathogenesis of asthma. Vitamin D3 and its nuclear receptor appear to be factors that maybe involved in regulating immune responses during the progression of asthma. The aim of this study was to investigate the association between polymorphisms in intron ...

متن کامل

بررسی ارتباط پلی‌مورفیسم‌های شایع ژن پذیرنده ویتامین (VDR) D با استعداد ابتلاء به سل ریوی

  Background and Aim: In addition to exposure to Mycobacterium tuberculosis (MTB), development of tuberculosis is influenced by environmental and host genetic factors, and clinical disease only occurs in less than 10% of the infected individuals. Vitamin D metabolism leads to activation of macrophages and restricts the intracellular growth of mycobacterium. This effect may be influenced by poly...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره 2012  شماره 

صفحات  -

تاریخ انتشار 2012