Nội dung được dịch bởi AI, chỉ mang tính chất tham khảo
Mối liên quan giữa xơ gan mật nguyên phát và đa hình gen thụ thể vitamin D BsmI trong một quần thể Hungary
Tóm tắt
Chúng tôi đã tìm hiểu sự phân bố của các kiểu gen thụ thể vitamin D được xác định bởi biến dị BsmI và điều tra mối liên hệ của chúng với mật độ khoáng xương ở bệnh nhân xơ gan mật nguyên phát. Kiểu gen thụ thể vitamin D và mật độ khoáng xương tại cột sống thắt lưng được xác định trong 31 bệnh nhân nữ Hungary mắc xơ gan mật nguyên phát và 51 nữ đối chứng khỏe mạnh phù hợp về tuổi tác. Tần suất kiểu gen (BB: 45%, Bb: 32%, bb: 22%) ở nhóm bệnh nhân khác biệt đáng kể so với nhóm đối chứng (P = 0.01) do sự chiếm ưu thế của kiểu gen BB. Có một xu hướng rõ rệt, nhưng không đạt được ý nghĩa thống kê, cho thấy mật độ khoáng xương thấp hơn ở cả hai nhóm bệnh nhân và đối chứng mang allele B. Tóm lại, chúng tôi phát hiện tần suất kiểu gen BB cao đáng kể ở bệnh nhân xơ gan mật nguyên phát, điều này đặt ra những câu hỏi về ảnh hưởng của hormone đối với sự phát triển của xơ gan mật nguyên phát.
Từ khóa
#xơ gan mật nguyên phát #thụ thể vitamin D #biến dị BsmI #mật độ khoáng xương #bệnh nhân nữ HungaryTài liệu tham khảo
Morrison NA, Yeoman R, Kelly PJ, Eisman JA: Contribution of transacting factor alleles to normal physiological variability: Vitamin D receptor gene polymorphisms and circulating osteocalcin. Proc Natl Acad Sci USA 89:6665–6669, 1992
Kelly PJ, Hopper JL, Macaskill GT, Pocock NA, Sambrook PN, Eisman JA: Genetic factors in bone turnover. J Clin Endocrinol Metab 72:808–813, 1991
Nelson DA: The search for the osteoporosis gene. J Clin Endocrinol Metab 82:989–990, 1997
Morrison NA, Qi JC, Tokita A, Kelly PJ, Crofts L, Nguyen TV, Sambrook PN, Eisman JA: Prediction of bone density from vitamin D receptor alleles. Nature 367:284–287, 1994
Need AG, Horowitz M, Stiliano A, Scopacasa F, Morris HA, Chatterton BE: Vitamin D receptor genotypes are related to bone size and bone density in men. Eur J Clin Invest 26:793–796, 1996
Spector TD, Keen RW, Arden NK, Morrison NA, Major PJ, Nguyen TV, Kelly PJ, Baker JR, Sambrook PN, Lanchbury JS, Eisman JA: Influence of vitamin D receptor genotype on bone mineral density in postmenopausal women: A twin study in Britain. BMJ 310:1357–1360, 1995
Ferrari S, Rizzoli R, Chevalley T, Slosman D, Eisman JA, Bonjour J-P: Vitamin-D-receptor-gene polymorphisms and change in lumbar-spine bone mineral density. BMJ 345:423–424, 1995
Tokita A, Matsumoto H, Morrison NA, Tawa T, Miura Y, Fukamauchi K, Mitsuhashi N, Irimoto M, Yamamori S, Miura M, Watanabe T, Kuwabara Y, Yabuta K, Eisman JA: Vitamin D receptor alleles, bone mineral density and turnover in premenopausal Japanese women. J Bone Miner Res 11:1003–1009, 1996
Fleet JC, Harris SS, Wood RJ, Dawson-Hughes B: The BsmI vitamin D receptor restriction fragment length polymorphism (BB) predicts low bone density in premenopausal black and white women. J Bone Miner Res 10:985–990, 1995
Jorgensen HL, Scholler J, Sand JC, Bjuring M, Hassager C, Christiansen C: Relation of common allelic variation at vitamin D receptor locus to bone mineral density and postmenopausal bone loss: cross sectional and longitudinal population study. BMJ 313:586–590, 1996
Gunnes M, Berg JP, Halse J, Lehmann EH: Lack of relationship between vitamin D receptor genotype and forearm bone gain in healthy children, adolescents and young adults. J Clin Endocrinol Metab 82:851–855, 1997
Hustmyer FG, Peacock M, Hui S, Johnston CC, Christian J: Bone mineral density in relation to polymorphism at the vitamin D receptor gene locus. J Clin Invest 94:2130–2134, 1994
Young RP, Lau EMC, Birjandi Z, Critchley JAJII, Woo J: Interethnic differences in hip fracture rate and the vitamin D receptor polymorphism. Lancet 348:688–689, 1996
Beavan S, Prentice A, Yan L, Dibba B, Ralston S: Differences in vitamin D receptor genotype and geographical variation in osteoporosis. Lancet 348:136–137, 1996
Cooper G, Umbach DM: Are vitamin D receptor polymorphisms associated with bone mineral density? A meta-analysis. J Bone Miner Res 11:1841–1849, 1996
Farrow S: Allelic variation and the vitamin D receptor. Lancet 343:1242, 1994
Mundy GR: Boning up on genes. Nature 367:216–217, 1994
van Leeuwen JPTM, Uitterlinden AG, Birkenhager JC, Pols HAP: Vitamin D receptor gene polymorphisms and osteoporosis. Steroids 61:154–156, 1996
Dawson-Hughes B, Harris SS, Finneran S: Calcium absorption on high and low calcium intake in relation to vitamin D receptor genotype. J Clin Endocrinol Metab 80:3657–3661, 1995
Wishart JM, Horowitz M, Need AG, Scopacasa F, Morris HA, Clifton PM, Nordin BE: Relations between calcium intake, calcitriol, polymorphisms of the vitamin D receptor gene and calcium absorption in premenopausal women. Am J Clin Nutr 65:798–802, 1997
Howard G, Nguyen T, Morrison N, Watanabe T, Sambrook P, Eisman J, Kelly PJ: Genetic influences on bone density: Physiological correlates of vitamin D receptor gene alleles in premenopausal women. J Clin Endocrinol Metab 80:2800–2805, 1995
Park BS, Park JS, Lee DY, Youn JI, Kim IG: Vitamin D receptor polymorphism is associated with psoriasis. J Invest Dermatol 112:113–116, 1999
Bellamy R, Ruwnede C, Corrah T, McAdam KP, Thursz M, Whittle HC, Hill AV: Tuberculosis and chronic hepatitis B virus infection in Africans and variation in the vitamin D receptor gene. J Infect Dis 179:721–724, 1999
Roy S, Frodsham A, Saha B, Hazra SK, Mascie-Taylor CG, Hill AV: Association of vitamin D receptor genotype with leprosy type. J Infect Dis 179:187–191, 1999
Laurin JM, Lindor KD: Primary biliary cirrhosis. Dig Dis 12:331–350, 1994
Heathcote J: Treatment of primary biliary cirrhosis. J Gastroenterol Hepatol 11:605–609, 1996
Lindor KD: Management of osteopenia of liver disease with special emphasis on primary biliary cirrhosis. Semin Liver Dis 13:367–373, 1993
Crippin JS, Jorgensen RA, Dickson ER, Lindor KD: Hepatic osteodystrophy in primary biliary cirrhosis: effects of medical treatment. Am J Gastroenterol 89:47–50, 1994
Reichel H, Koeffler HP, Norman AW: The role of vitamin D endocrine system in health and disease. N Engl J Med 320:980–991, 1989
Casteels K, Bouillon R, Waer M, Mathieu C: Immunomodulatory effects of 1,25-dihydroxyvitamin D3. Curr Opin Nephrol Hypertens 4:313–318, 1995
Manolagas SC, Yu XP, Girasole G, Bellido T: Vitamin D and the hematolymphopoietic tissue: A 1994 update. Semin Nephrol 14:129–143, 1994
Buts JP, DeKeyser N, Collette E, Bonsignore M, Lambotte L, Desjeux JF, Sokal EM: Intestinal transport of calcium in rat biliary cirrhosis. Pediatr Res 40:533–541, 1996
Mehal WZ, Gregory WL, Lo YM, Cross SJ, Fleming KA, Bassendine MF, James OF, Campbell RD, Chapman RW, Rosenberg WM: Defining the immunogenetic susceptibility to primary biliary cirrhosis. Hepatology 20:1213–1219, 1994
Agarwal K, Jones DE, Bassendine MF: Genetic susceptibility to primary biliary cirrhosis. Eur J Gastroenterol Hepatol 11:603–606, 1999
Mella JG, Roschmann E, Maier KP, Volk BA: Association of primary biliary cirrhosis with the allele HLA-DPB1*0301 in a German population. Hepatology 21:398–402, 1995
Gordon MA, Oppenheim E, Camp NJ, di Giovine FS, Duff GW, Gleeson D: Primary biliary cirrhosis shows an association with genetic polymorphism of tumour necrosis factor alpha promoter region. J Hepatol 31:242–247, 1999
Yu XP, Hustmyer FG, Garvey WT, Manolagas SC: Demonstration of a 1,25-dihydroxyvitamin D3-responsive protein in human lymphocytes: immunologic crossreactivity and inverse regulation with the vitamin D receptor. Proc Natl Acad Sci USA 88:8347–8351, 1991
Muller K, Svenson M, Bendtzen K: 1 alpha,25-Dihydroxyvitamin D3 and a novel vitamin D analogue MC 903 are potent inhibitors of human interleukin 1 in vitro. Immunol Lett 17:361–365, 1988
Riancho JA, Zarrabeitia MT, de Francisco AL, Amado JA, Napal J, Arias M, Gonzalez-Macias J: Vitamin D therapy modulates cytokine secretion in patients with renal failure. Nephron 65:364–368, 1993
Clavreul A, D'hellencourt CL, Montero-Menei C, Potron G, Couez D: Vitamin D differentially regulates B7.1 and B7.2 expression on human peripheral blood monocytes. Immunology 95:272–277, 1998
Kitajima I, Maruyama I, Matsubara H, Osame M, Igata A: Immune dysfunction in hypophosphatemic vitamin D-resistant rickets: Immunoregulatory reaction of 1 alpha(OH) vitamin D3. Clin Immunol Immunopathol 53:24–31, 1989
Lemire JM, Archer DC, Reddy GS: 1,25-Dihydroxy-24-OXO-16ene-vitamin D3, a renal metabolite of the vitamin D analog 1,25-dihydroxy-16ene-vitamin D3, exerts immunosuppressive activity equal to its parent without causing hypercalcemia in vivo. Endocrinology 135:2818–2821, 1994
Mathieu C, Waer M, Laureys J, Rutgeerts O, Bouillon R: Prevention of autoimmune diabetes in NOD mice by 1,25-dihydroxyvitamin D3. Diabetologia 37:552–558, 1994
EURODIAB Substudy 2 Study Group: Vitamin D supplement in early childhood and risk for Type I (insulin-dependent) diabetes mellitus. Diabetologia 42:51–54, 1999
