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• W1997229172 abstract "Psoriasis vulgaris is a chronic inflammatory and hyperproliferative skin disease that has a complex genetic basis including a paternal effect (Traupe et al., 1992Traupe H. van Gurp P.J.M. Happle R. Boezeman J. van de Kerkhof P.C.M. Psoriasis vulgaris, fetal growth, and genomic imprinting.Am J Med Genet. 1992; 42: 649-654Crossref PubMed Scopus (47) Google Scholar;Burden et al., 1998Burden A.D. Javed S. Bailey M. Hodgins M. Ckonnor M. Tillman D. Genetics of psoriasis: paternal inheritance and a locus on chromosome 6p.J Invest Dermatol. 1998; 110: 958-960Abstract Full Text Full Text PDF PubMed Scopus (127) Google Scholar). Gene mapping studies have disclosed a susceptibility locus within the HLA region on chromosome 6p (Trembath et al., 1997Trembath R.C. Clough R.L. Rosbotham J.L. et al.Identification of a major susceptibility locus on chromosome 6p and evidence for further disease loci revealed by a two stage genome-wide search in psoriasis.Hum Molec Genet. 1997; 6: 813-820Crossref PubMed Scopus (440) Google Scholar;Nair et al., 1997Nair R.P. Henseler T. Jenisch S. et al.Evidence for two psoriasis susceptibility loci (HLA and 17q) and two novel candidate regions (16q and 20p) by genome-wide scan.Hum Molec Genet. 1997; 6: 1349-1356Crossref PubMed Scopus (357) Google Scholar;Burden et al., 1998Burden A.D. Javed S. Bailey M. Hodgins M. Ckonnor M. Tillman D. Genetics of psoriasis: paternal inheritance and a locus on chromosome 6p.J Invest Dermatol. 1998; 110: 958-960Abstract Full Text Full Text PDF PubMed Scopus (127) Google Scholar). This region contains a number of genes that are involved in the regulation and modulation of inflammatory reactions and from a pathophysiologic perspective are potential candidate genes for psoriasis. One of these genes is the tumor necrosis factor (TNF)-α that in vitro has an antiproliferative effect on normal human keratinocytes (Malkani et al., 1993Malkani A.K. Baker B.S. Garioch J.J. Powles A.V. Lewis H.M. Valdimarsson H. Fry L. Normal response to tumor necrosis factor-alpha and transforming growth factor-beta by keratinocytes in psoriasis.Exp Dermatol. 1993; 2: 224-230Crossref PubMed Scopus (14) Google Scholar). A mutation in the promoter region of the TNF-α gene at position –308 relative to the transcriptional start of the gene is associated with a higher constitutive and inducible transcription of the gene (Wilson et al., 1997Wilson A.G. Symons J.A. McDowell T.L. McDevitt H.O. Duff G.W. Effects of a polymorphism in the human tumor necrosis factor alpha promoter on transcriptional activation.Proc Natl Acad Sci USA. 1997; 94: 3195-3199Crossref PubMed Scopus (2041) Google Scholar). A second polymorphism in the promoter region has been identified at position –238, but the functional consequences of this mutation are not yet clear (Pociot et al., 1995Pociot F. D’Alfonso S. Compasso S. Scorza R. Richiardi P.M. Functional analysis of a new polymorphism in the human TNF alpha gene promoter.Scand J Immunol. 1995; 42: 501-504Crossref PubMed Scopus (145) Google Scholar). Recently,Höhler et al., 1997Höhler T. Kruger A. Schneider P.M. et al.A TNF alpha promoter polymorphism is associated with juvenile onset psoriasis and psoriatic arthritis.J Invest Dermatol. 1997; 109: 562-565Abstract Full Text PDF PubMed Scopus (175) Google Scholar reported in this journal an association between this latter polymorphism of the TNF-α gene and early onset psoriasis, and for the polymorphism at position –308 similar proportions were found in patients and controls. Höhler et al. performed a classical case/control designed study and examined 60 patients with psoriasis vulgaris of early onset and 99 controls derived from routine paternity cases studied at the Institute of Legal Medicine from Mainz, Germany. We found the results of Höhler et al. very intriguing and therefore decided to examine a second cohort of German psoriasis patients with regard to the TNF-α promoter polymorphism at –238, and were especially interested whether there would be differences between paternal and maternal cases. This latter question is of interest because of the paternal effect associated with the 6p psoriasis susceptibility locus (Burden et al., 1998Burden A.D. Javed S. Bailey M. Hodgins M. Ckonnor M. Tillman D. Genetics of psoriasis: paternal inheritance and a locus on chromosome 6p.J Invest Dermatol. 1998; 110: 958-960Abstract Full Text Full Text PDF PubMed Scopus (127) Google Scholar). To evaluate the suggested association we decided to use the transmission disequilibrium test (TDT) (Spielman et al., 1993Spielman R.S. McGinnis R.E. Ewens W.J. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM).Am J Hum Genet. 1993; 52: 506-516PubMed Google Scholar). For the TDT trios comprising a proband and his two parents are studied, and the test considers parents who are heterozygous for an allele associated with disease and evaluates the frequency with which that allele is transmitted to affected offspring. In each trio the untransmitted alleles of the parents serve as a control. Altogether 83 index patients (40 females and 43 males) from the Department of Dermatology of the University of Münster, of the Bad Bentheim Fachklinik and of the University of Berlin (Charité hospital) suffering from psoriasis vulgaris of early onset were studied and EDTA blood was drawn for DNA analysis from them and from their parents. To do this, usually visits at the home of these nuclear families were organized. During these visits both parents were also examined clinically to establish whether or not they were affected by psoriasis vulgaris. Twenty of the index cases had an affected father (24%) and 22 had an affected mother (27%), whereas 41 cases (49%) were sporadic and no family history could be obtained. The mean age of onset of psoriasis in the index patients was 12.8 y for females compared with 16.51 y in male index patients. In all trios a 328 bp fragment – from nucleotide 396 until nucleotide 69 of the 5′ region of the TNF-α gene – was amplified using the TNF forward primer from the nucleotide –396(5′-TTCCTGCATCCTGTCTGGAA-3′) and the reverse primer from TNF-69 (5′-CAGCGGAAAACTTCCTTGGT-3′) (D’Alfonso and Richiardi, 1994D’Alfonso S. Richiardi P.M. A polymorphic variation in a putative regulation box of the TNFA promoter region.Immunogenetics. 1994; 39: 150-154Crossref PubMed Scopus (367) Google Scholar). The polymerase chain reaction products were separated electrophoretically on a 2% agarose gel and then vacuum-blotted onto a Biodyne-B-Membrane. To identify the promoter polymorphisms we used radioactively end-labeled allele specific oligonucleotides. For the mutation at –238 the oligonucleotides 5′-CCCTGCTCCGATTCCGAG-3′ and 5′-CCTCGGAATCAGAGCAGGG-3′ (D’Alfonso and Richiardi, 1994D’Alfonso S. Richiardi P.M. A polymorphic variation in a putative regulation box of the TNFA promoter region.Immunogenetics. 1994; 39: 150-154Crossref PubMed Scopus (367) Google Scholar) were used. The hybridization temperature was 58°C and the wash out started with a temperature of 60°C and was repeated three times with an increment of 2°C each time. For the –308 polymorphism the oligonucleotides 5′CCCGTCCCCATGCCCCT-3′ and 5′-AGGGGCATGAGGACGGGG-3′ and a hybridization temperature of 63°C were used. The wash out started with 65°C and was repeated four times with a temperature increment of 2°C every time. A total of 30 patients were additionally sequenced using a polymerase chain reaction-based sequencing technique. For statistical analysis the TDT test as modified byTerwilliger, 1995Terwilliger J.D. A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci.Am J Hum Genet. 1995; 56: 777-787PubMed Google Scholar was used. Analyses were carried out for the entire group and for cases with a maternal and paternal transmission separately. Similar toHöhler et al., 1997Höhler T. Kruger A. Schneider P.M. et al.A TNF alpha promoter polymorphism is associated with juvenile onset psoriasis and psoriatic arthritis.J Invest Dermatol. 1997; 109: 562-565Abstract Full Text PDF PubMed Scopus (175) Google Scholar we find no association between the polymorphism at –308 of the TNF-α gene and psoriasis. When we look at the data from the control group ofHöhler et al., 1997Höhler T. Kruger A. Schneider P.M. et al.A TNF alpha promoter polymorphism is associated with juvenile onset psoriasis and psoriatic arthritis.J Invest Dermatol. 1997; 109: 562-565Abstract Full Text PDF PubMed Scopus (175) Google Scholar concerning the –238 locus, then the G/A constellation is found only in 7% of their controls and there are no homozygotes. We have used these control group data and compared them with those found in our index patient group. When we follow this kind of design used by Höhler we find a seemingly strong association (p =0.001; Table I); however, when tested by the TDT (Table II) we cannot confirm an association and find a p value of 0.10. Likewise, the separate analysis of paternally transmitted cases resulted in a p value of 0.28 and of maternally transmitted cases in a p value of 0.5.Table IEvaluation of TNF-α promoter polymorphisms by Chi-square test under a case/control designIndex patients with psoriasisParentsControls (Mainz Data)n%n%n%TNF-α–238aTest statistics for TNF-α–238: G/A and A/A versus G/G for index patients versus Mainz controls taken fromHöhler et al. (1997) gives Chi square of 16.193, p = 0.001.G/G5769127779293G/A2631392477A/A000000Total8316699TNF-α–308bTest statistics for TNF-α–308: G/A and A/A versus G/G for index patients versus Mainz controls taken fromHöhler et al. (1997) gives Chi square of 1.147, p = 0.284.G/G6175112697374G/A182243272020A/A111166Total8116299a Test statistics for TNF-α–238: G/A and A/A versus G/G for index patients versus Mainz controls taken fromHöhler et al., 1997Höhler T. Kruger A. Schneider P.M. et al.A TNF alpha promoter polymorphism is associated with juvenile onset psoriasis and psoriatic arthritis.J Invest Dermatol. 1997; 109: 562-565Abstract Full Text PDF PubMed Scopus (175) Google Scholar gives Chi square of 16.193, p = 0.001.b Test statistics for TNF-α–308: G/A and A/A versus G/G for index patients versus Mainz controls taken fromHöhler et al., 1997Höhler T. Kruger A. Schneider P.M. et al.A TNF alpha promoter polymorphism is associated with juvenile onset psoriasis and psoriatic arthritis.J Invest Dermatol. 1997; 109: 562-565Abstract Full Text PDF PubMed Scopus (175) Google Scholar gives Chi square of 1.147, p = 0.284. Open table in a new tab Table IIEvaluation of TNF-α promoter polymorphisms by TDTTransmitted alleles in heterozygous index patientsUntransmitted alleles in parentsTDTaThe alpha test version for computing TDT-like likelihood ratio statistics based onTerwilliger (1995) was used.One-sided p valuebSeparate evaluation of paternal transmission gave for the –238 locus a p value of 0.28 and for the –308 locus a p value of 0.50. Likewise maternal transmission gave a p value of 0.50 for the –238 locus and a p value of 0.43 for the –308 locus.TNF-α–238cMaximum likelihood estimate of TDT lambda = 0.64, p value = 0.10.G15262.950.99A26150.11TNF-α–308dMaximum likelihood lambda = 0.50, p value = 0.50.G24190.580.47A19240.580.97a The alpha test version for computing TDT-like likelihood ratio statistics based onTerwilliger, 1995Terwilliger J.D. A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci.Am J Hum Genet. 1995; 56: 777-787PubMed Google Scholar was used.b Separate evaluation of paternal transmission gave for the –238 locus a p value of 0.28 and for the –308 locus a p value of 0.50. Likewise maternal transmission gave a p value of 0.50 for the –238 locus and a p value of 0.43 for the –308 locus.c Maximum likelihood estimate of TDT lambda = 0.64, p value = 0.10.d Maximum likelihood lambda = 0.50, p value = 0.50. Open table in a new tab To address the question why the TDT does not confirm the result obtained in the case control design, we decided to check the validity of the control group by performing a Hardy Weinberg equilibrium test. For the –238 polymorphism the allele distribution followed the genetic expectations, whereas this was clearly not the case for the –308 variant (Table III). This lack of a genetic equilibrium for the allele distribution in the Mainz control group suggests that these controls are not a representative population sample.Table IIITest for Hardy–Weinberg-Equilibrium in the Mainz control group for the –308 polymorphismChi-square (total, DF = 1)6.413165Probability (Chi-square, DF = 1)0.011328Observed G/G73Expected G/G69.59Chi-square0.167510Observed G/A20Expected G/A26.83Chi-square1.737921Observed A/A6Expected A/A2.59Chi-square4.507734Conclusion: There is a significant deviation from a Hardy–Weinberg-equilibrium in the control group. Open table in a new tab We conclude that the association found in our patients in the case control design using the Mainz control group data cannot be confirmed when a TDT is performed. This casts doubts on the validity of the results obtained in the case control study ofHöhler et al., 1997Höhler T. Kruger A. Schneider P.M. et al.A TNF alpha promoter polymorphism is associated with juvenile onset psoriasis and psoriatic arthritis.J Invest Dermatol. 1997; 109: 562-565Abstract Full Text PDF PubMed Scopus (175) Google Scholar, because the design of case control studies allows for type 1 errors that can occur when the control group does not truely represent the general population. In contrast, the TDT circumvents the difficult matching of the control group as it considers as a control the untransmitted alleles of the parents. Therefore the TDT is today considered as a powerful instrument in genetic studies of complex diseases and recently allowed, for example, the mapping of a locus for autistic disorders (Cook et al., 1998Cook Jr, E.H. Courchesne R.Y. Cox N.J. et al.Linkage-disequilibrium mapping of autistic disorder, with 15q11–13 markers.Am J Hum Genet. 1998; 62: 1077-1083Abstract Full Text Full Text PDF PubMed Scopus (311) Google Scholar). This study was supported by the Deutsche Forschungsgemeinschaft (grants Tr 228/5–1, Wi 155/1–1, and Re 679/10–1)." @default.
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• W1997229172 title "Promoter Polymorphism at –238 of the Tumor Necrosis Factor Alpha Gene is Not Associated with Early Onset Psoriasis when Tested by the Transmission Disequilibrium Test" @default.
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