Analyses of genetic model of psoriasis vulgaris / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the possible genetic model of psoriasis vulgaris.</p><p><b>METHODS</b>The complex segregation analysis and heritability calculation were performed with the aid of Penrose method, Falconer regression method and SAGE-REGTL program.</p><p><b>RESULTS</b>It was found that in 1043 patients with psoriasis vulgaris, 305 patients (29.24%) have the family history of psoriasis, and 738 patients have not the family history. A ratio of s/q approached 1/(square root of q) with Penrose method, and the heritability values of psoriasis in the first-degree and second-degree relatives were 67.04%, 46.6% respectively. By complex segregation analysis, Mendelian, non-major-gene model and environment model were rejected for psoriasis.</p><p><b>CONCLUSION</b>The results suggest that psoriasis follows a pattern of polygenetic or multifactorial inheritance rather than single-gene inheritance.</p>

Analysis of Hereditary Types and Clinical Features with Anhidrotic Ectodermal Dy splasia / 中华皮肤科杂志

Objective To analyze genetic types and clinical features with anhi drotic ectodermal dysplasia (EDA). Methods The genetic types and clinical manife stations of 35 patients with EDA in five families were analyzed by genealogical investigation and clinical examination. Results① All patients were males in fam iliesⅠ ,Ⅱ ,Ⅳ andⅤ . The females in these families were recessive carriers. T herefore, the genetic types were X linked EDA. There were 8 males and 6 female s in familyⅢ . The proportion of males to females approximated to 1∶ 1, indica ting autosomal dominant inheritant EDA.② In families with X linked EDA, Types Ⅰ andⅡ were divided according to clinical manifestations of the families. The patients in familiesⅠ andⅣ belonged to typeⅠ , with the characteristics of sp ecial appearances, such as defects in the development of hair and sweat glands, hypophrenia and bad sights. Intelligence and physical development were lower tha n those of general population. However, the patients in familiesⅡ andⅤ belonge d to typeⅡ . It was characterized by sparse hair, hypohidrosis and inborn teeth less or teeth dysplasia. Intelligence and physical development were the same as general population. In the family with autosomal dominant inheritant EDA, patien ts manifested hypohidrosis only, and had no other characteristics.③ Histopathol ogy showed defects in the development of hair follicles and sweat glands in pati ents with X linked EDA, but dysplasia of sweat glands and congenital defect of hair follicles in patients with autosomal dominant inheritant EDA. Conclusion T here are variations in hereditary types and clinical manifestations of patients with EDA.

Analyses of Genetic Epidemiology of Psoriasis Vulgaris / 中华皮肤科杂志

Objective To investigate the effects of genetic factors on the onset of psoriasis. Methods Seven hundred and twenty patients with psoriasis vulgaris were studied by questionnaire. Results① For the male and female patients, the peak ages of the first onset were 20～ 29 and 10～ 19 years, respectively, and the average ages were 27.57? 12.18 and 23.01? 12.40 years, respectively.② In 720 psoriatics, 212 cases (29.4％ ) reported to have a family history of psoriasis. The age of onset was earlier in man with family history than that in man without family history (P0.05).④ The heritabilities of psoriasis were 71.07％? 2.05％ in first degree relatives and 36.77％? 5.17％ in second degree relatives. Conclusion The results show that psoriasis vulgaris may be a multigenic inheritable disease, and the genetic factors play an important role in the pathogenesis.