Association of CYP2C9 Genetic Variants with Vitiligo

BACKGROUND: Vitiligo is a depigmenting skin disorder in which genetic factors play an important role. OBJECTIVE: To examine the association of CYP2C9 *1/*2/*3 gene polymorphism with vitiligo. METHODS: In this case controlled study, 95 Saudi patients with vitiligo (50 men and 45 women), with a mean age of 27.3 years, were analyzed. Patients were compared to 86 healthy controls from the same locality (76 men and 10 women), with a mean age of 20.1 years. In all participants, DNA was extracted and processed for characterization of 2C9 *1/*2/*3 gene variants using real time-polymerase chain reaction. RESULTS: Vitiligo patients have a significantly higher CYP2C9 *3 allele carriage rate compared to controls (32.7% versus 4.7%, p=0.00, odds ratio=9.9, 95% confidence interval=3.3~29.6). On the other hand, frequencies of CYP2C9 *2 genotypes and alleles did not show any significant difference between vitiligo cases and controls. When the frequencies of CYP2C9 genotypes were compared among subgroups of age, gender, family history, and disease patterns, the cases with positive consanguinity had significantly higher frequencies of homozygous genotypes than others (p=0.029). CONCLUSION: CYP2C9 *3 allele carriage is probably associated with vitiligo susceptibility.

Association of interleukin 4 [-590 T/C] and interleukin 4 receptor [Q551R A/G] gene polymorphisms with acne vulgaris

Acne vulgaris is a common skin disorder. The complete etiology of this disease remains to be identified; however, it seems that aberrant expression of cytokine genes might be a contributing factor. This study aimed to investigate the association of genetic polymorphisms related to interleukin 4 [IL-4] promotor and receptor [IL-4R] genes as inflammatory modulators with acne vulgaris. A case-control study 95 acne patients recruited from outpatient dermatology clinics affiliated with Qassim University, Qassim, Saudi Arabia. Acne patient data were compared with 87 normal healthy unrelated controls from the same locality. The genomic DNA was extracted and processed using the real-time polymerase chain reaction amplification for characterization of polymorphisms related to IL-4 [-590 T/C] and IL-4R [Q551R A/G] genes. Acne patients compared to controls showed no significant difference in the frequencies of IL-4 [-590 T/C] polymorphic genotypes [P=.8], yet had a highly significant difference in IL-4R [Q551R A/G] genotypes [P<.001]. The frequencies of the mutant genotype IL-4R GG as well as the allele IL-4R G were significantly higher in cases of acne than in controls. Furthermore, acne cases showed higher frequencies of combined genotypes IL4R_GG with IL-4_CC, CT, or TT. However, no significant difference was noted on comparing subgroups related to disease severity or response to treatment [P>.05]. This study provides evidence for a significant association of IL-4R [Q551R A/G] genetic polymorphisms with the susceptibility rather than the severity of acne vulgaris

Knowledge and attitude towards vitiligo in Qassim Locality, Saudi Arabia

Vitiligo is a common depigmentary disorder of the skin with a prevalence rate of 1-2%. The social acceptance of people with vitiligo is largely dependent on perceptions of this disease in a given population and often represents a considerable problem for patients and their families. To know our population's attitude towards vitiligo, including people's knowledge of the disease, sources of information and reaction towards vitiligo patients. This cross-sectional survey was done using a self-administered questionnaire. Subjects were recruited from the graduate students, and employees of Qassim University from April, 2006 to July, 2006. The data were collected and analyzed using Statistical Program for Social Sciences [SPSS release 15.0]. p<0.05 was accepted for statistical significance. The study included 423 subjects; 325 [76.2%] were males and 98 [23.8%] were females. One hundred and thirty five subjects [31.9%] had no information about vitiligo while 78.7% of them reported that available sources of information about the disease in general are not enough. The main source of information for males was their physicians and for females were the newspapers [p>0.05] The disease was regarded as genetically transmissible by 58.2% and 55.6% thought it could be aggravated by stress. About 83% of surveyed subjects declined to marry a diseased person. Community education is needed to clear some false perceptions in the mind of general population regarding vitiligo. This chronic skin disease prevents healthy life style, and better understanding of this disease by general public can result in better adaptation of vitiligo patients in the society