1.
Marie Unna hereditary hypotrichosis: a recurrent c.74C>T mutation in the U2HR gene and literature review.
Yang, J, Liang, Y, Zeng, K, Huang, L, Zheng, M
International journal of dermatology. 2014;(2):206-9
Abstract
Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant form of genetic hair loss. U2HR gene dysfunction has been identified as the pathogenic change of this disease. Herein we present a four-generation Chinese family of 15 patients carrying MUHH, and detected a recurrent missense mutation in U2HR gene, c.74C>T (p.P25L), previously reported in a Jewish Ashkenazi MUHH family. The literature review concluded that there were 16 mutations of the U2HR gene in patients with MUHH of different origins, and indicated two mutation hot spots (amino acids 1-7 and 24-28) but no clear genotype-phenotype correlations.
2.
The association between the Lys751Gln polymorphism in the XPD gene and the risk of bladder cancer.
Xiong, T, Yang, J, Wang, H, Wu, F, Liu, Y, Xu, R, Lv, Z, Xue, P, Cao, W, Zhang, Y
Molecular biology reports. 2014;(4):2629-34
Abstract
The Lys751Gln polymorphism in the XPD gene have been suggested as a risk factor for bladder cancer, however the results were inconclusive. The aim of the current study is to assess the association by meta-analysis. A total of 15 case-control studies concerning the association between the XPD Lys751Gln polymorphism and bladder cancer risk were included in the meta-analysis. The results suggested that the Lys751Gln polymorphism was not associated with an increased risk of bladder cancer in the dominant model (OR = 1.03, 95 % CI 0.95-1.11, P = 0.53 for Lys/Gln+Gln/Gln vs. Lys/Lys) in overall analysis. In the subgroup analysis by ethnicity, no significant association was found in Caucasians or Asians. Other comparatives suggested a slight significant association between the polymorphism with the risk of bladder cancer in the recessive comparative (OR = 1.14, 95 % CI 1.02-1.29, P = 0.03). The current meta-analysis indicated that the Lys751Gln polymorphism in the XPD gene might be a risk factor for bladder cancer. In the future, more large-scale case-control studies are needed to validate our results.