TNFR 2 M196R polymorphism and acne vulgaris in Han Chinese: A case-control study

Abstract

In this case-control study, the relationship between M196R (676 T-->G) variant in exon 6 of tumor necrosis factor receptor type 2 (TNFR2) gene and genetic susceptibility of acne vulgaris in Han Chinese was investigated. A total of 93 acne vulgaris patients and 90 healthy subjects from Han Chinese ethnic group were enrolled in this study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was adopted to analyze the single nucleotide polymorphisms (SNPs) of TNFR2 M196R gene, and to examine the association between acne vulgaris and the polymorphisms in TNFR2 M196R gene. The relationship between different genotypes and the susceptibility of acne vulgaris was analyzed. The results showed that there was significant difference in the frequency of the genotype M/R+R/R in the TNFR2 M196R genetic polymorphisms between acne vulgaris patients and healthy controls (chi2=4.343; P=0.037; OR=1.899; 95% CI: 1.036-3.445); and there was significant difference in the allele (R) frequency between acne vulgaris patients and healthy controls (chi2=5.588; P=0.018; OR=1.838; 95% CI: 1.105-3.057). It was concluded that the high frequency of 196R allele in the functional M196R polymorphism of TNFR2 is a risk factor for acne vulgaris in Han Chinese.

Association of <b><i>HSD17B3</i></b> and <b><i>HSD3B1</i></b> Polymorphisms with Acne Vulgaris in Southwestern Han Chinese

“…Research in the Chinese population has further demonstrated that familial factors are involved in the etiopathogenesis of acne vulgaris in the Chinese population [1,24]. In previous studies, the candidate gene selection focused on inflammatory reactions-related genes [26,27,28] and androgen-related genes [7,12,13]. …”

Acne and hidradenitis suppurativa

“…66 In 2010, heterozygous mutations were reported in the c-secretase genes PSENEN, PSEN1 and NCSTN in six Chinese multiplex kindreds, all showing full cosegregation. 67 One of these genes, NCSTN, lies within the previously reported region of linkage on chromosome 1. 66 Mutations have since been reported in two British, six Chinese, one Japanese and three French multiplex kindreds, as well as four apparently sporadic cases.…”

“…Until about 10 years ago, only one putative genetic locus had been reported in HS (a 80‐cM locus on chromosome 1 1p21·1–1q25·3) . In 2010, heterozygous mutations were reported in the γ‐secretase genes PSENEN , PSEN1 and NCSTN in six Chinese multiplex kindreds, all showing full cosegregation . One of these genes, NCSTN , lies within the previously reported region of linkage on chromosome 1 .…”

“…66 Mutations have since been reported in two British, six Chinese, one Japanese and three French multiplex kindreds, as well as four apparently sporadic cases. [68][69][70][71][72][73][74] To date, eighteen mutations have been reported in NCSTN, three in PSE-NEN and one in PSEN1, 67,[70][71][72][73]75 of which four are nonsense mutations, seven result in frameshifts, seven result in altered splicing and four are missense mutations.…”

“…13 Several candidate gene studies were performed in genes of known factors involved in acne. These successfully identified a higher than expected rate of mutations in the genes of TNFa [93][94][95][96][97] or the TNF receptor, 67 Toll-like receptor (TLR)2, 67 IL-1a and IL-6. 98 Also identified were genes involved in metabolism, genes in the cytochrome P450 family and those affecting hormone metabolism, such as the androgen receptor.…”