Inversa acne (hidradenitis suppurativa): a case report and identification of the locus at chromosome 1p21.1-1q25.3.
Acne inversa (hidradenitis suppurativa) is a chronic relapsing inflammatory skin disease characterized by recurrent draining sinuses and abscesses, predominantly in skin folds that carry terminal hairs and apocrine glands. The genetic basis for this disease is unknown. In this study, we performed a genome-wide scan in a four-generation Chinese family to map the chromosome location of the responsible gene. We first identified a locus at chromosome 1p21.1-1q25.3 with the maximum logarithm of odds (LOD) score of 3.26 at the marker D1S2624 (at recombination fraction=0.00). The other two-point LOD scores >/=3 were observed at markers D1S2695, D1S2726, D1S252, and D1S2777. Haplotype analysis localized this locus to a 76 Mb region flanked by D1S248 and D1S2711. This is the first locus for the inversa acne and will be a starting point towards understanding the molecular mechanisms of this disease.
Institute of Dermatology and Department of Dermatology at No.1 Hospital, Anhui, Medical University, Hefei, Anhui, China.
Min
M
Gao
Pei-Guang
PG
Wang
Yong
Y
Cui
Sen
S
Yang
Yu-Hui
YH
Zhang
Da
D
Lin
Kai-Yue
KY
Zhang
Yan-Hua
YH
Liang
Liang-Dan
LD
Sun
Kai-Lin
KL
Yan
Feng-Li
FL
Xiao
Wei
W
Huang
Xue-Jun
XJ
Zhang
D000328:Adult; D044466:Asian People / Q000235:genetics; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D017497:Hidradenitis Suppurativa / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D010375:Pedigree
D005819:Genetic Markers