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.
Gao
Min
M
Institute of Dermatology and Department of Dermatology at No.1 Hospital, Anhui, Medical University, Hefei, Anhui, China.
Wang
Pei-Guang
PG
Cui
Yong
Y
Yang
Sen
S
Zhang
Yu-Hui
YH
Lin
Da
D
Zhang
Kai-Yue
KY
Liang
Yan-Hua
YH
Sun
Liang-Dan
LD
Yan
Kai-Lin
KL
Xiao
Feng-Li
FL
Huang
Wei
W
Zhang
Xue-Jun
XJ
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