Mapping of a novel autosomal recessive hypotrichosis locus on chromosome 10q11.23–22.3

Naz, Gul; Ali, Ghazanfar; Naqvi, Syed Kamran-ul-Hassan; Azeem, Zahid; Ahmad, Wasim

doi:10.1007/s00439-009-0784-9

Cited by 11 publications

(13 citation statements)

References 30 publications

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“…In independent studies, rs10995195 in ZNF365 , which is 27kb upstream from and only weakly correlated (r 2 =0.1) with rs16917302, has been associated with breast cancer risk (8) and with mammographic density (17) in the general population. In addition, a cluster of SNPs located 154kb from rs16917302 in isoform D of ZNF365 has been associated with Crohn’s disease (18–20), and the region has also been implicated in family-based linkage analyses with uric acid nephrolithiasis (21) and hypotrichosis (22). It is unclear whether there is genetic or biologic linkage between these seemingly disparate phenotypes.…”

Section: Discussionmentioning

confidence: 99%

Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Couch

Gaudet

Antoniou

et al. 2012

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Background Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer and with breast cancer by tumor histopathology for these variants in mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Methods Genotyping data for 12,599 BRCA1 and 7,132 BRCA2 mutation carriers from 40 studies were combined. Results We confirmed associations between rs8170 at 19p13.1 and breast cancer risk for BRCA1 mutation carriers (hazard ratio (HR)=1.17; 95%CI 1.07–1.27; p=7.42×10−4) and between rs16917302 at ZNF365 (HR=0.84; 95%CI 0.73–0.97; p=0.017) but not rs311499 at 20q13.3 (HR=1.11; 95%CI 0.94–1.31; p=0.22) and breast cancer risk for BRCA2 mutation carriers. Analyses based on tumor histopathology showed that 19p13 variants were predominantly associated with estrogen receptor (ER)-negative breast cancer for both BRCA1 and BRCA2 mutation carriers, whereas rs16917302 at ZNF365 was mainly associated with ER-positive breast cancer for both BRCA1 and BRCA2 mutation carriers. We also found for the first time that rs67397200 at 19p13.1 was associated with an increased risk of ovarian cancer for BRCA1 (HR=1.16; 95%CI 1.05–1.29; p=3.8×10−4) and BRCA2 mutation carriers (HR=1.30; 95%CI 1.10–1.52; p=1.8×10−3). Conclusions 19p13.1 and ZNF365 are susceptibility loci for ovarian cancer and ER subtypes of breast cancer among BRCA1 and BRCA2 mutation carriers. Impact These findings can lead to an improved understanding of tumor development and may prove useful for breast and ovarian cancer risk prediction for BRCA1 and BRCA2 mutation carriers.

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Section: Discussionmentioning

confidence: 99%

Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Couch

Gaudet

Antoniou

et al. 2012

Cancer Epidemiology, Biomarkers &Amp; Prevention

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“…607365) at chromosome 3q27, 4 G‐protein‐coupled‐receptor ( P2RY5 , MIM no. 609239) on chromosome 13q14 5,6 and an unknown gene on chromosome 10q11.23‐22.237, 7 further elucidated both genotypic and phenotypic variability in development of hair. Among all these disease causing genes, HR harbors the highest number of mutations resulting in hair loss in humans.…”

Section: Introductionmentioning

confidence: 98%

Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families

Azeem

Wasif

Basit

et al. 2011

The Journal of Dermatology

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Congenital atrichia with papular lesions (APL; Mendelian Inheritance in Man no. 209500) is a rare form of irreversible alopecia that follows an autosomal recessive mode of inheritance. Patients with this form of alopecia show hair loss soon after birth with the development of papular lesions of keratin-filled cysts over the body. Several studies have reported sequence variants in the human hairless (HR) gene as the underlying cause of this disorder. In the present study, we have reported four consanguineous families showing features of APL. Genotyping using microsatellite markers showed mapping of all four families to the hairless (HR) gene on chromosome 8p21.1. Further, DNA sequence analysis of the HR gene revealed three novel mutations including two nonsense (p.Cys690X, p.Arg819X) and a missense (p.Pro1157Arg) in the four families.

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“…A mutation in desmocollin-3 (DSC3, MIM 600271) gene, mapped on chromosome 18q21.1, causing hereditary hypotrichosis with recurrent skin vesicles (MIM 613102), has been reported recently by Ayub et al (2009). Most recently, Naz et al (2010) mapped the sixth autosomal recessive form of hypotrichosis with features of sparse scalp hair on chromosome 10q11. 23-22.3.…”

Section: Introductionmentioning

confidence: 96%

Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3–p22.3 in a Pakistani family and screening of the candidate genes

et al. 2010

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Hereditary hypotrichosis is a heterogeneous group of inherited hair loss disorders characterized by diffused or localized thinning or absence of hair affecting scalp, eyebrows and eyelashes, and other body parts. Over the past few years, at least four autosomal dominant and six autosomal recessive forms of hypotrichosis have been described. All these ten forms of hypotrichosis have been mapped on different human chromosomes and the corresponding genes have been identified in most of these cases. In the present study, we have described a six-generation Pakistani consanguineous family with an autosomal recessive transmission of hereditary hypotrichosis. All the five affected individuals of the family showed complete absence of scalp hair and sparse eyebrows and eyelashes. They were born with complete absence of scalp hairs. Facial hair of beard and mustaches were present in all the affected adult male individuals. Papules were observed only on scalp of the affected individuals. A scalp biopsy from an affected individual showed markedly reduced number of hair follicles. Human genome scan using polymorphic microsatellite markers mapped the disease locus on chromosome 7p21.3-p22.3, flanked by markers D7S1532 and D7S3047. A maximum two-point LOD score of 4.74 (theta = 0.00) was obtained at marker D7S481. The linkage interval spans 15.69 cM, which corresponds to 6.59 Mb according to the sequence-based physical map (Build 36.2). Mutation analysis of five potential candidate genes (GNA12, FOXK1, DAGLB, ZNF12, ACTB), located in the linkage interval, did not reveal any functional sequence variant.

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Mapping of a novel autosomal recessive hypotrichosis locus on chromosome 10q11.23–22.3

Cited by 11 publications

References 30 publications

Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families

Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3–p22.3 in a Pakistani family and screening of the candidate genes

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