Insulin gene polymorphism and premature male pattern baldness in the general population

1999 ◽  
Vol 96 (6) ◽  
pp. 659-662 ◽  
Author(s):  
Justine A. ELLIS ◽  
Margaret STEBBING ◽  
Stephen B. HARRAP
Keyword(s):  
General Population ◽  
Gene Polymorphism ◽  
Polycystic Ovary ◽  
Growth Cycle ◽  
Hair Follicles ◽  
Insulin Gene ◽  
Male Pattern Baldness ◽  
Length Polymorphisms ◽  
Insulin Gene Polymorphism ◽  
Male Pattern

Insulin is found in hair follicles and may play a role in the regulation of androgen metabolism and the hair growth cycle, which are relevant to the loss of scalp hair known as male pattern baldness. An excess of dihydrotestosterone on balding scalp indicates that the condition is androgen dependent. Premature male pattern baldness may be the male phenotype of familial polycystic ovary syndrome, a condition characterized by high levels of androgens and insulin that has been linked to insulin gene polymorphism. Therefore, we studied possible associations between relevant insulin gene polymorphisms and premature male pattern baldness in the general community. We examined the distribution of three dimorphic restriction fragment length polymorphisms: HphI, PstI and FokI in cases consisting of 56 men aged 18–30 years with significant baldness, and in 107 control men aged 50 years or more with no indication of baldness. No significant differences between cases and controls in allele, genotype or haplotype frequencies were identified. We conclude that, in the general population, the insulin gene is not associated with premature male pattern baldness.

Insulin gene polymorphism and premature male pattern baldness in the general population

1999 ◽  
Vol 96 (6) ◽  
pp. 659 ◽  
Author(s):  
Justine A. ELLIS ◽  
Margaret STEBBING ◽  
Stephen B. HARRAP
Keyword(s):  
General Population ◽  
Gene Polymorphism ◽  
Insulin Gene ◽  
Male Pattern Baldness ◽  
Insulin Gene Polymorphism ◽  
Male Pattern

Association of AR rs6152G/A gene polymorphism with susceptibility to polycystic ovary syndrome in Chinese women

2010 ◽  
Vol 22 (5) ◽  
pp. 881 ◽  
Author(s):  
C. Y. Peng ◽  
X. Y. Long ◽  
G. X. Lu
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Gene Polymorphism ◽  
Fragment Length Polymorphism ◽  
Chinese Women ◽  
Polycystic Ovary ◽  
Central Feature ◽  
Ovary Syndrome ◽  
Male Pattern Baldness ◽  
The Relationship ◽  
Male Pattern

Hyperandrogenism is a central feature of polycystic ovary syndrome (PCOS). Androgens act via the androgen receptor (AR). The rs6152G/A AR gene polymorphism has been reported to be associated with male pattern baldness (MPB), which is a common characteristic of males in PCOS families. Therefore, we investigated the relationship between the rs6152G/A polymorphism and PCOS in Han Chinese women. The rs6152G/A AR gene polymorphism was screened by restriction fragment length polymorphism (RFLP) in 224 PCOS women and 223 control subjects from the Reproductive and Genetic Hospital of CITIC-XIANGYA in China. There was a significantly higher prevalence of genotypes containing the A allele in PCOS patients compared with controls (P < 0.05). Patients carrying the rs6152A allele had a 1.608-fold greater risk of developing polycystic ovary syndrome compared with rs6152GG homozygotes (OR = 1.608, CI = 1.008–2.597, P < 0.05). In conclusion, the individuals carrying the rs6152A allele had significantly higher susceptibility to polycystic ovary syndrome than those that were GG homozygotes.

Androgen Receptors in Dermal Papilla Cells of Scalp Hair Follicles in Male Pattern Baldness

2006 ◽  
Vol 642 (1) ◽  
pp. 448-451 ◽  
Author(s):  
M. B. HODGINS ◽  
R. CHOUDHRY ◽  
G. PARKER ◽  
R. F. OLIVER ◽  
C. A. B. JAHODA ◽  
...  
Keyword(s):  
Androgen Receptors ◽  
Scalp Hair ◽  
Dermal Papilla ◽  
Hair Follicles ◽  
Dermal Papilla Cells ◽  
Male Pattern Baldness ◽  
Male Pattern

scholarly journals Evidence for a functional interaction of WNT10A and EBF1 in male-pattern baldness

PLoS ONE ◽  
2021 ◽  
Vol 16 (9) ◽  
pp. e0256846
Author(s):  
Lara M. Hochfeld ◽  
Marta Bertolini ◽  
David Broadley ◽  
Natalia V. Botchkareva ◽  
Regina C. Betz ◽  
...  
Keyword(s):  
Molecular Mechanisms ◽  
Risk Allele ◽  
Hair Follicles ◽  
Luciferase Reporter ◽  
Pathophysiological Mechanism ◽  
Functional Interaction ◽  
Male Pattern Baldness ◽  
Risk Locus ◽  
Male Pattern

More than 300 genetic risk loci have been identified for male pattern baldness (MPB) but little is known about the exact molecular mechanisms through which the associated variants exert their effects on MPB pathophysiology. Here, we aimed at further elucidating the regulatory architecture of the MPB risk locus on chromosome (chr.) 2q35, where we have previously reported a regulatory effect of the MPB lead variant on the expression of WNT10A. A HaploReg database research for regulatory annotations revealed that the association signal at 2q35 maps to a binding site for the transcription factor EBF1, whose gene is located at a second MPB risk locus on chr. 5q33.3. To investigate a potential interaction between EBF1 and WNT10A during MPB development, we performed in vitro luciferase reporter assays as well as expression analyses and immunofluorescence co-stainings in microdissected human hair follicles. Our experiments confirm that EBF1 activates the WNT10A promoter and that the WNT10A/EBF1 interaction is impacted by the allelic expression of the MPB risk allele at 2q35. Expression analyses across different hair cycle phases and immunhistochemical (co)stainings against WNT10A and EBF1 suggest a predominant relevance of EBF1/WNT10A interaction for hair shaft formation during anagen. Based on these findings we suggest a functional mechanism at the 2q35 risk locus for MPB, where an MPB-risk allele associated reduction in WNT10A promoter activation via EBF1 results in a decrease in WNT10A expression that eventually results in anagen shortening, that is frequently observed in MPB affected hair follicles. To our knowledge, this study is the first follow-up study on MPB that proves functional interaction between two MPB risk loci and sheds light on the underlying pathophysiological mechanism at these loci.

scholarly journals Polycystic Ovaries Are Inherited as an Autosomal Dominant Trait: Analysis of 29 Polycystic Ovary Syndrome and 10 Control Families

1999 ◽  
Vol 84 (1) ◽  
pp. 38-43 ◽  
Author(s):  
A. Govind ◽  
M. S. Obhrai ◽  
R. N. Clayton
Keyword(s):  
Autosomal Dominant ◽  
Polycystic Ovary ◽  
Segregation Ratio ◽  
Autosomal Dominant Inheritance ◽  
Ultrasound Scan ◽  
Dominant Inheritance ◽  
Polycystic Ovaries ◽  
Ovary Syndrome ◽  
Male Pattern Baldness ◽  
Male Pattern

The aim of this study was to obtain evidence for the genetic basis of polycystic ovaries (PCO) and premature male pattern baldness (PMPB) by screening first-degree relatives of women affected by polycystic ovary syndrome (PCOS). Because of the high prevalence of PCO in the general population, we also studied first-degree relatives of ten asymptomatic control volunteers of reproductive age. The probands were recruited prospectively from infertility and endocrine clinics, where they presented with various clinical symptoms of PCOS. Each had PCO, on transvaginal ultrasound scan. The families of 29 probands and 10 volunteers agreed to take part in the study. Clinical, ultrasound, and biochemical parameters were used to define PCO/PCOS. All female relatives had an ovarian ultrasound scan and hormone profile performed. History was used to assign status in postmenopausal women. All male relatives were assessed for early onset (&lt;30 yr old) male pattern baldness, by photographs. All relatives were assigned affected (PCO/PMPB) or nonaffected status, and segregation analysis was performed. Of the relatives of 29 PCOS probands, 15 of 29 mothers (52%), 6 of 28 fathers (21%), 35 of 53 sisters (66%), and 4 of 18 brothers (22%) were assigned affected status. First-degree female relatives of affected individuals had a 61% chance of being affected. Of the first-degree male relatives, 22% were affected. Of a total of 71 siblings of PCOS probands, 39 were affected, giving a segregation ratio of 39/32 (55%), which is consistent with autosomal dominant inheritance for PCO/PMPB. In the control families, 1 of 10 probands (10%), 1 of 10 mothers (10%), no fathers, 2 of 13 sisters (15%), and 1 of 11 brothers (9%) were affected. Of a total of 24 siblings, 3 were affected (13%), giving a segregation ratio (observed/expected) of 3/12, which was significantly different from autosomal dominant inheritance. The inheritance of PCO and PMPB is consistent with an autosomal dominant inheritance pattern in PCOS families, perhaps caused by the same gene. There was no such genetic influence in families of women without PCOS. Sisters of PCOS probands with polycystic ovarian morphology were more likely to have menstrual irregularity and had larger ovaries and higher serum androstenedione and dehydroepiandrosterone-sulfate levels than sisters without PCO. This suggests a spectrum of clinical phenotype in PCOS families. Men with PMPB had higher serum testosterone than those without. Collectively, these data are consistent with a role for genetic differences in androgen synthesis, metabolism, or action in the pathogenesis of PCOS.

HLA-DR and the 5′ insulin gene polymorphism in insulin-dependent diabetes

Metabolism ◽  
1991 ◽  
Vol 40 (12) ◽  
pp. 1244-1248 ◽  
Author(s):  
L.J. Raffel ◽  
C.M. Vadheim ◽  
R. Klein ◽  
S.E. Moss ◽  
W.J. Riley ◽  
...  
Keyword(s):  
Gene Polymorphism ◽  
Insulin Gene ◽  
Insulin Dependent Diabetes ◽  
Hla Dr ◽  
Insulin Dependent ◽  
Insulin Gene Polymorphism

5' Insulin Gene Polymorphism Confers Risk to IDDM Independently of HLA Class II Susceptibility

Diabetes ◽  
1993 ◽  
Vol 42 (6) ◽  
pp. 851-854 ◽  
Author(s):  
B. J. Van Der Auwera ◽  
H. Heimberg ◽  
A. F. Schrevens ◽  
C. v. Waeyenberge ◽  
J. Flament ◽  
...  
Keyword(s):  
Gene Polymorphism ◽  
Class Ii ◽  
Hla Class Ii ◽  
Insulin Gene ◽  
Insulin Gene Polymorphism
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