In this paper, we provide an overview of statistical models for haplotype-based association studies, and summarize their features based on the design matrix. We classify the design matrix into the two types: direct and indirect. For these two kinds of matrices, we present and compare characteristics using a simple hypothetical example, and a real data set. The motivation behind this study was to provide practitioners with an improved understanding, to facilitate the informed selection of the appropriate haplotype-based model and to improve the interpretability of the models.
Case-Control Studies ; Dataset ; Haplotypes ; Models, Statistical ; Motivation

BACKGROUND: The histologic characteristics of atopic dermatitis (AD) include perivascular edema and dilated tortuous vessels in the papillary dermis. A single nucleotide polymorphism (SNP) of the fms-related tyrosine kinase 4 (FLT4) gene is associated with AD. OBJECTIVE: To investigate the associations between podoplanin (PDPN) gene SNPs and AD. METHODS: We genotyped 9 SNPs from 5 genes of 1,119 subjects (646 AD patients and 473 controls). We determined the promoter activity of 1 SNP (rs355022) by luciferase assay; this SNP was further investigated using 1,133 independent samples (441 AD patients and 692 controls). RESULTS: The rs355022 and rs425187 SNPs and the C-A haplotype in the PDPN gene were significantly associated with intrinsic AD in the initial experiment. The rs355022 SNP significantly affected promoter activity in the luciferase assay. However, these results were not replicated in the replication study. CONCLUSION: Two SNPs and the C-A haplotype in the PDPN gene are significantly associated with intrinsic AD; although, the results were confirmed by luciferase assay, they could not be replicated with independent samples. Nevertheless, further replication experiments should be performed in future studies.
Dermatitis, Atopic* ; Dermis ; Edema ; Haplotypes ; Humans ; Luciferases ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide ; Protein-Tyrosine Kinases

Sertoli-Leydig cell tumors are rare sex cord-stromal tumors. These tumors account for less than 0.5% of all ovarian tumors. Because these tumors appear predominantly in young women (between the age of 30 and 40) and are bilateral in less than 1% of cases, conservative removal of the tumor and adjacent fallopian tube is justifiable. Recently, we experienced a case of successful laparoscopic surgical staging in patient of Sertoli-Leydig cell tumor which was previously incompletely evaluated in local OBGY clinic. There are no solid data to suggest that usefulness and risk of laparoscopic surgical staging and adjuvant therapy with stage I disease of these tumors until now. So we present it with a brief review of literature.
Fallopian Tubes ; Female ; Humans ; Sertoli-Leydig Cell Tumor* ; Sex Cord-Gonadal Stromal Tumors

OBJECTIVES: After Women's Health Initiative (WHI) study had been published, the use of hormone therapy (HT) have been decreasing even though it is the most effective therapy for menopausal symptom. The survey was conducted to investigate Korean menopausal women's perception of HT and behavior when they are treated by HT. METHODS: During 4 weeks from September 2009 to October 2009, total 600 women aged 45~64 participated in the survey by face to face interview. Out of answering women, women who have visited clinic/hospital at least 1 time to treat their menopausal symptom during last 1 year were included. One hundred fifty women for each age group, 45~49, 50~54, 55~59 and 60~64, were recruited in consecutive order. RESULTS: Eighty percent women who have visited clinic/hospital to treat menopausal symptom, visited obstetrics and gynecology. Only 16% of these women were current user, and other 84% of these women had no experience of HT (53%) or stopped therapy (31%). Among current user, only 9% of women have used HT more than 5 years. Eighty percent of current user had used HT less than 2 years. Most distressing menopausal symptom is 'hot flush' regardless HT experience. When doctor recommend HT, 72% of patients accept HT in overall. Among women who had no experience of HT, the most common reason of not to take HT was concern of side effects (51%). And 67% of women who had concern of side effects worried about cancer incidence. CONCLUSION: Many women with menopausal symptom do not take HT even though it is the most effective therapy. Most of women who take HT stop treatment within 1 year. Most common reason of not to take HT is concern about side effect, increasing incidence of cancer related to HT. Therefore, HT should be considered to short-term relief of menopausal symptoms and at the minimal dose, if possible.
Aged ; Female ; Gynecology ; Humans ; Incidence ; Menopause ; Obstetrics ; Women's Health

OBJECTIVES: To assess the effects of hormone replacement therapy on bone mineral density (BMD), biochemical markers of bone turnover, and lipid profiles in postmenopausal women. METHODS: We retrospectively reviewed the medical records of 199 postmenopausal women who had received care at the Department of Obstetrics and Gynecology of Catholic University Seoul St. Mary's Hospital between January 1994 and December 2008. The patients were divided into the following three groups: group 1 received combined estrogen and progesterone therapy (n = 91); group 2 received estrogen only (n = 65); and group 3 received tibolone (n = 43). We compared the changes in biochemical markers of bone turnover, lipid profiles, and BMD during therapy. RESULTS: The BMD of the lumbar spine increased in groups 1 and 3 by 2.0% and 1.2%, respectively, and the BMD of the total femur increased in groups 1 and 2 by 2.3% and 0.5% from the initial values after 3 years, respectively. However, the BMD of the femoral neck and total femur decreased significantly in group 3 by 4.8% and 1.9%, respectively, 3 years after treatment initiation (P < 0.05). Serum osteocalcin and urinary deoxypyridinoline decreased in all groups 1 year after treatment. In groups 1 and 3, the total cholesterol level decreased and the triglycerides level increased. However, there were no definite changes in the total cholesterol and triglycerides levels in group 2. The high density lipoprotein cholesterol (HDL)-cholesterol level increased in groups 1 and 2, but decreased in group 3. As a result, the BMD of the lumbar spine increased and the total cholesterol level decreased in the combined therapy and tibolone groups. Tibolone had no beneficial effect on the BMD of the femoral neck. CONCLUSION: Our results suggest that each therapy has different effects on BMD, biochemical markers of bone metabolism, and lipid profiles. A prospective study involving a larger group, and considering multiple factors, will be required to obtain more clinically meaningful conclusions.
Amino Acids ; Biomarkers ; Bone Density ; Cholesterol ; Cholesterol, HDL ; Estrogens ; Female ; Femur ; Femur Neck ; Gynecology ; Hormone Replacement Therapy ; Humans ; Lipoproteins ; Medical Records ; Norpregnenes ; Obstetrics ; Osteocalcin ; Progesterone ; Retrospective Studies ; Spine ; Triglycerides

OBJECTIVES: To assess the effects of hormone replacement therapy on bone mineral density (BMD), biochemical markers of bone turnover, and lipid profiles in postmenopausal women. METHODS: We retrospectively reviewed the medical records of 199 postmenopausal women who had received care at the Department of Obstetrics and Gynecology of Catholic University Seoul St. Mary's Hospital between January 1994 and December 2008. The patients were divided into the following three groups: group 1 received combined estrogen and progesterone therapy (n = 91); group 2 received estrogen only (n = 65); and group 3 received tibolone (n = 43). We compared the changes in biochemical markers of bone turnover, lipid profiles, and BMD during therapy. RESULTS: The BMD of the lumbar spine increased in groups 1 and 3 by 2.0% and 1.2%, respectively, and the BMD of the total femur increased in groups 1 and 2 by 2.3% and 0.5% from the initial values after 3 years, respectively. However, the BMD of the femoral neck and total femur decreased significantly in group 3 by 4.8% and 1.9%, respectively, 3 years after treatment initiation (P < 0.05). Serum osteocalcin and urinary deoxypyridinoline decreased in all groups 1 year after treatment. In groups 1 and 3, the total cholesterol level decreased and the triglycerides level increased. However, there were no definite changes in the total cholesterol and triglycerides levels in group 2. The high density lipoprotein cholesterol (HDL)-cholesterol level increased in groups 1 and 2, but decreased in group 3. As a result, the BMD of the lumbar spine increased and the total cholesterol level decreased in the combined therapy and tibolone groups. Tibolone had no beneficial effect on the BMD of the femoral neck. CONCLUSION: Our results suggest that each therapy has different effects on BMD, biochemical markers of bone metabolism, and lipid profiles. A prospective study involving a larger group, and considering multiple factors, will be required to obtain more clinically meaningful conclusions.
Amino Acids ; Biomarkers ; Bone Density ; Cholesterol ; Cholesterol, HDL ; Estrogens ; Female ; Femur ; Femur Neck ; Gynecology ; Hormone Replacement Therapy ; Humans ; Lipoproteins ; Medical Records ; Norpregnenes ; Obstetrics ; Osteocalcin ; Progesterone ; Retrospective Studies ; Spine ; Triglycerides