Genome-wide association studies and epistasis analyses of candidate genes related to age at menarche and age at natural menopause in a Korean population

Pyun, Jung A; Kim, Sunshin; Cho, Nam H.; Koh, Insong; Lee, Jong‐Young; Shin, Chol; Kwack, KyuBum

doi:10.1097/gme.0b013e3182a433f7

Cited by 37 publications

(23 citation statements)

References 57 publications

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“…Recent genome-wide association studies (GWASs) among women of European ancestry have identified at least 106 genetic loci for AM (He et al 2009;Ong et al 2009;Perry et al 2009;Sulem et al 2009;Elks et al 2010;Perry et al 2014) and 21 loci for ANM (He et al 2009;Stolk et al 2009;Stolk et al 2012). However, only 24 AM loci and 9 ANM loci have been replicated in women of either Asian or African ancestry and no novel loci have been identified in these non-European populations (Liu et al 2009;Chen et al 2012;Shen et al 2013;Spencer et al 2013;Tanikawa et al 2013;Delahanty et al 2013;Carty et al 2013;Demerath et al 2013;Pyun et al 2014;Chen et al 2014).…”

Section: Introductionmentioning

confidence: 99%

Age at menarche and age at natural menopause in East Asian women: a genome-wide association study

Shi

Zhang

Choi

et al. 2016

AGE

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Age at menarche (AM) and age at natural menopause (ANM) are complex traits with a high heritability. Abnormal timing of menarche or menopause is associated with a reduced span of fertility and risk for several age-related diseases including breast, endometrial and ovarian cancer, cardiovascular disease, and osteoporosis. To identify novel genetic loci for AM or ANM in East Asian women and to replicate previously identified loci primarily in women of European ancestry by genome-wide association studies (GWASs), we conducted a two-stage GWAS. Stage I aimed to discover promising novel AM and ANM loci using GWAS data of 8073 women from Shanghai, China. The Stage II replication study used the data from another Chinese GWAS (n = 1230 for AM and n = 1458 for ANM), a Korean GWAS (n = 4215 for AM and n = 1739 for ANM), and de novo genotyping of 2877 additional Chinese women. Previous GWAS-identified loci for AM and ANM were also AGE (2016) ) and rs1023935 at 4p15.1 (beta = −0.145 years, P = 4.9 × 10 −6) and one menopausal age locus tagged by rs3818134 at 22q12.2 (beta = −0.276 years, P = 8.8 × 10 −6). These suggestive loci warrant a further validation in independent populations. Although limited by low statistical power, we replicated 19 of the 98 menarche loci and 5 of the 20 menopause loci previously identified in women of European ancestry in East Asian women, suggesting a shared genetic architecture for these two traits across populations.

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Section: Introductionmentioning

confidence: 99%

Age at menarche and age at natural menopause in East Asian women: a genome-wide association study

Shi

Zhang

Choi

et al. 2016

AGE

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“…ADAMTS9 is one of these genes. The relationship between the ADAMTS9 and SMAD3 genes is associated with natural menopause age (40). Bone mineral densitometry (BMD), an examination method to determine osteoporosis, is influenced by several genetic and environmental factors.…”

Section: Menopause and Adamtsmentioning

confidence: 99%

A new biological marker candidate in female reproductive system diseases: Matrix metalloproteinase with thrombospondin motifs (ADAMTS)

Demircan

Cömertoğlu

Akyol

et al. 2014

J Turkish German Gynecol Assoc

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Review 250Introduction A Disintegrin-like and Metalloproteinase with Thrombospondin type-1 motif (ADAMTS) proteinases, which are released outside the cell (soluble), have very critical roles in damage and repair of extracellular matrix (ECM) processes (remodeling) (1). The ADAMTS family, which degrades ECM structural substrates, such as collagen, aggrecan and versican, has 19 family members (2). These enzymes, which are associated with a great deal of vital physiological processes in the ECM, are inhibited by tissue inhibitors of metalloproteinases (TIMPs) (3, 4). Family members of this group are divided into various subgroups according to their tasks in the ECM (Figure 1). ADAMTS1 (METH-1), which was identified for the first time in colon adenocarcinoma, is associated with inflammation (5) and shows anti-angiogenic properties with ADAMTS8 (METH-2) (6, 7). Especially in the physiology of ovulation, there is interest in these proteases. ADAMTS1 also takes important roles in the process of normal growth, fertility, and organogenesis (8). ADAMTS 2, 3, and 14, also known pro-collagen N-proteinases, have important roles in collagen synthesis in the ECM. Various connective tissue diseases are seen in ADAMTS2 deficiency in this group (9). ADAMTS1, -4, -5, -8, -9, -15, -16, and -18 degrade aggrecan, which is the one of the main components of the ECM; so, they are called as aggrecanases (1). ADAMTS1, -4, and -5 degrade brevican and versican, other structural ECM components (10). Versican helps hyaluronan, which is the basic element of the ECM, to stabilize the matrix (11). ADAMTS5 and -6, expressed specifically in the placenta, are thought to be responsible for implantation (12). ADAMTS7 and -12 degrade Cartilage oligomeric matrix protein (COMP), which is an essential glycoprotein in cartilage matrix (13). ADAMTS10 has important roles in the development of tissues of skin and lens. In ADAMTS10 mutations, autosomal recessive Weill-Marchesani syndrome is seen (14). Known as von Willebrand cleaving protease, ADAMTS13 has effects on coagulation and homeostasis. This protease degrades ultralarge VWF multimers that are localized in endothelial surfaces; so, it prevents thrombus formation (9). Thrombotic thrombocytopenic purpura (TTP), a serious problem during pregnancy, occurs in ADAMTS13 deficiency (15). Increased by follicle-stimulating hormone (FSH) and luteinizing hormone (LH), ADAMTS16 degrades a-2 macroglobulin in the ECM (16). ADAMTS17 is involved in estrogen-induced apoptosis in cancer cells (16). ADAMTS9 and -20 are known Playing a key role in the pathophysiology of many diseases, A Disintegrin-like and Metalloproteinase with Thrombospondin type-1 motif (AD-AMTS) proteinases have been attracted more attention in obstetrics and gynecology. First discovered in 1997, this zinc-dependent proteinase family has 19 members today. These enzymes, which are located in the extracellular matrix (ECM), have a lot of very important functions, like matrix formation and resorption, angiogenesis, ovulation, and coagulation. In additio...

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“…Values with the same letters indicate that no significant differences were found between the groups. AST, aspartate aminotransferase; ALT, alanine aminotransferase; DBP, diastolic blood pressure; EMA, early menarche age; FBG, fasting blood glucose; Hb1Ac, glycated hemoglobin 1ac; HDL-C, high-density lipoprotein cholesterol; HOMA-IR, homeostatic model assessment for insulin resistance; LDL-C, low-density lipoprotein cholesterol; LMA, late menarche age; NMA, normal menarche age; SBP, systolic blood pressure; TC, total cholesterol; TG, triglycerides [34], which contributes to the development of diabetes [35]. During the preparation of this manuscript, two studies have just reported in Korea which found inverse association between early age at menarche and diabetes.…”

Section: Odds Ratios (Ors) For Diabetes By Age At Menarchementioning

confidence: 99%

Association between age at menarche and diabetes in Korean post-menopausal women: results from the Korea National Health and Nutrition Examination Survey (2007-2009)

et al. 2015

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POST-MENOPAUSAL women are highly exposed to multiple health problems and risk of diabetes is higher in postmenopausal women than in their pre-menopausal counterparts [1]. Diabetes decrease healthrelated quality of life because of diabetic complications, and increase burden of disease [2]. Considering the fact that diabetes-caused death rate per 100,000 is 37.5 in women aged 50-69 years and 186.9 in women aged 70-80 years, whereas 2.7 in women aged 15-49 years, prevention and treatment for diabetes are an important health issue for post-menopausal women [3].Age at menarche is defined as the age at the onset of menstruation in adolescents and is frequently used Abstract. Early menarche is known to be associated with diabetes, however this association remains controversial. Our study aimed to investigate the possible association between age at menarche and diabetes prevalence in post-menopausal Korean women. This study included 3,254 post-menopausal Korean women aged 50-85 years from the Korea National Health and Nutrition Examination Survey IV (KNHANES 2007(KNHANES -2009). Logistic regression analyses were used to estimate odds ratios (ORs) for diabetes prevalence. Levels of biochemical markers were compared according to groups by age at menarche. Women in the earlier menarche age group (10-12 years) showed higher levels of fasting blood glucose (FBG) and scores of homeostatic model assessment in the insulin resistance (HOMA-IR) index than other groups (p <0.05). After adjusting for potential confounding factors, early age at menarche was significantly associated with a higher prevalence of diabetes (OR 1.86, 95% confidence intervals [CI] 1.07-3.23). The observed association remained significant despite additional adjustment for body mass index and waist circumference (OR 1.82, 95% CI 1.03-3.23) and despite further adjustments for FBG levels and HOMA-IR index (OR 2.25, 95% CI 1.11-4.55). Our findings strengthen the hypothesis that younger age at menarche is associated with increased diabetes prevalence in the Korean population.

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Genome-wide association studies and epistasis analyses of candidate genes related to age at menarche and age at natural menopause in a Korean population

Abstract: Novel SNPs and synergistic interactions between candidate genes are significantly associated with age at menarche and age at natural menopause in a Korean population.

Cited by 37 publications

References 57 publications

Age at menarche and age at natural menopause in East Asian women: a genome-wide association study

Age at menarche and age at natural menopause in East Asian women: a genome-wide association study

A new biological marker candidate in female reproductive system diseases: Matrix metalloproteinase with thrombospondin motifs (ADAMTS)

Association between age at menarche and diabetes in Korean post-menopausal women: results from the Korea National Health and Nutrition Examination Survey (2007-2009)

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